RESUMO
INTRODUCTION: Hereditary transthyretin (hATTR) amyloidosis is a progressive, degenerative disease, with peripheral neuropathy, cardiomyopathy, and other clinical manifestations. In this study we examine the impact of hATTR amyloidosis on quality of life (QOL). METHODS: Neuropathy-specific QOL, measured with the Norfolk QOL-Diabetic Neuropathy questionnaire, was compared between patients with hATTR amyloidosis and patients with type 2 diabetes, whereas generic QOL, measured with the 36-item Short Form Health Survey version 2 (SF-36v2), was compared between patients with hATTR amyloidosis, the general population, and patients with chronic diseases. RESULTS: Neuropathy-specific QOL for patients with hATTR amyloidosis was nearly equivalent to that of patients with type 2 diabetes with diabetic neuropathy accompanied by a history of ulceration, gangrene, or amputation. Generic QOL was worse than that seen in the general population, with physical functioning worse than that for patients with multiple sclerosis and congestive heart failure. DISCUSSION: Patients with hATTR amyloidosis show significant burden on QOL, particularly in physical functioning. Muscle Nerve 60: 169-175, 2019.
Assuntos
Neuropatias Amiloides Familiares/fisiopatologia , Qualidade de Vida , Neuropatias Amiloides Familiares/psicologia , Estudos de Casos e Controles , Efeitos Psicossociais da Doença , Diabetes Mellitus Tipo 2/fisiopatologia , Diabetes Mellitus Tipo 2/psicologia , Neuropatias Diabéticas/fisiopatologia , Neuropatias Diabéticas/psicologia , Feminino , Insuficiência Cardíaca/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/fisiopatologia , Esclerose Múltipla/psicologiaRESUMO
Transthyretin is a transport protein for thyroxine and retinol-binding protein, which is mainly produced in the liver. Hereditary transthyretin-related amyloidosis (ATTR) is caused by one of more than 120 point mutations in the transthyretin gene and inherited as an autosomal dominant disorder. The mutations cause a reduction in the stability of the tetrameric structure and dissociation into dimers and monomers as the rate-limiting step in amyloid formation is promoted. Clinical symptoms are related to the specific mutation, the age of onset, the ethnic background and environmental factors. The nerves, heart, eyes and intestines are paticularly affected. In general, two different age peaks are observed. An accumulation occurs at the age of 25-35 years with predominantly neurological symptoms. The second peak occurs between the ages of 55 and 65 years and is commonly associated with cardiac involvement with or without polyneuropathy. Characteristic for the nerve involvement are the symmetrical small fiber polyneuropathy and an autonomous polyneuropathy. The typical picture of cardiac involvement is biventricular hypertrophy with diastolic dysfunction finally resulting in restrictive cardiomyopathy. In addition to the symptomatic treatment for the alleviation of individual organ disorders, for many years liver transplantation was the only causal therapy of ATTR amyloidosis. Since 2011 tafamidis, a highly selective transthyretin stabilizer, has been the first drug approved for treatment of ATTR resulting in reduction of the progression of polyneuropathic symptoms. Other therapeutic approaches to reduce amyloid formation (patisiran and inotersen) effectively reduce transthyretin blood levels, leading to a reduction in polyneuropathy and improved quality of life. The approval is expected in 2018.
