Consensus on hemophilia in Mexico.

Hemophilia is a hemorrhagic disorder with a sex-linked inherited pattern, characterized by an inability to amplify coagulation due to a deficiency in coagulation factor VIII (hemophilia A or classic) or factor IX (hemophilia B). Sequencing of the genes involved in hemophilia has provided a description and record of the main mutations, as well as a correlation with the various degrees of severity. Hemorrhagic manifestations are related to levels of circulating factor, mainly affecting the musculoskeletal system and specifically the large joints (knees, ankles, and elbows). This document is a review and consensus of the main genetic aspects of hemophilia, from the inheritance pattern to the concept of women carriers, physiopathology and classification of the disorder, the basic and confirmation studies when hemophilia is suspected, the various treatment regimens based on infusion of the deficient coagulation factor as well as innovative factor-free therapies and recommendations for the management of complications associated with treatment (development of inhibitors and/or transfusion-transmitted infections), or secondary to articular hemorrhagic events (hemophilic arthropathy). Finally, relevant reviews of clinical and treatment aspects of hemorrhagic pathology characterized by acquired deficiency of FVIII secondary to neutralized antibodies named acquired hemophilia.

La hemofilia es un trastorno hemorrágico con patrón de herencia ligado al sexo, caracterizado por una incapacidad en la amplificación de la coagulación ocasionada por la deficiencia del factor VIII (hemofilia A o clásica) o del factor IX (hemofilia B). La secuenciación de los genes involucrados en la hemofilia ha permitido la descripción y registro de las principales mutaciones, así como la correlación con los diversos grados de severidad. Las manifestaciones hemorrágicas se relacionan con los niveles de factor deficiente circulante, afectando principalmente al sistema musculoesquelético y en particular a las grandes articulaciones (rodillas, tobillos y codos). El presente documento hace una revisión y consenso de los principales aspectos genéticos de la hemofilia, desde el patrón de herencia y el concepto de mujeres portadoras, la fisiopatología y clasificación de la enfermedad, los estudios básicos y de confirmación ante la sospecha de hemofilia, y de los diversos esquemas de tratamiento basados en la infusión del factor de coagulación deficiente hasta las terapias innovadoras libres de factor, así como de las recomendaciones para el manejo de las complicaciones asociadas al tratamiento (desarrollo de inhibidores y/o infecciones transmitidas por transfusión) o secundarias a los eventos hemorrágicos a nivel articular (artropatía hemofílica). La parte final del documento revisa los aspectos clínicos y de tratamiento relevantes de una patología hemorragica caracterizada por la deficiencia adquirida del FVIII mediada por anticuerpos neutralizantes denominada hemofilia adquirida.

[Efficacy and safety of prophylaxis with emicizumab in hemophilia A: A study of 13 patients]. / Eficacia y seguridad de la profilaxis con emicizumab en la hemofilia A: estudio de 13 pacientes.

INTRODUCTION: Emicizumab is the first non-replacement therapy for prophylaxis in severe hemophilia A. AIMS: The principal aim of this study is to describe the results of our patients in prophylaxis with emicizumab, according to the usual clinical practice. MATERIAL AND METHODS: Follow-up of 13 patients from the start of prophylaxis, recording of bleeding, surgeries, adverse reactions and the need or not for factor therapy. Plasma levels were measured at follow-up visits, the technique was coagulative in one stage, modified by 1:20 dilution. RESULTS: Median plasma levels were 52.2mg [30.7-71.9]. Prophylaxis was safe and effective; only one spontaneous haemorrhage was recorded over time and no treatment was required. There were no thromboembolic events or serious hypersensitivity, anaphylaxis or anaphylactoid reactions. The incidence of injection site reactions was 8%. Perioperative management in minor interventions was carried out without adjuvant factorial therapy, in 2 major surgeries a dose of plasmatic FVIII concentrate was required in the patient with hemophilia A without inhibitor and FVII in the patient with inhibitor, and it was sufficient to stop the bleeding. CONCLUSION: This study demonstrated emicizumab pharmacokinetics and its half life ensure optimal levels with prophylaxis treatment at doses established in the technical data sheet.

Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia. / Consenso de recomendaciones para la mejora de la coordinación asistencial inter e intra-centros en el abordaje de la hemofilia.

OBJECTIVE: Define consensus recommendations to improve care coordination between Hospital Pharmacy, Haematology and Nursing, inter- and intra-center, in the care of haemophilia patients. METHOD: Recommendations for the improvement of care coordination in the management of haemophilia patients were identified and assessed by a multidisciplinary panel of professionals with experience in this field (Hospital Pharmacy, Haematology and Nursing) and supported by scientific evidence. The identified recommendations were assessed by Rand/UCLA consensus methodology (Delphi-adapted) based on their appropriateness and, subsequently, on their necessity. In both cases, it was used ordinal Likert scale. Data were statistically analysed through different metrics. RESULTS: Fifty-three recommendations for the improvement of care coordination between Hospital Pharmacy, Haematology and Nursing in the management of haemophilia patients were identified, grouped into eight areas of action: i) Haemophilia units, reference centers and multidisciplinary care; ii) Role of Haematology, Hospital Pharmacy and Nursing in the patient journey of haemophilia patients; iii) Telepharmacy and telemedicine; iv) Pharmacokinetic monitoring; v) Transition to adult patient regimen; vi) Patient health education; vii) Surgery, emergency room and hospital admission; and viii) Outcome evaluation. All recommendations were assessed as appropriate and necessary by the external expert panel. CONCLUSIONS: Haemophilia patient journey is complex and depends on different variables. It also requires the involvement of different healthcare professionals who must act in a coordinated and integrated manner at all stages of the patient's life, adapted to their individual needs. On this matter, the identified and agreed recommendations may improve continuity and quality of care, as they facilitate the integration and coordination of the professionals involved in the management of this pathology, especially Hospital Pharmacy, Haematology and Nursing.

[Translated article] Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia.

