[Registry of Members of the Association of Patients with Hereditary Angioedema of Perú]. / Registro de miembros de la Asociación de Pacientes con Angioedema Hereditario de Perú.

OBJECTIVE: To report the registry of the HAE Peruvian patient's association. METHODS: We used the questionnaire of the Latin American HAE committee. Consent was requested from the patient's association to report the data. RESULTS: We report data of 63 patients, 51 Female, 12 Male, range age between 6 to 74 years. Nine under 18 years old, 5/9 between 6 to 13 years. Forty-five HAE C1-INH type I, 12 HAE-FXII, 5 HAE UNK, 1 AAE. Symptoms onset average age in 56/62 HAE patients was 16.8. In a group of 50/62 adult HAE patients, the average diagnostic delay approximately was 19.3 years. Laboratory tests: we can perform C4 complement C1-inhibitor antigenic and functional tests. Treatments: The patients have access to tranexamic acid (TA) and attenuated androgens. We do not have registered specific long-term prophylaxis treatments. We used moderate/high doses of TA, in most patients up to 6 gr i.v./in 24 hours, we start with the treatment immediately the HAE acute crisis is beginning, it helps to the HAE attacks are less symptomatic, resolves in a few days and decrease the frequency. CONCLUSIONS: We present 63 members of the Association of Patients with Hereditary Angioedema of Perú. We have improved blood tests for HAE diagnosis. Moderate and high doses of Tranexamic Acid are used for prophylaxis and acute crisis respectively, with acceptable response. No deaths have been reported due to HAE crisis in the patient's association.

OBJETIVO: Reportar el registro de pacientes de la Asociación de Pacientes con Angioedema Hereditario de Perú, AEH. MÉTODOS: Se utilizó el cuestionario del Comité de AEH, de la Sociedad Latinoamericana de Alergia, Asma e Inmunología (SLAAI). Se solicitó el consentimiento a la Asociación de Pacientes para reportar los datos. RESULTADOS: Se reportan datos de 63 pacientes, 51 mujeres y 12 hombres, en un rango de edad entre 6 y 74 años. Nueve menores de 18 años, 5/9, entre 6 y 13 años. 45 con AEH-C1-INH tipo I, 12 AEH-FXII, 5 AEH-D, 1 AEA. La edad promedio de inicio de síntomas en 56/62 pacientes fue de 16,8. En 50/62 pacientes adultos con AEH, el promedio de tiempo de espera en el diagnóstico fue de 19,3 años. Laboratorio: Se puede desarrollar C4 complemento, C1-Inhibidor antigénico y funcional. Tratamientos: Se cuenta con acceso al ácido tranexámico (AT) y andrógenos atenuados. No se cuenta con tratamientos específicos para profilaxis de largo plazo. Se utilizaron dosis moderadas/altas de (AT), hasta 6 g por I V/ en 24 horas, inmediatamente, al inicio de las crisis de AEH, ayuda a que los ataques no sean tan intensos y tengan menor duración y frecuencia. CONCLUSIONES: Se presentan 63 miembros de la Asociación de Pacientes con Angioedema Hereditario de Perú. Se han mejorado los exámenes sanguíneos para el diagnóstico del AEH. Se utilizaron dosis moderadas/altas de ácido tranexámico con aceptable respuesta en los pacientes. No se han presentado decesos por crisis de AEH en los miembros de la Asociación.

Universal Access to On-Demand Treatment of Patients with Hereditary Angioedema, the Chilean Experience.

Background: In Chile, patients with hereditary angioedema (HAE) type I and type II are protected under Ley Ricarte Soto (LRS), which guarantees access to on demand plasma-derived C1-INH (pdC1-INH) since 2018. We aimed to analyze the first 3 years of LRS. Methods: Review of the LRS database between 2018 and 2021. Results: During the study period, 154 patients were covered by LRS, with an estimated prevalence of HAE in Chile at 0.8:100,000 inhabitants. A delay in diagnosis of 22 years was noted, 50 patients received epinephrine during an attack before the diagnosis of HAE. Mean number of attacks per year was 8, with 50% of adults and 42% of children experiencing more than 1 attack per month. Conclusion: Disease awareness must improve to reduce the diagnostic delay of HAE. Long-term prophylactic medications should be included in LRS to treat patients with high attack rates and control the costs of frequent on-demand treatment with pdC1-INH.