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Neuropatias Amiloides Familiares/tratamento farmacológico , Benzoxazóis/uso terapêutico , Polineuropatias/tratamento farmacológico , Pré-Albumina/metabolismo , Idoso , Amiloide/metabolismo , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/psicologia , Cardiomiopatias , Aprovação de Drogas , Humanos , Pessoa de Meia-Idade , Mutação , Polineuropatias/genética , Pré-Albumina/genética , Qualidade de VidaRESUMO
BACKGROUND: Chronic physical illness has been associated with emotional distress. Chronic diseases may change usual family patterns with economic, social and family losses. Hereditary ATTR V30M amyloidosis is a rare, fatal inherited systemic amyloidosis, with chronic evolution and beginning in adulthood. AIMS AND METHODS: To evaluate psychopathological dimensions and how they correlated with disease-related life events, 209 symptomatic and asymptomatic carriers, participated in the study. Sociodemographic and Family and Personal History Disease questionnaires and brief symptom inventory (BSI) were applied. RESULTS: BSI indices, global severity index (GSI), positive symptom index (PSI) and positive symptom total (PST) scored higher than general population. Independent predictors for GSI >0.83 were female sex (OR = 3.46, p = .005) and being symptomatic carriers (OR = 3.03, p = .039). Independent predictors of a PST >26.99 were female sex (OR = 3.74, p = .012) symptomatic carrier (OR = 5.32, p = .025), age between 15 and 24 years at affected parent's death (OR = 5.26, p = .04). Independent predictors of a PSI >1.56 were being asymptomatic carrier (OR = 6.3, p = .036); to have children (OR = 3.19, p = .043) and have ≤14 years at parent's disease onset (OR = 6.39, p = .05). CONCLUSIONS: Results point to an important vulnerability of this population for psychological distress and psychiatric disease. Early life events related to disease, being sick and sex are associated with psychopathological distress.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Índice de Gravidade de Doença , Estresse Psicológico , Adolescente , Adulto , Idoso , Substituição de Aminoácidos , Neuropatias Amiloides Familiares/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Pré-Albumina/genética , Fatores SexuaisRESUMO
BACKGROUND: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). METHOD: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD. They were mostly women (58%) and married (67%). It was considered the cutoffs points: 4 years (middle-term) and 7 and 10 years (long-term) indicating the time after receiving the TPS results. RESULTS: women and widows (oldest) presented the highest mean values for almost all BSI dimensions and the highest values correspond to the obsessive-compulsive dimension. MJD participants presented the highest mean values. No differences were found concerning the PST test results while participants are still asymptomatic. Psychopathology was only present in symptomatic carriers. CONCLUSIONS: The onset of the disease seems to assume the trigger for psychological disturbance, regardless the time that has elapsed since the PST result communication or the individual carrier/non-carrier condition.
Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/psicologia , Doença de Huntington/diagnóstico , Doença de Huntington/psicologia , Doença de Machado-Joseph/diagnóstico , Doença de Machado-Joseph/psicologia , Adulto , Idoso , Doenças Assintomáticas/psicologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?." RESULTS: From 10 categories of answers, references to the disease, quantitative answers, references to the family, and metaphors stood out. References to the disease, references to the family, and metaphors were mentioned more often by subjects at risk for LOND than by subjects at risk for HH (control group). CONCLUSION: The disease itself and its meaning as well as sick relatives play a key role in the objective knowledge about LOND. Thus, genetic counseling protocols of subjects at risk for LOND should include questions concerning family knowledge and disease experience.
Assuntos
Neuropatias Amiloides Familiares/genética , Conhecimentos, Atitudes e Prática em Saúde , Transtornos de Início Tardio/genética , Doença de Machado-Joseph/genética , Adaptação Psicológica , Adolescente , Adulto , Idoso , Neuropatias Amiloides Familiares/psicologia , Estudos de Casos e Controles , Saúde da Família , Feminino , Aconselhamento Genético , Humanos , Transtornos de Início Tardio/psicologia , Doença de Machado-Joseph/psicologia , Masculino , Metáfora , Pessoa de Meia-Idade , Fatores de Risco , Estresse Psicológico/etiologia , Inquéritos e Questionários , Adulto JovemRESUMO
Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Família/psicologia , Promoção da Saúde , Apoio Social , Adolescente , Adulto , Idoso , Brasil , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto JovemRESUMO
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness. RESULTS: Findings highlight the influence of a discrediting social context in the enactment of stigma. FAP was described as a source of devaluation and social distance and was permeated by beliefs of contagion in the community, especially in the past. The multigenerational nature of the illness within small communities was felt as a source of rejection for courtship and of devalued reproductive worth. Decisions to have (potentially affected) children seemed to be a target of implicit negative judgment. Dealing with stigma entailed restraint in talking about FAP especially outside the family, resistance to being treated as different, and social withdrawal. Some participants referred to recent substantial improvements in their social acceptance and a reduction in the intensity of the stigmatisation to which they are subject. CONCLUSION: The pattern of stigma may have changed considerably within the past few decades, as medical information about the disease became more widespread, as new medications have been introduced and as clinical trials of other potential treatments have been established. Our findings report the social consequences of stigma towards this disease group and may help to understand how stigma is experienced in other heritable diseases.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Estigma Social , Adulto , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/genética , Benzoxazóis/uso terapêutico , Feminino , Doenças Genéticas Inatas/complicações , Doenças Genéticas Inatas/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Portugal , Pesquisa Qualitativa , Comportamento Reprodutivo/psicologia , Inquéritos e QuestionáriosRESUMO