OBJECTIVE: Define consensus recommendations to improve care coordination between Hospital Pharmacy, Hematology and Nursing, inter- and intra-center, in the care of hemophilia patients. METHOD: Recommendations for the improvement of care coordination in the management of hemophilia patients were identified and assessed by a multidisciplinary panel of professionals with experience in this field (Hospital Pharmacy, Hematology and Nursing) and supported by scientific evidence. The identified recommendations were assessed by Rand/UCLA consensus methodology (Delphi-adapted) based on their appropriateness and, subsequently, on their necessity. In both cases, it was used ordinal Likert scale. Data were statistically analyzed through different metrics. RESULTS: Fifty-three recommendations for the improvement of care coordination between Hospital Pharmacy, Hematology and Nursing in the management of hemophilia patients were identified, grouped into eight areas of action: i) Hemophilia units, reference centers and multidisciplinary care; ii) Role of Hematology, Hospital Pharmacy and Nursing in the patient journey of hemophilia patients; iii) Telepharmacy and telemedicine; iv) Pharmacokinetic monitoring; v) Transition to adult patient regimen; vi) Patient health education; vii) Surgery, emergency room and hospital admission; and viii) Outcome evaluation. All recommendations were assessed as appropriate and necessary by the external expert panel. CONCLUSIONS: Hemophilia patient journey is complex and depends on different variables. It also requires the involvement of different healthcare professionals who must act in a coordinated and integrated manner at all stages of the patient's life, adapted to their individual needs. On this matter, the identified and agreed recommendations may improve continuity and quality of care, as they facilitate the integration and coordination of the professionals involved in the management of this pathology, especially Hospital Pharmacy, Hematology and Nursing.

Acute coronay syndrome in a patient with severe hemophilia A: Dificult decisions.

Hemophilia A is an inherited coagulation disease characterized by factor VIII (FVIII) deficiency and is associated with high hemorrhagic risk, especially in its severe forms. As the average life expectancy of patients with hemophilia has increased, so has the prevalence of acute coronary events. There is however limited experience in dealing with them. The strategy of acting on acute coronary events in patients with hemophilia, as demonstrated in the present case, is a real challenge, not only due to the need for antiplatelet therapy (which is essential in the prevention of stent thrombosis, but increases hemorrhagic risk), but also due to the lack of specific recommendations related to the most adequate and safe replacement therapy in these situations. The authors describe the case of a 48-year-old man with unstable angina and a previous diagnosis of severe hemophilia A who underwent percutaneous coronary intervention under FVIII therapy without hemorrhagic complications.

Inducción de tolerancia inmune en menores de 18 años con hemofilia A: experiencia en Uruguay, 2009-2020 / Induction of immune tolerance in children of under 18 years of age with hemophilia A: experience in uruguay, 2009-2020 / Indução de tolerância imune em crianças menores de 18 anos com hemofilia A: experiência no uruguai, 2009-2020

Introducción: el desarrollo de inhibidores contra el factor VIII (FVIII) es la complicación más seria del tratamiento en la hemofilia A. La inducción de tolerancia inmune (ITI) permite utilizar nuevamente el concentrado de FVIII para profilaxis o tratamiento. Objetivos: describir la experiencia con la ITI en menores de 18 años con hemofilia A severa (HAS) en un prestador integral de salud pública. Material y métodos: estudio descriptivo, retrospectivo, de menores de 18 años con HAS, concentraciones de inhibidores de FVIII ≥ a 5 UB, a quienes se les realizó ITI y seguimiento completo entre 2009 y 2020. Para la ITI se utilizó concentrado de FVIII derivado plasmático. El beneficio se expresa como la tasa de éxito definido por la negativización del inhibidor. Resultados: se incluyeron seis pacientes. Edad promedio al diagnóstico de inhibidor 2,96 años, luego de 24,4 días de exposición (DDE) a concentrados de FVIII. Media de inicio de ITI 3,76 niños y el tiempo de latencia del diagnóstico de inhibidor y el inicio de la ITI fue de 10,33 meses. El pico máximo del título pre-ITI fue en promedio de 114,7 UB. Cuatro pacientes iniciaron el régimen de ITI con títulos de inhibidor menor a 10 UB. El título del inhibidor se negativizó en 8,2 meses y el porcentaje de recuperación in vivo >65% se logró con una media de 15,7 meses. La ITI fue exitosa en 83% de los casos. Conclusiones: en niños con hemofilia A e inhibidores de alto título, la ITI tiene un elevado éxito, tal como ocurrió en esta serie. Dado que el tiempo de respuesta es variable, la ITI debe ser individualizada.

Introduction: the development of inhibitors against factor VIII is the most serious complication of treatment in hemophilia A. Immune tolerance induction (ITI) enables the factor VIII concentrate to be used again for prophylaxis or treatment. Objectives: describe the experience with ITI in children of under 18 years of age with severe hemophilia A (SAH) in a health care provider. Material and methods: descriptive, retrospective study of children under 18 years of age with SAH, concentrations of FVIII inhibitors ≥ 5BU, who underwent ITI and full follow-up between 2009-2020. For ITI, we used plasma derived FVIII concentrate. The benefit is expressed as the success rate defined by the inhibitor's negativization. Results: 6 patients were included. Mean age at diagnosis of inhibitor 2,96 years, after 24,4 days of exposure (DAE) to FVIII concentrates. Mean ITI onset was 3,76 years and latency time from inhibitor diagnosis and ITI onset was 10,33 months. Maximum peak of the pre ITI title was an average of 114,7 UB. Four patients started the ITI regimen with inhibitors titers less than 10 BU. The inhibitor titer negative in 8,2 months and in vivo recovery rate >65% was achieved with a mean of 15,7 months. The ITI was successful in 83% of the cases. Conclusions: ITI is highly successful in children with hemophilia A and high-titer inhibitors, as this case suggests. Since the response time is variable, the ITI must be individualized.

Introdução: o desenvolvimento de inibidores contra o fator VIII é a complicação mais grave do tratamento da hemofilia A. A indução de tolerância imunológica (ITI) permite que o concentrado de fator VIII seja novamente utilizado para profilaxia ou tratamento. Objetivos: descrever a experiência com ITI em crianças menores de 18 anos com hemofilia A grave (HAS) em um serviço de saúde pública abrangente. Material e métodos: estudo descritivo e retrospectivo de crianças menores de 18 anos com HAS, concentrações de inibidor do FVIII ≥ 5 BU), que realizaram ITI e acompanhamento completo entre 2009-2020. Concentrado de FVIII derivado de plasma foi utilizado para ITI. O benefício é expresso como a taxa de sucesso definida pela negativação do inibidor. Resultados: 6 pacientes foram incluídos. Idade média no diagnóstico do inibidor 2,96 anos, após 24,4 dias de exposição (DDE) a concentrados de FVIII. A média de início da ITI foi de 3,76 crianças e o tempo de latência do diagnóstico do inibidor e início da ITI foi de 10,33 meses. O pico máximo do título pré-ITI foi em média 114,7 BU. Quatro pacientes iniciaram o regime ITI com títulos de inibidor inferiores a 10 BU. O título do inibidor tornou-se negativo em 8,2 meses e a percentagem de recuperação in vivo >65% foi alcançada com uma média de 15,7 meses. O ITI foi bem-sucedido em 83% dos casos. Conclusões: em crianças com hemofilia A e inibidores de títulos elevados, a ITI é altamente bem sucedida, como ocorreu nesta série. Como o tempo de resposta é variável, o ITI deve ser individualizado.