[Health related to quality life of patients with hereditary angioedema in Argentina. A multicenter study]. / Calidad de vida relacionada con la salud en pacientes con angioedema hereditario de Argentina. Estudio multicéntrico.

OBJECTIVE: To describe health relaed quality of life in a cohort of stable adult outpatients with hereditary an-gioedema (HAE) with validated tools. METHODS: An observational, cross-sectional, and descriptive study was performed, carried out in patients with hereditary angioedema, coming from the City of Buenos Aires and its provinces: Corrientes, Chubut, Entre Ríos and Santa Fe. The HAE-QoL and SF-12v2 health questionnaires were applied to assess the related quality of life. with health. RESULTS: 100 patients were included; median age: 41.5 years (range: 18-77); 65% were female, and 79% had type 1 HAE. Asymptomatic, mild, moderate and severe cases accounted for 6, 29, 38, and 27% of participants, respectively. Seventeen percent of patients were receiving long-term prophylaxis. Icatibant was the most fre-quent treatment for acute episodes. All health domains SF-12v2 scores were lower than expected in general population, excepting "vitality" and "physical functioning". Total and all specific domains HAE-QoL scores were reduced. Differences between women and men and in every age-defined group were demonstrated for sev-eral specific domains. CONCLUSIONS: Health relaed to quality life was notably reduced in Argentinean patients with HAE, when imple-menting the HAE.QoL, and SF-12v2 questionnaries. The need for multidisciplinary strategies approaching this complex disease is highlighted.

OBJECTIVO: Describir la calidad de vida relacionada con la saluden pacientes adultos, ambulatorios y estables con angioedema hereditario, mediante cuestionarios validados. MÉTODOS: Estudio descriptivo, transversal y observacional, llevado a cabo en pacientes con angioedema here-ditario, procedentes de la Ciudad de Buenos Aires y sus provincias: Corrientes, Chubut, Entre Ríos y Santa Fe. Se aplicaron los cuestionarios HAE-QoL y SF-12v2 para evaluar la calidad de vida relacionada con la salud. RESULTADOS: Se incluyeron 100 pacientes, con mediana de edad de 41.5 años (rango: 18-77), principalmente de género femenino (65%). La forma más frecuente de angioedema hereditario fue el tipo 1 (79%). Los casos asintomáticos, leves, moderados y severos representaron el 6, 29, 38 y 27%, respectivamente. El 17% recibía profilaxis a largo plazo. Icatibant fue el tratamiento más prescrito para los episodios agudos de angioedema. Todos los puntajes de los dominios de salud del SF-12v2 fueron menores de lo esperado, excepto "vitalidad" y "funcionamiento físico". Se observó disminución en los puntajes totales y en todos los dominios del HAE-QoL. Se reconocieron diferencias entre las mujeres y los hombres, y para grupo etario en los puntajes de los dominios específicos. CONCLUSIONES: La calidad de vida relacionada con la salud disminuyó considerablemente en pacientes argentinos con angioedema hereditario al aplicar los cuestionarios HAE-QoL y SF-12v2. Es importante desarrollar estra-tegias multidisciplinarias para abordar esta enfermedad compleja.

The Mortality from Hereditary Angioedema Worldwide: a Review of the Real-World Data Literature.