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP. It also explores the intergenerational flow by analysing who from the older generation plays what role(s) towards whom from the younger generation. This study adopts the critical incidents technique. The sample comprises 18 participants that reported 76 critical incidents. The interviews were audio-taped and submitted for content analysis with the main findings suggesting four roles performed by the older family members towards the younger ones: modelling, encouraging, informing and supporting. The intergenerational flow takes place mostly between women, from mother to daughter, and from older affected individuals to young pre-symptomatic carriers. The older generations can be involved in the clinical practice as partners in supporting younger relatives in families with FAP. Clinical genetic services and the health-care system more broadly might want to consider these roles and the intergenerational flow of support so that this information can be used to maximise health promotion behaviours in at-risk families.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Família/psicologia , Estilo de Vida Saudável , Relação entre Gerações , Adolescente , Adulto , Idoso , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/prevenção & controle , Atitude , Feminino , Promoção da Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , PortugalRESUMO
INTRODUCTION: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP). METHODS: The relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) total score was assessed in 61 (stages 1-3) patients with TTR-FAP (V30M variant) and 16 healthy controls. Composite measures of large- and small-nerve fiber function, and modified body mass index (mBMI) were also assessed. RESULTS: Ordinal-based NIS-LL and Norfolk QOL-DN scores discriminated between disease stages (P < 0.0001 for NIS-LL and Norfolk QOL-DN). Longer disease duration correlated with worse NIS-LL and Norfolk QOL-DN. Karnofsky performance score declined progressively by disease stage. Composite measures of nerve fiber function differentiated stage 1 from stage 2 disease. The mBMI declined with advancing disease. CONCLUSIONS: NIS-LL, Norfolk QOL-DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR-FAP severity. Muscle Nerve 55: 323-332, 2017.
Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/terapia , Qualidade de Vida , Índice de Gravidade de Doença , Adolescente , Adulto , Idoso , Neuropatias Amiloides Familiares/psicologia , Análise de Variância , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Fibras Nervosas/fisiologia , Estatísticas não Paramétricas , Adulto JovemRESUMO
Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em doenças genéticas, como a paramiloidose. Este estudo qualitativo exploratório analisa o papel dos mais velhos, em famílias com paramiloidose, na promoção da saúde dos mais novos. Adotou-se a técnica dos incidentes críticos, aplicada por entrevista semiestruturada. O estudo envolve 18 participantes que relataram 76 incidentes críticos. As entrevistas foram gravadas e submetidas a análise de conteúdo. Os principais resultados sugerem os seguintes papéis dos mais velhos junto dos mais novos: modelar (comportamentos), encorajar, informar e apoiar. As gerações mais velhas podem ser envolvidas pelos profissionais de saúde como parceiras no apoio aos mais novos em famílias com paramiloidose.
Abstract: Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.
Resumen: Actualmente, los ciudadanos son agentes activos en los sistemas formales en la promoción de la salud. En la gestión de las enfermedades hereditarias, el papel de los familiares como fuente de apoyo es vital. El papel de los más viejos emerge como crucial por la larga relación con la enfermedad y con los enfermos en la familia. No obstante, este papel permanece poco explorado, en particular, en enfermedades genéticas, como la paramiloidosis. Este estudio cualitativo exploratorio analiza el papel de los más viejos, en familias con paramiloidosis, en la promoción de la salud de los más jóvenes. Se adoptó la técnica de los incidentes críticos, aplicada por entrevista semiestructurada. El estudio involucró a 18 participantes que relataron 76 incidentes críticos. Las entrevistas fueron grabadas y sometidas a un análisis de contenido. Los principales resultados sugieren los siguientes papeles de los más viejos, junto a los más jóvenes: modelar (comportamientos), animar, informar y apoyar. Las generaciones más viejas pueden estar involucradas por los profesionales de salud como agentes activos en el apoyo a los más jóvenes en familias con paramiloidosis.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Apoio Social , Família/psicologia , Neuropatias Amiloides Familiares/psicologia , Promoção da Saúde , Brasil , Pesquisa QualitativaRESUMO
Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portuguese sample. Methods: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). Results: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. Conclusion: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.