Artritis séptica de rodilla por Serratia marcescens en paciente con hemofilia A

Presentamos el caso de un paciente varón de 24 años con hemofilia A de 14 años de evolución. El paciente presentó hemartrosis recurrente en rodilla derecha, luego desarrolló artritis séptica en dicha articulación producida por Serratia marcescens con respuesta satisfactoria al lavado intra-articular con solución salina y 28 días de tratamiento con carbapenémicos. En pacientes con artritis séptica, hemartrosis previa y múltiples ingresos hospitalarios debe sospecharse la presencia de este germen. El tratamiento es quirúrgico y con antibióticos de amplio espectro.

We present the case of a 24-year-old male patient with hemophilia A of 14 years of evolution. The patient presented recurrent hemarthrosis in the right knee, who developed septic arthritis in knee due to Serratia marcescens with a satisfactory response to intra-articular lavage with saline solution and 28 days of treatment whith carbapenems. In patients with septic arthritis, previous hemarthrosis and multiple hospital admissions, the presence of this germ should be suspected. The treatment is surgical and with broad spectrum antibiotics.

Hemofilia adquirida tipo A

La hemofilia adquirida es un trastorno hemostático causado por la presencia de autoanticuerpos inhibidores contra el F VIII de la coagulación. Clínicamente se presenta como sangrado espontáneo, principalmente en piel y tejidos blandos, y a diferencia de la hemofilia congénita, la hemartrosis es rara. Se presenta el caso de un paciente de sexo masculino, de 60 años, previamente sano, que acude a consulta por cuadro de 8 días de evolución de aparición de hematomas a nivel de miembro superior e inferior. Durante su evolución presenta TTPA alargado y concentraciones bajas de F VIII.

Acquired hemophilia is a hemostatic disorder caused by the presence of inhibitory autoantibodies against coagulation F VIII. Clinically it presents as spontaneous bleeding, mainly in the skin and soft tissues, and unlike congenital hemophilia, hemarthrosis is rare. We present the case of a 60-year-old male patient, previously healthy, who came to the clinic due to an 8-day history of hematomas on the upper and lower limbs. During its evolution it presents prolonged APTT and low concentrations of F VIII.

Hemofilia A adquirida en el posparto: reporte de caso / Postpartum-acquired hemophilia A: case report

RESUMEN La hemofilia A adquirida es un trastorno hemorrágico poco frecuente a nivel mundial, y se caracteriza por la presencia de autoanticuerpos inhibidores dirigidos hacia un factor de la coagulación, en la mayoría de ocasiones el factor VIII. Las etiologías son variadas, entre las que se encuentra el posparto. Se presenta el caso de una paciente de 34 años con dolor lumbar, hematuria y hematoma en región glútea derecha, sin antecedentes previos de sangrado. Por extensión de las manifestaciones hemorrágicas es transferida al servicio de emergencia. Los exámenes auxiliares de perfil de coagulación, prueba de mezclas y medición de los títulos de inhibidores del factor VIII permitieron confirmar el diagnóstico. El caso resalta la importancia de considerar esta patología en una paciente puérpera con persistencia de sangrado por herida operatoria, hematoma extenso y sin historia de sangrado previo.

ABSTRACT Acquired hemophilia A is a rare bleeding disorder worldwide, characterized by the presence of inhibitory autoantibodies directed against a coagulation factor, most often factor VIII. There are several possible causes, and it can occur during the postpartum period. We present the case of a 34-year-old female patient with back pain, hematuria and a right gluteal hematoma, with no previous history of bleeding. She was transferred to the emergency department due to the extension of the hemorrhagic manifestations. Diagnosis was confirmed with the coagulation profile, mixing test and the assessment of factor VIII inhibitor tier. The case highlights the importance of considering this condition in a postpartum patient with persistent postoperative bleeding, extensive hematoma and no history of previous bleeding.

Nuevos paradigmas en la hemofilia / New paradigms in hemophilia

Resumen La hemofilia es una diátesis hemorrágica producida por la deficiencia hereditaria de un factor (proteína) de la coagulación sanguínea que afecta principalmente a los varones. Su grado de severidad puede variar desde casos con poco sangrado, hasta condiciones muy graves que en muchas ocasiones llevan a la muerte a los enfermos. Existen dos tipos de hemofilia: la A por carencia del factor VIII y la B por falta del factor IX. En este editorial se resume de manera global la situación actual de los avances de la hemofilia desde el punto de vista clínico y del laboratorio.

Abstract Hemophilia is a hemorrhagic diathesis that is caused by the hereditary deficiency of a factor (protein) of blood clotting and that affects mainly men. Its degree of severity can vary from cases with little bleeding, to very serious conditions that often lead to death. There are two types of hemophilia, A for lack of factor VIII, and B for lack of factor IX. This editorial summarizes the current state of progress of hemophilia from the clinical and laboratory point of view.

Escores de Risco Cardiovascular entre Adultos Assintomáticos com Hemofilia / Cardiovascular Risk Scores among Asymptomatic Adults with Haemophilia