This study aims to review the global mortality secondary to laryngeal edema in patients diagnosed with hereditary angioedema and their relatives over the years, as well as to describe epidemiological and clinical findings associated with this outcome. An extensive search of the literature was made in PubMed, Scopus, and Embase to identify mortality rates secondary to laryngeal edema in patients with hereditary angioedema. The search was carried out in September of 2020 and in April of 2021, and keywords based on the MeSH terms were searched in three databases. The filter of language was used for finding only articles in English, and there was no limit to the year of publication. A total of twenty-three articles fulfilled the inclusion criteria for review and data extraction. The analyzed studies included 3292 patients and 411 deaths from asphyxia due to laryngeal edema. One hundred and three deaths in close relatives were described as secondary to the same cause. The main findings were summarized in tables: year and place of publication, the number of patients and deaths from laryngeal edema, patients previously diagnosed, and death age. Death rates from laryngeal edema had an average of one death for every 20 patients. Eight studies reported deaths in relatives. For every 7.4 patients in these studies, one relative died. The percentage among deaths in general associated with laryngeal edema was evaluated in three studies (32.7%, 44.4%, and 56%). The high frequency of this outcome suggests that deaths still occur, and improvement of hereditary angioedema treatment still needs to be met.

Racial and Ethnic Disparities in the Research and Care of Hereditary Angioedema Patients in the United States.

BACKGROUND: Hereditary angioedema (HAE) affects all races and both sexes equally. Minority patients are underrepresented in clinical trials and may be at risk for additional disease burden. OBJECTIVES: To examine racial and ethnic disparities in the research and care of patients with HAE. METHODS: We conducted a retrospective population-based study using TriNetX Diamond Network. International Classification of Diseases, 10th Revision, Current Procedural Terminology, and RxNorm codes identified patients with HAE. The proportions of White, Black, and Hispanic patients with HAE were contrasted with racial and ethnic distributions of patients with HAE in clinical trials. Lifetime prevalence of mental health disorders and HAE treatments was contrasted among different racial and ethnic groups. RESULTS: A population-based search identified 2122 patients with HAE. The prevalence of HAE among Black patients (1.64/100,000 patients) mirrored that of White patients (1.47/100,000 patients), whereas there was a lower HAE prevalence among Hispanic patients (0.80/100,000 patients). The demographics of the 1274 patients with HAE included in phase 2/3 clinical trials differed significantly from population-based data with overrepresentation of White patients (89.9% vs 77.9%) and underrepresentation of Black patients (3.8% vs 13.6%) and Hispanic patients (1.3% vs 8.1%). Across the different racial and ethnic groups of patients with HAE, the prevalence of mental health disorders was comparatively higher than among patients without HAE. Whereas depression was equally prevalent across the different HAE racial and ethnic groups, anxiety was more prevalent among White patients. CONCLUSIONS: Clinical trials for Food and Drug Administration-approved HAE medications underrepresent minority patients. Hereditary angioedema remains underdiagnosed in Hispanic patients. Other than a lower prevalence of anxiety disorders among Black patients relative to White patients, the mental health impact of HAE is equally distributed across the different racial and ethnic groups.

Decreasing Attacks and Improving Quality of Life through a Systematic Management Program for Patients with Hereditary Angioedema.

INTRODUCTION: Prevention of attacks is a major goal in management of patients with hereditary angioedema (HAE). We aimed to investigate the effects of a systematic intervention for HAE patients. METHODS: Thirty-three patients with HAE with C1-inhibitor deficiency, belonging to a single family, participated in a management program coordinated by an allergist/immunologist. Angioedema attacks before intervention were ascertained by interviews and emergency room charts and recorded prospectively by patients or caregivers after enrollment. Mean number of attacks/month was compared at 12 months preintervention and 8 and 14 months within intervention. Patient-reported outcome instruments were used to assess quality of life, including HAE Quality of Life (HAE-QoL) questionnaire, psychological conditions, and work impairment, at baseline and 8 and 14 months within intervention. Data were stored in REDCap platform and analyzed by adjusted Bayesian models of double Poisson regression. RESULTS: Mean number of attacks/month significantly decreased (95% credible interval [CrI] excluding 0) from 1.15 preintervention to 0.25 and 0.23, 8 and 14 months within intervention, with mean decreases of -0.89 (95% CrI: -1.21 to -0.58) and -0.92 (95% CrI: -1.22 to -0.60), respectively. HAE-QoL scores showed mean total increases of 15.2 (95% CrI: 1.23-29.77) and 26 (95% CrI: 14.56-39.02) at 8 and 14 months within the study, as compared to baseline, revealing marked improvement in quality of life. Significant increase in role-emotional and reduction of depression, stress, and anxiety were observed at 14 months. CONCLUSION: A systematic approach integrating HAE-specific care with effective handling of psychological issues decreased the number of attacks and improved quality of life, targets for best practice in HAE.