Assuntos
Humanos , Masculino , Feminino , Adulto , Idoso , Ansiedade/diagnóstico , Doença de Huntington/psicologia , Doença de Machado-Joseph/psicologia , Neuropatias Amiloides Familiares/psicologia , Doenças Assintomáticas/psicologia , Ansiedade/classificação , Ansiedade/psicologia , Portugal , Fatores de Tempo , Estudos Transversais , Valor Preditivo dos Testes , Inquéritos e Questionários , Doença de Huntington/diagnóstico , Doença de Machado-Joseph/diagnóstico , Neuropatias Amiloides Familiares/diagnóstico , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders - Huntington's disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M - in a Portuguese sample. METHODS: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). RESULTS: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. CONCLUSION: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Ansiedade/diagnóstico , Doenças Assintomáticas/psicologia , Doença de Huntington/psicologia , Doença de Machado-Joseph/psicologia , Adulto , Idoso , Neuropatias Amiloides Familiares/diagnóstico , Ansiedade/classificação , Ansiedade/psicologia , Estudos Transversais , Feminino , Humanos , Doença de Huntington/diagnóstico , Doença de Machado-Joseph/diagnóstico , Masculino , Pessoa de Meia-Idade , Portugal , Valor Preditivo dos Testes , Inquéritos e Questionários , Fatores de TempoRESUMO
After transplant, patients with familial amyloid polyneuropathy may manifest several medical and psychiatric symptoms that can be difficult to diagnose and treat. We describe 10 liver transplant candidates with familial amyloid polyneuropathy who had severe somatic signs and symptoms (nausea and vomiting) after transplant. Their physical examinations were performed by physicians from different specialties. Before transplant, the patients' evaluations did not reveal relevant medical or psychiatric symptoms. After transplant, they had severe nausea and vomiting and high scores on the Hospital Anxiety and Depression Scale. A psychopharmacological trial with a selective serotonin reuptake inhibitor plus an antiemetic drug was unsuccessful. Remission was obtained with tricyclic antidepressants and low-dose atypical antipsychotic agents. Previous researchers had concluded that the mental quality of life in patients with familial amyloid polyneuropathy was worse after receiving a liver transplant, unlike other transplant recipients. The 10 cases described in this study are a good example of comorbid physical and mental symptoms occurring after transplant in patients with familial amyloid polyneuropathy. The conclusions of this study have implications for clinical practice, showing how a careful holistic approach in the posttransplant period is relevant in these cases.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Neuropatias Amiloides Familiares/cirurgia , Transplante de Fígado/psicologia , Náusea e Vômito Pós-Operatórios/psicologia , Adulto , Antidepressivos Tricíclicos/uso terapêutico , Antieméticos/uso terapêutico , Antipsicóticos/uso terapêutico , Ansiedade/tratamento farmacológico , Ansiedade/psicologia , Depressão/tratamento farmacológico , Depressão/psicologia , Feminino , Humanos , Masculino , Náusea e Vômito Pós-Operatórios/tratamento farmacológico , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Resultado do TratamentoRESUMO
Type 1 Portuguese Familial Amyloid Polyneuropathy was first observed in 1939 and described in 1951 by Corino Andrade. FAP is a rare autosomal dominant disease caused by a mutant gene in chromosome 18, characterized by a variant transthyretin in which valine is substituted for methionine at position 30 (ATTR V30M), affecting mainly young adults. ATTR V30M positivity does not imply disease, but the disease is only present with ATTR V30M in serum. The clinical manifestations of FAP on the pelvic floor and genitourinary system are frequent at early disease onset. Phenotypic diversity can depend on modulating agents in the deposition of the mutant TTR, such as incomplete penetration and environmental influence. Functional vesicourethral disorders appear to be primarily at the bladder filling phase, namely diminished bladder sensation, and associated with a decrease in detrusor contractility during the emptying phase. Unbalanced voiding takes place in this context, with high post-void residuals, increasing the rate of co-morbidity, namely recurrent urinary tract infections and chronic renal failure.This study describes the lower urinary tract dysfunctions in ATTR V30M positive carriers, particularly during the asymptomatic period and early stages of the disease, and additionaly it describes its association with the clinical evolution of the disease. In the preliminary phase of the study, the lower urinary tract dysfunction in FAP-women may present itself as an early manifestation in asymptomatic patients. Uroflowmetry and the evaluation of post-voiding residual volume are non-invasive and low cost tests that should be done during routine initial evaluation. Reduced bladder sensation and poor detrusor contractility may be considered initial markers of FAP. The neurogenic factor (bladder afferent neurons) appears to be mechanical in nature with myogenic repercussions. This further aggravates the bladder underactivity secondary to pelvic efferent parasympathetic neuropathy and amyloid infiltration in the bladder wall. Early diagnostic and therapeutic intervention may avoid secondary end stage renal disease.