Resumo Fundamento A taxa de mortalidade de pessoas com hemofilia (PCH) no Brasil está diminuindo, mas a incidência relativa de mortes associadas a doenças cardiovasculares (DCV) tem aumentado. Objetivos Nosso objetivo foi descrever o escore de risco de DCV de PCHs de acordo com a ferramenta Pooled Cohort Equations Risk (PCER) Calculator e suas recomendações de tratamento. Além disso, foram comparadas as estimativas da PCER com o respectivo escore de risco de Framingham (FRS). Métodos Este estudo transversal incluiu PCHs do sexo masculino, com idade igual ou superior a 40 anos, tratados no Centro de Tratamento Integral de Hemofilia de Pernambuco (Recife/Brasil). PCHs com um evento cardiovascular prévio ou colesterol lipídico de baixa densidade ≥ 5,0 mmol/L foram excluídas. Entrevistas, revisões de prontuários médicos e exames de sangue foram realizados. A ferramenta PCER foi utilizada para estimar o risco de DCV e compará-lo com o respectivo FRS. Um valor de p < 0,05 foi aceito como estatisticamente significativo. Resultados Trinta PCHs foram incluídas. A idade mediana foi de 51,5 [intervalo interquartil-IIQ; 46,0-59,5] anos. A prevalência de obesidade, hipertensão arterial sistêmica, diabetes mellitus, hipertrigliceridemia, hipercolesterolemia e hipoHDLemia foi de 20%, 67%, 24%, 14%, 47% e 23%, respectivamente. O escore mediano da PCER foi de 6,9% [IIQ; 3,1-13,2], com 50% de alto risco (PCER ≥ 7,5%). O uso de estatina foi sugerido para 54% das PCHs. A pressão arterial estava mal controlada em 47% das PCHs. A concordância entre PCER e FRS foi de 80% (κ = 0,60; p = 0,001). Conclusões Metade dos homens com hemofilia, com 40 anos de idade ou mais, teve um alto risco de desenvolver DCV em 10 anos, com fortes recomendações para melhorar o controle da dislipidemia e da pressão arterial.

Abstract Background The mortality rate of Brazilian people with haemophilia (PwH) is decreasing, but the relative incidence of deaths associated with cardiovascular disease (CVD) is increasing. Objectives We aimed to describe the CVD risk score of PwH according to Pooled Cohort Equations Risk (PCER) Calculator tool and its treatment recommendations. We also compared the PCER estimates with the respective Framingham Risk Score (FRS). Methods This cross-sectional study included male PwH ≥ 40 years treated at the Comprehensive Haemophilia Treatment Centre of Pernambuco (Recife/Brazil). PwH with a previous CVD event or a low-density lipid cholesterol ≥ 5.0 mmol/L were excluded. Interviews, medical file reviews, and blood tests were performed. The PCER tool was used to estimate the CVD risk and compare it with the respective FRS. A p-value < 0.05 was accepted as statistically significant. Results Thirty PwH were included. Median age was 51.5 [interquartile range-IQR; 46.0-59.5] years. The prevalence of obesity, systemic arterial hypertension, diabetes mellitus, hypertriglyceridaemia, hypercholesterolaemia, and hypoHDLaemia were 20%, 67%, 24%, 14%, 47%, and 23%, respectively. The median PCER score was 6.9% [IQR; 3.1-13.2], with 50% having a high risk (PCER ≥ 7.5%). Statin use was suggested for 54% of PwH. Blood pressure was poorly controlled in 47% of PwH. The agreement between PCER and FRS was 80% (κ = 0.60; p = 0.001). Conclusions Half of the male people with haemophilia aged 40 years or older had a 10-year high risk of developing CVD with strong recommendations to improve control of dyslipidaemia and blood pressure.

Influência do tratamento fisioterapêutico na independência funcional de pessoas com hemofilia submetidas à sinovectomia radioativa / Influence of physiotherapeutic treatment on the functional independence of people with hemophilia submitted to radioactive sinovectomy

A sinovectomia radioativa (SR) é considerada o tratamento de eleição no controle da sinovite crônica não responsiva ao tratamento conservador, sendo recomendado tratamento fisioterapêutico para a melhora da funcionalidade. Objetivo: Verificar a influência do tratamento fisioterapêutico na independência funcional e saúde articular de hemofílicos após tratamento com SR. Método: Trata-se de um estudo descritivo, retrospectivo, analítico e metodologia quali-quantitativa. Realizou-se avaliação fisioterapêutica, aplicação do HJHS para avaliação da saúde articular e Escore FISH para avaliação da independência funcional. Os participantes foram subdivididos em dois grupos de acordo com a realização ou não da fisioterapia após a SR. Resultados: Participaram do estudo 8 pessoas com hemofilia A, sexo masculino, média de idade de 19±5,3 anos. Foram 12 articulações submetidas a SR, dessas 41,67% cotovelos, 33,33% joelhos e 25% tornozelos. Na comparação dos grupos, não houve diferença estatística entre os eles nas variáveis: saúde articular e a Independência Funcional. Conclusão: O estudo é uma primeira tentativa de descrever o impacto da fisioterapia na independência funcional e saúde articular de hemofílicos submetidos à SR. Embora possua limitações, foi possível observar que o grupo que não realizou fisioterapia apresentava melhor saúde articular e melhor independência funcional previamente à SR em comparação ao grupo que realizou fisioterapia; porém, o grupo fisioterapia apresentava pior quadro global, com a funcionalidade impactada por outras articulações e não somente aquela tratada com SR, apresentando maior número de articulações alvo.

Radioactive synovectomy (RS) is considered the treatment of choice in the control of chronic synovitis resistant to conservative treatment, and physiotherapy is recommended to improve functionality after procedure. Objective: The aim was to verify the effects of physiotherapy on functional independence and joint health after RS. Method: This is a descriptive, retrospective, analytical study with qualitative/quantitative methodology. Physiotherapeutic evaluation, Hemophilia Joint Health Score (HJHS) application for joint outcome assessment and Functional Independence Score in Hemophilia (FISH) were used to measure the patient's functional ability. The participants were divided into two groups: one group underwent a physiotherapy program and one not treated with physiotherapy after RS. Results: The study included 8 people with hemophilia A, all male, their mean age was 19±5.3 years. Twelve joints were submitted to RS, in which 41.67% elbows, 33.33% knees and 25% ankles. In the comparison of the groups, there was no statistically significant difference between them in joint health and functional independence. Conclusion: The study is a first attempt to describe the impact of physiotherapy on functional independence and joint health of hemophilic patients submitted to SR. Although this study has limitations, it was possible to observe that the group not treated with physiotherapy had better joint health and better functional independence prior to SR compared to the group that underwent physiotherapy, but the group treated with physiotherapy had worse overall health and have their functionality impacted by joints other than those treated with RS, presenting a higher number of target joints.

Equidade em situações-limite: acesso ao tratamento para pessoas com hemofilia / Equity in limit situations: access to treatment for people with hemophilia / Equidad en situaciones límite: acceso al tratamiento para personas con hemofilia

Resumo Hemofilia é uma condição hematológica rara e seu tratamento é alvo de inovação terapêutica. No encontro entre necessidades do paciente, condutas do clínico e orientação do gestor de saúde, surge o conflito: o protocolo é um mínimo ou um máximo terapêutico? As decisões clínicas em debate com a alocação de recursos levam à discussão sobre equidade nessas situações-limite. O método do presente estudo é compreensivo, mediante análise bioética de 14 decisões judiciais acerca do acesso ao tratamento de hemofilia. As decisões de garantia de acesso aos tratamentos pressupõem vinculação ética com o paciente; a clínica conserva uma dimensão de equidade ao permitir que o tratamento seja singular e as doses previstas em protocolo sejam sugestões e não limites. Do ponto de vista ético, estas são expressões de justiça, de precaução e de consideração dos interesses do paciente.