The Challenges in the Follow-Up and Treatment of Brazilian Children with Hereditary Angioedema.

INTRODUCTION: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis's delay has a strong impact on the patient's quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. METHODS: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. RESULTS: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. CONCLUSIONS: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.

The Panorama of Primary Angioedema in the Brazilian Population.

BACKGROUND: Primary angioedema (PA) is a complex disorder, presenting multiple hereditary (hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very similar clinical presentation among subtypes, the differential diagnosis is limited by the difficulty to identify bradykinin-mediated PA and the lack of specific biomarkers. OBJECTIVES: To report the clinical and genetic features of Brazilian patients with PA. METHODS: Brazilian patients referred from 50 centers were diagnosed on the basis of clinical symptoms, C1 inhibitor (C1-INH) and C4 plasma measurements, and DNA sequencing of genes associated with hereditary angioedema. RESULTS: We characterized 92 patients with acquired angioedema and 425 with HAE: 125 with C1-INH deficiency, 180 with F12 mutations, and 120 of unknown cause. Thirty-one different mutations were identified in SERPING1 and 2 in F12, in addition to 2 mutations of uncertain significance in the ANGPT1 gene. The molecular diagnosis was decisive for 34 patients with HAE without family history, and for 39% of patients with inconsistent biochemical measurements. The median delay in diagnosis was 10 years, with a maximum of 18 years for HAE with C1-INH deficiency. Androgens and tranexamic acid were the most used drugs for long-term prophylaxis in all the PA subtypes, and they were used on demand by 15% of patients. Only 10% of patients reported the use of specific medication for HAE during attacks. CONCLUSIONS: Our analysis exposes a broad picture of PA diagnosis and management in a developing country. Complement measurements presented considerable inconsistencies, increasing the diagnosis delay, while patients with PA with normal C1-INH remain with an inaccurate diagnosis and unspecific treatment.

Hereditary angioedema: a prospective study of a Brazilian single-center cohort.

BACKGROUND: Hereditary angioedema (HAE) is rare and still underdiagnosed in some countries. We aimed to describe HAE diagnosis and sociodemographic and clinical features in patients with HAE due to C1 inhibitor deficiency (HAE-C1-INH) followed up at a tertiary-level center in Rio de Janeiro, Brazil. METHODS: A descriptive, cross-sectional study with prospective data collection of 138 Brazilian patients with HAE was performed. From the total, 107 patients with HAE-C1-INH were selected. Data were assessed based on a specific questionnaire. RESULTS: One hundred and five patients had HAE type I (76.1%), and two had HAE type II (1.4%). Seventy-two were female (67.3%), and 35 were male  (32.7%). Mean age was 38.0 ± 15.0 years (range: 12-73 years). A long delay (17.7 ± 12.6 years) until diagnosis was observed. About 86.9% had a familial history. Cutaneous edema (95.8%), abdominal pain (88.5%), and laryngeal edema (65.6%) were the most frequent symptoms. Triggering factors (95.8%) and prodromal symptoms (47.9%) were referred. Attacks were severe in 55.1% and moderate in 24.3%. Eleven (10.3%) were asymptomatic. HAE attacks were more frequent and severe (P = 0.021) in females. CONCLUSIONS: We observed a considerable delay in diagnosis, even with familial history. The severity of HAE attacks, especially in females, highlights the need for an awareness of disease by gynecologists and obstetricians. Screening of familial members, including asymptomatic individuals, is critical for earlier diagnosis. Regional evaluation of patient profiles can be helpful to draw more attention about HAE and to improve quality of life.

Assessment on hereditary angioedema burden of illness in Brazil: A patient perspective.

Background: Hereditary angioedema (HAE) is an autosomal dominant disorder that affects ∼1 in 50,000 individuals. The disorder is characterized by spontaneous and gradual episodes of edema in subcutaneous tissues or mucosal membrane that may endanger the patient's life. Previous studies that concern HAE treatment and burden of illness in the United States and Europe suggest an improvement in the control of HAE. However, no similar data are available in South American patients. The purpose of the present study was to evaluate the burden of disease and compliance to therapy of patients with HAE in Brazil. Methods: We developed a structured questionnaire to assess the variables that influence the diagnosis and treatment of Brazilian patients with HAE. The questionnaire was evaluated by allergists with expertise in HAE and was reformatted before applying it. The consent form was included before survey access; approval from the ethic committee of Faculdade de Medicina do ABC (Santo André, São Paulo, Brazil) was ensured. The Brazilian association of patients with HAE distributed the survey by e-mail to associated patients all over the country, and responses were accepted within a period of 3 months after signing a consent form. Results: Ninety patients (67 women, 23 men; average age, 36.5 years) responded; the main findings were the following: 53 of 90 (64%) had no need of visiting emergency departments in the past 6 months; 71 of 90 (79%) reported life-threatening fear due to their diagnosis; 73 of 90 (83%) had other family members affected, but 54 of 73 of these affected relatives did not look for specific HAE treatment; and 26 of 90 (29%) reported death due to asphyxia or throat swelling in family members. Conclusion: Patients with HAE report understanding how severe their diagnosis represent, but they did not ponder how important their commitment to treatment may decrease the constant fear brought by the disease in its possible swelling crisis. Family data supported this conclusion.

Clinical profile and quality of life of Puerto Ricans with hereditary angioedema.

Background: There is limited data on clinical characteristics and quality of life (QoL) of Hereditary angioedema (HAE) patients in Puerto Rico. Objective: Create an epidemiological and clinical profile of patients with HAE and assess the burden of this condition on the general health of Puerto Ricans suffering the disease. Methods: A cross-sectional study was performed in 32 Puerto Rican patients with HAE. To obtain data on sociodemographic characteristics, clinical symptoms and treatment, a clinical survey based on a Spanish adaptation of the "HAEA Patient Summit Questionnaire 2015" was used. To measure QoL, the SF-36v2 questionnaire was used. IBM SPSS 22.0 (IBM, NY, USA) and QualityMetric Health Outcomes™ Scoring Software 4.5 was utilized for statistical analysis. Results: The most common type of HAE was Type I (41.9%). In 1 year, 32.3% of patients present 2-3 attacks per month. The most common locations were: abdomen and face. Seventy-eight percent of patient developed laryngeal edema but only 6.5% needed tracheotomy. Fifty-eight percent of patients were using prophylaxis therapy; C1 esterase inhibitor (68.7%) being the most common. Eighty-one percent of patients were using rescue medication; Icatibant (80.8%) being the most common. Compared with US population norms of quality of life, patients with HAE in Puerto Rico reported significantly lower scores, both in the physical component (62%) and in the mental components (58%). The most affected parameters were emotional (38.52), physical (39.19) and social (39.79) components. Gender differences were observed in our sample; females scored below males in all components except for general health. Conclusion: Puerto Rican Hispanics showed a similar epidemiologic and clinical profile to previous studies, however; higher frequency of attacks was prominent. Our study demonstrates a substantial and noteworthy decrease in quality of life in HAE patients and an increase risk for depression, particularly among woman.

Hereditary Angioedema: An Updated Experience with Patients with Angioedema in Puerto Rico.