Abstract Hemophilia is a rare hematological condition and its treatment is the target of therapeutic innovation. In the meeting between patient needs, clinician conducts and guidance from the health manager, a conflict arises: is the protocol a therapeutic minimum or maximum? Clinical decisions under discussion with the allocation of resources lead to the discussion about equity in such limit situations. The method of the present study is a comprehensive bioethical analysis of 14 legal decisions about the access to hemophilia treatment. Decisions to guarantee access to treatments presuppose ethical link with the patient; the clinic retains a dimension of equity by allowing the treatment to be unique and the doses provided for in the protocol are suggestions and not limits. From an ethical point of view, these are expressions of justice, precaution and consideration of a patient's interests.

Resumen La hemofilia es un trastorno hematológico raro, cuyo tratamiento es objeto de innovación terapéutica. Ante las necesidades del paciente, la conducta del clínico y la orientación del gestor de salud, surge el conflicto: ¿el protocolo es un mínimo o un máximo terapéutico? Las decisiones clínicas en debate con la asignación de recursos plantean la discusión sobre la equidad en estas situaciones límite. Este estudio se basa en el método comprensivo a través de un análisis bioético de 14 decisiones judiciales sobre el acceso al tratamiento de la hemofilia. Las decisiones para garantizar el acceso a los tratamientos suponen un vínculo ético con el paciente; la clínica mantiene una dimensión de equidad al permitir que el tratamiento sea único y las dosis previstas en el protocolo sean sugerencias y no límites. Desde el punto de vista ético, estas son expresiones de justicia, de precaución y consideración de los intereses del paciente.

Caracterización clinicoepidemiológica de pacientes con hemofilia congénita de tipos A y B en Santiago de Cuba / Clinical epidemiological characterization of patients with types A and B congenital hemophilia in Santiago de Cuba

Introducción: La hemofilia es una enfermedad de origen genético, ligada al cromosoma X, que afecta la capacidad natural de la sangre para formar un coágulo, debido a la ausencia, disminución o un defectuoso funcionamiento de los factores VIII y IX, de ahí los tipos A y B, respectivamente. Objetivo: Describir las características clínicas y epidemiológicas de pacientes con hemofilia congénita de tipos A y B en Santiago de Cuba. Método: Se realizó un estudio descriptivo y transversal de los 41 pacientes con hemofilia congénita de tipos A y B (en una población pediátrica y de adultos) atendidos en la consulta de trastornos hemostáticos del Hospital General Docente Dr. Juan Bruno Zayas Alfonso de Santiago de Cuba, desde noviembre de 2017 hasta diciembre de 2018. Resultados: En la serie predominaron los adultos jóvenes con hemofilia A (56,1 %), la hemofilia moderada (58,6 %), la lesión articular ligera (36,6 %), el crioprecipitado como tratamiento más utilizado y el nivel de escolaridad secundario. Conclusiones: La hemofilia A fue la más frecuente, en adultos jóvenes residentes en el municipio de Santiago de Cuba, principalmente la de tipo moderada y con artropatía leve. No se encontraron diferencias en relación con los informes nacionales e internacionales y el estudio de las alteraciones genéticas y moleculares estuvo limitado por las condiciones tecnológicas del momento.

Introduction: The hemophilia is a disease of genetic origin, linked to chromosome X that affects the natural capacity of the blood to form a clot, due to the absence, decrease or a defective operation of the factors VIII and IX, hence the types A and B, respectively. Objective: To describe the clinical and epidemiologic characteristics of patients with types A and B congenital hemophilia in Santiago de Cuba. Method: A descriptive and cross-sectional study of the 41 patients with types A and B congenital hemophilia (in a pediatric and adults population) assisted in the hemostatic disorders service of Dr. Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba, was carried out from November, 2017 to December, 2018. Results: In the series there was a prevalence of young adults with hemophilia A (56.1 %), moderate hemophilia (58.6 %), light articular lesion (36.6 %), the cryoprecipitate as the most used treatment and the secondary school level. Conclusions: The hemophilia A was the most frequent, in young adults residents in Santiago de Cuba municipality, mainly that of moderated type and with light arthropathy. There were no differences related to the national and international reports and the study of the genetic and molecular disorders was limited by the technological conditions of the moment.

Statements about hemophilia A in Brazil: an expert Delphi panel / Consensos em hemofilia A no Brasil: painel Delphi de especialistas

Objective: Understanding unmet needs related to hemophilia A management in Brazil is critical for supporting decision-making. Methods: A modified Delphi consensus panel was conducted. Hematologists with extensive experience treating hemophilia in the Brazilian Public Health System were invited to answer questions regarding indicators of severe hemophilia prophylaxis effectiveness, emicizumab treatment indications, and bypassing agents used to reduce bleeding in patients with inhibitors, immune tolerance induction (ITI) use, and adherence. The consensus was defined as ≥75% of votes in Round 1 or using a 5-point Likert-type scale (1 = strongly disagree, 2 = disagree, 3 = neither agree nor disagree, 4 = agree, and 5 = strongly agree) in Round 2, which included questions not reaching minimum cut-off in the first step. Results: Nine expert panelists with extensive experience in the Brazilian Public Health System participated. The panel reached an agreement on recommendations about prophylaxis, bleeding treatment patterns, and bleeding sites. From patients' perspectives, venous access and infusion frequency were the most significant barriers to improving patient treatment. According to most experts, emicizumab will not replace ITI or long-term factor VIII therapy. Still, emicizumab was thought to be a good therapeutic option for patients with difficult venous access, patients requiring central venous access, in the presence of inhibitors, or patients experiencing infusion-related pain. Conclusion: The information gleaned from this study may be helpful to both decision-makers and those in charge of developing healthcare economic models for the treatment of hemophilia A in Brazil.

Objetivo: É fundamental entender as necessidades não atendidas relacionadas ao manejo da hemofilia A no Brasil. Métodos: Foi conduzido um painel Delphi modificado. Foram convidados hematologistas com vasta experiência no tratamento de hemofilia no SUS para responder a perguntas sobre indicadores de eficácia da profilaxia, indicações de tratamento com emicizumabe, uso de agentes de bypass, uso de indução de tolerância imunológica (ITI) e adesão. O consenso foi definido como ≥75% dos votos na rodada 1 ou usando uma escala do tipo Likert de 5 pontos (1 = discordo totalmente, 2 = discordo, 3 = não concordo nem discordo, 4 = concordo e 5 = concordo totalmente) na segunda rodada, que incluiu questões que não atingiram o corte mínimo na primeira etapa. Resultados: Nove especialistas participaram e houve consenso sobre recomendações para profilaxia, padrões de tratamento de sangramento e locais de sangramento. O acesso venoso e a frequência da infusão foram identificados como as barreiras mais significativas para melhorar o tratamento do paciente. De acordo com a maioria, emicizumabe não substituirá a ITI ou tratamento com fator VIII de longo prazo. Emicizumabe foi considerado uma boa opção terapêutica para

Evaluación de profilaxis con factor VIII de origen plasmático en pacientes con hemofilia A severa / Evaluation of factor VIII prophylaxis of plasmatic origin in patients with severe hemophilia A / Avaliação da profilaxia do fator VIII de origem plasmática em pacientes com hemofilia A grave

Introducción: la hemofilia A severa (HAS) es una enfermedad hemorrágica hereditaria causada por un déficit de factor VIII (FVIII) menor al 1%. Se presenta principalmente con sangrados articulares, los cuales provocan una artropatía hemofílica que afecta su independencia funcional. El uso de la profilaxis terciaria con FVIII ofrece beneficios en adultos disminuyendo la tasa anual de sangrado (TAS) y mejorando la independencia funcional. Objetivo: determinar el porcentaje de pacientes que logran mantener un nivel de FVIII mayor al 1%, conocer si existe una mejora en la independencia funcional, así como una disminución en la TAS con el régimen profiláctico empleado. Métodos: estudio observacional, analítico. Se incluyó a los pacientes con HAS que se controlaron en el Hospital de Clínicas "Dr. Manuel Quintela" durante 2020 en profilaxis con FVIII durante 12 meses. Se obtuvieron tres muestras separadas en el tiempo para dosificación de FVIII y se evaluó la TAS y la independencia funcional en cada paciente. Resultados: se analizaron ocho pacientes, todos presentaron valores de FVIII superiores al 1% a la hora y 24 horas posterior a la administración de FVIII. Los episodios de sangrado se redujeron 4,76 veces con el uso de la profilaxis (p = 0,019). La independencia funcional mostró que 5/8 pacientes mejoraron al menos 1 punto del score. Conclusiones: la profilaxis terciaria en estos pacientes fue beneficioso en reducir la TAS y mejorar su capacidad funcional.

Summary: Introduction: severe hemophilia A (SAH) is an hereditary hemorrhagic disease, caused by a factor VIII (FVIII) deficiency of less than 1%. It presents with joint bleeding mainly, which causes a hemophilic arthropathy, which affects its functional independence. The use of tertiary prophylaxis with FVIII offers benefits in adults by decreasing the annual bleeding rate (ABR) and improving functional independence. Objective: to determine the percentage of patients who manage to maintain an FVIII level greater than 1%, to know if there is an improvement in functional independence, as well as a decrease in the ABR with the prophylactic regimen used. Methods: observational, analytical study. Patients with SAH who were controlled at the Hospital de Clínicas "Dr. Manuel Quintela", during the year 2020, in prophylaxis with FVIII for 12 months were included. Three samples separated in time for FVIII dosing were obtained and the ABR and functional independence were evaluated in each patient. Results: 8 patients were analyzed, all presented FVIII higher than 1% at one hour and 24 hours after the administration of FVIII. The bleeding episodes were reduced 4.76 times with the use of Prophylaxis (p = 0.019). Functional independence showed that 5/8 patients improved at least 1 point in the Score. Conclusions: tertiary prophylaxis in these patients was beneficial in reducing SAD and improving their functional capacity.

Introdução: a hemofilia A grave (HAS) é uma doença hemorrágica hereditária, causada pela deficiência do fator VIII (FVIII) inferior a 1%. Apresenta-se principalmente com sangramento articular, que causa artropatia hemofílica, que afeta sua independência funcional. O uso de profilaxia terciária com FVIII oferece benefícios em adultos, reduzindo a taxa de sangramento anual (TAS) e melhorando a independência funcional. Objetivos: determinar a porcentagem de pacientes que conseguem manter um nível de FVIII maior que 1%, identificar uma possível melhora da independência funcional, bem como uma diminuição da TAS com o esquema profilático utilizado. Métodos: estudo observacional, analítico de pacientes com HAS controlados no Hospital das Clínicas "Dr. Manuel Quintela", durante o ano de 2020, em profilaxia com FVIII durante 12 meses. Foram obtidas três amostras separadas no tempo para dosagem de FVIII e avaliação da TAS e da independência funcional de cada paciente. Resultados: foram analisados 8 pacientes, todos apresentaram FVIII maior que 1% em uma hora e 24 horas após a administração do FVIII. Os episódios de sangramento foram reduzidos 4,76 vezes com o uso da profilaxia (p = 0,019). A independência funcional mostrou que 5/8 pacientes melhoraram pelo menos 1 ponto do escore FISH. Conclusões: a profilaxia terciária nesses pacientes foi benéfica na redução da TAS e na melhora da capacidade funcional.

Perfil epidemiológico de pacientes com Hemofilia A e doenças associadas ao uso do fator VIII/recombinante / Epidemiological profile of patients with Hemophilia A and diseases associated with the use of factor VIII/recombinant

Introdução: o Brasil é o quarto país em casos de Hemofilia A. O tratamento é infundir o fator de coagulação ausente. Reações ao uso do fator podem incluir manifestações alérgicas, doenças virais transfusionais e aloanticorpos. Objetivo: analisar o perfil epidemiológico de pacientes com Hemofilia A, e as doenças associadas ao uso do fator VIII e fator VIII recombinante. Metodologia: estudo transversal descritivo e retrospectivo. A coleta de dados foi realizada nos prontuários de pacientes com diagnóstico de hemofilia A, preenchidos com mais de 70% das informações, na Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas, Brasil. Resultados: o Ministério da Saúde identificou no Estado do Amazonas, o registro de 276 indivíduos com diagnóstico de Hemofilia A. Incluídos para análise neste estudo 164 prontuários. Características sociodemográficas: homens 99,4%, adolescentes (28%) e jovens (26,8%); de cor parda 67,1%, ensino fundamental incompleto 28,6% e, exercendo a ocupação de estudante 42,7%. Condição clínica: 36,6% classificados com hemofilia A grave. Todos os pacientes tiveram diagnóstico clínico e laboratorial. O parentesco mais comum é o de irmãos com 35,3%. Sintomas predominantes: hemartrose 45,4%; dor 31,9%; edema 24% e artropatia 8,5%. O fator VIII recombinante, administrado em 34,8% dos pacientes, enquanto o fator VIII plasmático em 28,0%. Administrados doses de 2000UI a 2999UI. As complicações: artralgia 77,4% e hemorragia 77,4%. Conclusão: cuidados qualificados dos profissionais de saúde auxiliam na prevenção de complicações sérias, resultando em qualidade de vida ao hemofílico.