OBJECTIVE: This was a study of patients with hereditary angioedema (HAE) and their responses to new therapies, measured in terms of HAE attack rates, the number of hospitalizations and emergency room (ER) visits, and the impact of HAE on their quality of life (QOL). METHODS: Patients that came at a private practice with recurrent angioedema without urticaria from 2013 through 2016. All HAE (types I & II) patients received rescue treatment and prophylaxis for those who had 2 or more attacks per month. RESULTS: Of 48 patients, 22 (45.8%) patients with HAE (I or II) were identified. 45.5% of those HAE patients were on prophylaxis and 77.3% were on rescue therapy. Treatment effects were reported as percentages of the HAE patients in each attack/month category: Before treatment, 41.2% of the patients had 0 to 1 attack; after treatment, 84.2%. Similarly, 23.5% had 2 to 3 attacks before treatment, fell to 17.6%, after treatment. Finally, 35.3% experienced more than 3 attacks prior to treatment; and none after treatment. The number of ER visits in 6 months decreased from 64 (3.8 per patient) to 7 (0.4 per patient), and hospitalizations in 6 months decreased from 35 (2.1 per patient) to 7 (0.4 per patient) after treatment. The diagnosis delay averaged 4.3 years; patients diagnosed on or before 2012 averaged 8.6 years; patients diagnosed after 2012 averaged 0.4 years. CONCLUSION: HAE patients showed improved treatment responses as documented by decreased diagnostic delay, attack rates, ER visits and hospitalizations and improved QOL in treated patients.

Hereditary angioedema education in otolaryngology residencies: survey of program directors.

BACKGROUND: The objective of this work was to assess resident education regarding contemporary management of hereditary angioedema using a web-based survey. METHODS: An 11-item, multiple-choice, electronic questionnaire was sent to all 106 accredited otolaryngology training programs in November 2016. Questions focused on resident education, management principles, and formalized assessment. RESULTS: A total of 34 program directors responded, representing 32% of otolaryngology residences. Ninety-seven percent believed otolaryngology residents should be knowledgeable in the management of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). Specifically, 38% and 26% of program directors felt their residents were comfortable and very comfortable in C1-INH-HAE management, respectively. Of those surveyed, 18% have educational simulation activities and a protocol in place for C1-INH-HAE management. Forty-seven percent of respondents felt their training program provided adequate education and exposure to C1-INH-HAE. Over the last 5 years, 45% felt residents were exposed to 1 to 5 cases of C1-INH-HAE. Sixty-seven percent of residents were trained in the management of C1-INH-HAE through in-person lectures. Seventy-one percent of programs had no formal assessment of resident competency in C1-INH-HAE management. CONCLUSION: This study is the first to offer insight into C1-INH-HAE education and management principles in otolaryngology training programs. Surveyed program directors believe residents need a strong knowledge base in the management of C1-INH-HAE but less than half feel their trainees acquire the necessary exposure to this emergent disease process. Future research efforts in this area should aim to determine optimal educational activities as well as how to best incorporate this into otolaryngology residency curricula.

Epidemiology of angioedema without wheals in an allergy and immunology center.

We describe the diagnostic epidemiology, the clinical course, the family history and the response to treatment of patients with angioedema without wheals (AWW) at an Allergy and Immunology Clinical Center. We reviewed the case records of all patients at our office from January 1997 to April 2013. We recorded sex, age, age at onset of symptoms, family history of angioedema, number of visits to the office, type of angioedema, and response to treatment from those patients with angioedema without wheals. We classified angioedema according to its pathophysiology. We also describe those patients with angioedema mimics. From a total of 17,823 new patients, 303 had a presumptive diagnosis of angioedema without wheals. Twenty-three patients had an angioedema mimic. Forty percent were male and 60% were female. Average age at first visit was 40.6. Average number of visits was 2.4. Fifty-seven patients referred a family history. We attributed idiopathic angioedema to 55.7% of patients, 24.3% were drug related, 15.7% were due to C1 inhibitor deficiency, 2.1% were drug related+idiopathic angioedema, 1.4% were type III and 0.7% had exercise-induced angioedema. Ninety six percent of 53 evaluable idiopathic angioedema patients referred a benefit with anti-histamine therapy. AWW was a rare cause of consultation. Most of our patients had anti H1 responsive idiopathic angioedema and none had allergic angioedema. Women cases prevailed over men's. Family history and average age of onset of symptoms were different among the different types of angioedema.