Introduction: Brazil is the fourth country in cases of Hemophilia A. The treatment is to infuse the missing clotting factor. Reactions to the use of the factor can include, allergic manifestations, transfusion viral diseases and alloantibodies. Objective: analyze the epidemiological profile of patients with Hemophilia A, and the diseases associated with the use of factor VIII and recombinant factor VIII. Methodology: descriptive and retrospective cross-sectional study. Data collection was carried out in the medical records of patients diagnosed with hemophilia A, filled with more than 70% of the information, at the Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas, Brazil. Results: in the Ministry of Health of Brazil, it was identified, for the State from Amazonas, the registry of 276 individuals diagnosed with Hemophilia A. Included in the analysis for this study, 164 medical records. Sociodemographic characteristics: male, 99.4%, adolescents (28%) and young people (26.8%), brown skin color, 67.1%, incomplete elementary school, 28.6%, and working as a student, 42.7%. Clinical condition: 36.6% classified with severe hemophilia A. All patients had a clinical and laboratory diagnosis. The most common kinship is that of brothers, 35.3%. Predominant symptoms: hemarthrosis 45.4%, pain 31.9%, edema 24% and arthropathy 8.5%. Recombinant factor VIII, administered in 34.8% of patients, while plasma factor VIII in 28.0%. Doses of 2000 IU to 2999 IU were administered. Complications: arthralgia 77.4% and hemorrhage 77.4%. Conclusion: qualified care by health professionals helps to prevent serious complications, resulting in quality of life for the hemophiliac.

Infusão endovenosa domiciliar: tecnologias educativas para o cuidado à pessoa com hemofilia / Infusión intravenosa domiciliaria: tecnologías educativas para el cuidado de personas con hemofilia / Home intravenous infusion: educational technologies for the care of people with hemophilia

Resumo Objetivo Elaborar e validar tecnologias educativas para o cuidado domiciliar de pessoas com hemofilia em infusão endovenosa do fator de coagulação. Método Estudo metodológico, desenvolvido em três etapas: elaboração de tecnologias educativas, avaliação de conteúdo e aparência por juízes e apreciação por pessoas com hemofilia. As tecnologias educativas − cartilha e infográfico − foram elaboradas mediante revisão de literatura. Na etapa de avaliação com juízes, foi utilizada a técnica Delphi em duas rodadas, por meio do Índice de Validade de Conteúdo, concordância superior a 0,80 em relação a clareza de linguagem, pertinência prática e relevância teórica. Na avaliação com o público-alvo, foi considerado o nível de concordância de respostas positivas maior ou igual a 80% nos itens de organização, o estilo de escrita, a aparência e a motivação para a leitura. Resultados A cartilha apresentou índice de validade de conteúdo global de 0,88 na primeira rodada e 0,98 na segunda; e o infográfico, 0,88 na primeira rodada e 0,97 na segunda. Na apreciação das tecnologias educativas pelo público-alvo, o nível de concordância das respostas positivas foi superior a 80%. Conclusão Este estudo elaborou tecnologias educativas, cartilha e infográfico, que poderão contribuir com a adesão ao tratamento e promoção do cuidado, por meio de padronização das orientações às pessoas com hemofilia em infusão endovenosa domiciliar.

Resumen Objetivo Elaborar y validar tecnologías educativas para el cuidado domiciliario de personas con hemofilia sobre la infusión intravenosa domiciliaria del factor de coagulación. Métodos Estudio metodológico desarrollado en tres etapas: elaboración de tecnologías educativas, evaluación de contenido y apariencia por jueces y valoración por parte de personas con hemofilia. Las tecnologías educativas (cartilla e infográfico) fueron elaboradas mediate revisión de literatura. En la etapa de evaluación con jueces, se utilizó el método Delphi en dos rondas, por medio del Índice de Validez de Contenido, concordancia superior a 0,80 con relación a la claridad del lenguaje, pertinencia práctica y relevancia teórica. En la evaluación con el público destinatario, se consideró el nivel de concordancia de respuestas positivas mayor o igual a 80 % en los ítems organización, estilo de escritura, apariencia y motivación para lectura. Resultados La cartilla presentó un Índice de Validez de Contenido global de 0,88 en la primera ronda y 0,98 en la segunda. El infográfico presentó 0,88 en la primaria ronda y 0,97 en la segunda. En la valoración de las tecnologías educativas por el público destinatario, el nivel de concordancia de las respuestas positivas fue superior al 80 %. Conclusión En este estudio se elaboraron tecnologías educativas, cartilla e infográfico, que podrán contribuir con la adherencia al tratamiento y promoción del cuidado, mediante la estandarización de las instrucciones a personas con hemofilia sobre infusión intravenosa domiciliaria.

Abstract Objective To develop and validate educational technologies for home care of people with hemophilia on intravenous infusion of clotting factor. Method This is a methodological study, developed in three stages: development of educational technologies, content and appearance assessment by judges, and appraisal by people with hemophilia. The educational technologies - a booklet and an infographic - were developed through a literature review. In the assessment stage with judges, the Delphi technique was used in two rounds, through Content Validity Index, agreement greater than 0.80 in regarding clarity of language, practical relevance, and theoretical relevance. In the assessment with the target audience, the level of agreement of positive responses greater than or equal to 80% in the items of organization, writing style, appearance and motivation for reading was considered. Results The booklet presented a global content validity index of 0.88 in the first round and 0.98 in the second; and the infographic, 0.88 in the first round and 0.97 in the second. In the assessment of educational technologies by the target audience, the level of agreement of positive responses was higher than 80%. Conclusion This study developed educational technologies, a booklet and an infographic, which could contribute to adherence to treatment and promotion of care, by standardizing the guidelines for people with hemophilia in intravenous infusion at home.