Epidemiology of angioedema without wheals in an allergy and immunology center

We describe the diagnostic epidemiology, the clinical course, the family history and the response to treatment of patients with angioedema without wheals (AWW) at an Allergy and Immunology Clinical Center. We reviewed the case records of all patients at our office from January 1997 to April 2013. We recorded sex, age, age at onset of symptoms, family history of angioedema, number of visits to the office, type of angioedema, and response to treatment from those patients with angioedema without wheals. We classified angioedema according to its pathophysiology. We also describe those patients with angioedema mimics. From a total of 17 823 new patients, 303 had a presumptive diagnosis of angioedema without wheals. Twenty-three patients had an angioedema mimic. Forty percent were male and 60% were female. Average age at first visit was 40.6. Average number of visits was 2.4. Fifty-seven patients referred a family history. We attributed idiopathic angioedema to 55.7% of patients, 24.3% were drug related, 15.7% were due to C1 inhibitor deficiency, 2.1% were drug related + idiopathic angioedema, 1.4% were type III and 0.7% had exercise-induced angioedema. Ninety six percent of 53 evaluable idiopathic angioedema patients referred a benefit with anti-histamine therapy. AWW was a rare cause of consultation. Most of our patients had anti H1 responsive idiopathic angioedema and none had allergic angioedema. Women cases prevailed over men´s. Family history and average age of onset of symptoms were different among the different types of angioedema.

Describimos la epidemiología, historia clínica, antecedentes familiares y respuesta al tratamiento de los pacientes consultando por angioedema sin urticaria en nuestra clínica especializada en Alergia e Inmunología. Revisamos retrospectivamente todas las historias clínicas de nuestro consultorio entre enero de 1997 y abril de 2013. Seleccionamos aquellos pacientes que habían consultado por angioedema sin urticaria y registramos el sexo, edad, edad de comienzo de síntomas, antecedentes familiares de angioedema, número de consultas, tipo de angioedema y respuesta al tratamiento. Clasificamos el angioedema de acuerdo a su fisiopatología. Describimos también los diagnósticos diferenciales que encontramos. De un total de 17 823 pacientes, 303 consultaron por angioedema sin ronchas. Veintitrés presentaban un diagnóstico alternativo. El 40% eran hombres y el 60% mujeres. La edad promedio de la primera visita fue 40.6 años. El promedio de consultas fue 2.4. Cincuenta y siete refirieron antecedentes familiares. El 55.7% fue clasificado como angioedema idiopático, el 24.3% secundario a drogas, el 15.7% secundario a deficiencia del inhibidor C1, 2.1% por drogas + idiopático, 1.4% angioedema tipo III y 0.71% asociado al ejercicio. Noventa y seis por ciento de 53 pacientes evaluables con angioedema idiopático se beneficiaron con antihistamínicos. El angioedema sin urticaria fue una causa rara de consultas. Las mujeres prevalecieron sobre los hombres. Los antecedentes familiares y la edad de comienzo de síntomas variaron de acuerdo al tipo de angioedema.

Hereditary angioedema: first report of the Brazilian registry and challenges.

BACKGROUND: Hereditary Angio-oedema (HAE) is a serious medical condition caused by a rare autosomal dominant genetic disorder, in which C1 inhibitor (C1-INH) function is reduced. There is no organized information on the HAE patient population in Brazil. OBJECTIVE: The Brazilian Registry was established to disseminate diagnostic access, and to better understand the main features of the disease in our country and its clinical impact. METHODS: A questionnaire was prepared and sent to specialists. The completed questionnaires were forwarded to the coordinating site and then entered into the Registry. Samples from patients with an unconfirmed diagnosis were tested for C1 inhibitor and C4 levels. RESULTS: From 2006 to 2010, 210 patients (133 females; mean age, 30 ±17 years) were included. The median age of onset of symptoms and age at diagnosis were 6.5 and 21 years, respectively; 80.9% of the patients had subcutaneous oedema, 54% gastrointestinal and 35.7% respiratory symptoms (21% had laryngeal oedema). Laparotomy due to the disease was performed in 6.2% of the patients. The majority of patients had Type I HAE of moderate severity. Twenty-seven per cent did not receive treatment; 53% were treated with danazol alone. CONCLUSION: A paucity of patients with Type II HAE and a high frequency of laparotomy were observed, highlighting the need for better diagnosis in Brazil. HAE related educational activities, improved diagnosis and access to available therapy are needed in Brazil.