Analysis of epidemiological and economic data of hemophilia A patients in Brazil / Análise de dados epidemiológicos e econômicos de pacientes com hemofilia A no Brasil

Objective: To describe the annual medical direct costs per hemophilia A (HA) patient in the Brazilian public healthcare system (SUS) and to understand and describe the patients' hospital journey, demographical characteristics, and the procedures in the. Methods: This retrospective analysis of DataSUS databases. Data from individuals with registries of HA treatment were gathered between January 1st, 2018, and June 30th, 2021. Besides the D66 ICD-10th code (HA), were also considered the occurrence of some procedures like factor VIII dosage and by-pass therapy dispensation or administration as inclusion criteria. Exclusion criteria were occurrence of factor IX dispensation and female patients were excluded, among others. A record linkage using sociodemographic characteristics was conducted to identify unique patients. Results: Were identified 2,298 individuals underwent ambulatory and 1,018 underwent hospital treatments. The results show that most patients are from the Southeast region of the country, white and middle-aged individuals. The median cost of HA treatment per patient-year was BRL 90.36 for ambulatory care and BRL 1,015.31 for hospital care procedures. The costs were significantly higher for more severe patients and for those between 12 and 18 years old (BRL 1,974.75 and BRL 1,049.09, respectively). Conclusion: The evidence demonstrated encourages the implementation of policies aiming to improve the quality of care provided to patients with HA. Providing referral centers for hemophiliac patients is primordial for the success of the treatment and can result in efficiency.

Objetivo: Descrever os custos médicos diretos anuais por paciente com hemofilia A (HA) no sistema público de saúde brasileiro (SUS) e compreender e descrever a jornada do paciente em âmbito hospitalar, as características demográficas e os procedimentos realizados no SUS. Métodos: Análise retrospectiva das bases de dados do DataSUS. Foram coletados dados de indivíduos com registro de tratamento de HA entre 1º de janeiro de 2018 e 30 de junho de 2021. Além do código D66 CID-10 (HA), foi considerada a ocorrência de procedimentos como dosagem do fator VIII e dispensação ou administração de terapia de by-pass como critérios de inclusão. Dentre os critérios de exclusão, destacam-se a dispensação do fator IX e indivíduos do sexo feminino. Um pareamento de registros usando características sociodemográficas foi realizado para identificar pacientes únicos. Resultados: Foram identificados 2.298 indivíduos em tratamento ambulatorial e 1.018 em tratamento hospitalar. Os resultados mostraram que a maioria dos pacientes são da região Sudeste do país, brancos e de meia-idade. O custo médio do tratamento da HA por paciente-ano foi de R$ 90,36 para atendimento ambulatorial e de R$ 1.015,31 para atendimento hospitalar. Os custos foram significativamente maiores para pacientes mais graves e entre 12 e 18 anos (R$ 1.974,75 e R$ 1.049,09, respectivamente). Conclusão: As evidências demonstradas incentivam a implementação de políticas que visem melhorar a qualidade da assistência prestada aos pacientes com HA. A disponibilização de centros de referência para pacientes hemofílicos é primordial para o sucesso do tratamento e pode resultar em maior eficiência.

Autonomía y dignidad en personas que viven con hemofilia / Autonomy and dignity in people living with hemophilia

INTRODUCCIÓN. La hemofilia es una condición rara hereditaria, crónica, potencialmente discapacitante e incapacitante, caracterizada por frecuentes sangrados debidos al déficit del factor VIII coagulante, Hemofilia A o del factor IX Hemofilia B. Las evaluaciones de calidad de vida en personas con hemofilia, basadas principalmente en el aspecto biológico, llevaron a considerar un importante enfoque bioético que evalúe la afectación de la autonomía y dignidad debida a la enfermedad. OBJETIVO. Registrar la percepción de la autonomía y dignidad de personas que viven con hemofilia. MATERIALES Y MÉTODOS. Estudio descriptivo transversal. Población de 92 y muestra de 28 varones mayores de 18 años con diagnóstico de hemofilia, atendidos en la Clínica de Coagulopatías Congénitas del Hospital de Especialidades Carlos Andrade Marín en el periodo marzo 2021 a agosto del 2021. Se excluyó a varones menores de 18 años atendidos en otras instituciones del Sistema Nacional de Salud. Estudio basado en el desarrollo de las capacidades centrales descritas por Martha Nussbaum. Se aplicó el test The Hemophilia Well Being Index que evaluó calidad de vida con relación al bienestar personal asociado a salud, y la herramienta Body Mapping que analizó en base al interpretativismo fenomenológico. RESULTADOS. El 100% de personas presentaron afectación en algún área de la vida investigada por el Hemophilia Well Being Index, que se confirma con las expresiones escritas y gráficas recopiladas por el Body Mapping. CONCLUSIÓN. La autonomía y dignidad se encuentran afectadas en las personas que viven con hemofilia, al igual que las capacidades centrales; es importante valorar cómo estos parámetros afectan la consecución de logros, lo que se debe considerar en estudios futuros.

INTRODUCTION. Hemophilia is a rare hereditary, chronic, potentially disabling and incapacitating condition, characterized by frequent bleeds due to deficiency of clotting factor VIII, Hemophilia A or factor IX Hemophilia B. Quality of life assessments in people with hemophilia, mainly based on the biological aspect, led to consider an important bioethical approach that evaluates the impairment of autonomy and dignity due to the disease. OBJECTIVE. To record the perception of autonomy and dignity of people living with hemophilia. MATERIALS AND METHODS. Cross-sectional descriptive study. Population of 92 and sample of 28 males over 18 years of age with a diagnosis of hemophilia, attended at the Congenital Coagulopathy Clinic of the Carlos Andrade Marin Specialty Hospital in the period March 2021 to August 2021. Males under 18 years of age attended in other institutions of the National Health System were excluded. The study was based on the development of the central capabilities described by Martha Nussbaum. The test The Hemophilia Well Being Index was applied, which evaluated quality of life in relation to personal wellbeing associated with health, and the tool Body Mapping which analyzed based on phenomenological interpretivism. RESULTS. 100% of people presented affectation in some area of life investigated by the Hemophilia Well Being Index, which is confirmed by the written and graphic expressions collected by the Body Mapping. CONCLUSION. Autonomy and dignity are affected in people living with hemophilia, as are core capacities; it is important to assess how these parameters affect achievement, which should be considered in future studies.