Assuntos
Neuropatias Amiloides Familiares/complicações , Sintomas do Trato Urinário Inferior/etiologia , Adulto , Substituição de Aminoácidos , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/psicologia , Biomarcadores , Progressão da Doença , Feminino , Heterozigoto , Humanos , Exame Neurológico , Pré-Albumina/genética , Qualidade de Vida , Incontinência Urinária/epidemiologia , Incontinência Urinária/etiologia , UrodinâmicaRESUMO
The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN) questionnaire is an instrument to assess QOL in diabetic polyneuropathy. The objective of this observational, cross-sectional study in 61 patients with V30M transthyretin familial amyloid polyneuropathy (TTR-FAP) and 16 healthy volunteers was to validate the Norfolk QOL-DN for assessment of QOL in TTR-FAP. Comparisons were conducted to identify the best items to discriminate disease stages and assess which individual Norfolk domains (symptoms, large fiber, small fiber, autonomic, and activities of daily living) would be most affected by disease stage. Analysis of individual items revealed a significant pattern of discrimination among disease stages (p < 0.001). Total QOL scores increased (indicating worsening) with duration of symptoms, with a steeper increase observed earlier in the course of disease. Significant correlations were observed between each Norfolk domain and other measures of neurological function. Limitations include cross-sectional study design, low patient numbers in this rare disease, and the ordinal-based character of the metric used; future areas to explore include item response theory approaches such as Rasch analysis. These results suggest the Norfolk QOL-DN is a reliable indicator of the impact of disease severity on QOL in patients with TTR-FAP.
Assuntos
Neuropatias Amiloides Familiares , Avaliação de Resultados em Cuidados de Saúde , Pré-Albumina/genética , Qualidade de Vida , Inquéritos e Questionários , Atividades Cotidianas , Adulto , Idoso , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/psicologia , Estudos de Coortes , Estudos Transversais , Progressão da Doença , Análise Fatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/fisiologia , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Estatística como AssuntoRESUMO
Tafamidis, a transthyretin (TTR) kinetic stabilizer, delayed neuropathic progression in patients with Val30Met TTR familial amyloid polyneuropathy (TTR-FAP) in an 18-month randomized controlled trial (study Fx-005). This 12-month, open-label extension study evaluated the long-term safety, tolerability, and efficacy of tafamidis 20 mg once daily in 86 patients who earlier received blinded treatment with tafamidis or placebo. Efficacy measures included the Neuropathy Impairment Score in the Lower Limbs (NIS-LL), Norfolk Quality of Life-Diabetic Neuropathy total quality of life (TQOL) score, and changes in neurologic function and nutritional status. We quantified the monthly rates of change in efficacy measures, and TTR stabilization, and monitored adverse events (AEs). Patients who continued on tafamidis had stable rates of change in NIS-LL (from 0.08 to 0.11/month; p = 0.60) and TQOL (from -0.03 to 0.25; p = 0.16). In patients switched from placebo, the monthly rate of change in NIS-LL declined (from 0.34 to 0.16/month; p = 0.01), as did TQOL score (from 0.61 to -0.16; p < 0.001). Patients treated with tafamidis for 30 months had 55.9 % greater preservation of neurologic function as measured by the NIS-LL than patients in whom tafamidis was initiated later. Plasma TTR was stabilized in 94.1 % of patients treated with tafamidis for 30 months. AEs were similar between groups; no patients discontinued because of an AE. Long-term tafamidis was well tolerated, with the reduced rate of neurologic deterioration sustained over 30 months. Tafamidis also slowed neurologic impairment in patients previously given placebo, but treatment benefits were greater when tafamidis was begun earlier.
Assuntos
Neuropatias Amiloides Familiares/tratamento farmacológico , Benzoxazóis/uso terapêutico , Pré-Albumina/metabolismo , Adulto , Idoso , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/fisiopatologia , Neuropatias Amiloides Familiares/psicologia , Progressão da Doença , Esquema de Medicação , Feminino , Seguimentos , Humanos , Cooperação Internacional , Masculino , Metionina/genética , Pessoa de Meia-Idade , Mutação/genética , Pré-Albumina/genética , Qualidade de Vida , Fatores de Tempo , Valina/genética , Adulto JovemRESUMO
This study is an investigation of the impact of familial amyloid polyneuropathy type I (FAP I, ATTR V30M) on death anxiety and symbolic immortality. Templer and Drolet's scales were administered to 524 individuals: (1) 84 relatives at risk, (2) 92 relatives not at risk for FAP I; and (3) a control group (n = 348) with no known hereditary disease in their families. At-risk relatives had, on average, a higher score for death anxiety and a lower score for symbolic immortality, than either those not-at-risk or controls. There were no significant differences in scores on either measure for those not-at-risk versus controls. Being at risk increases death anxiety and threatens the sense of symbolic immortality and psychosocial wellbeing. This may be true for other serious hereditary disorders as well. Genetic counsellors should become familiar with these concepts, feel comfortable initiating discussions about death with their patients, and be able to identify and reinforce their patients' and family members' sense of symbolic immortality.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Atitude Frente a Morte , Conscientização , HumanosRESUMO
BACKGROUND: It has been demonstrated in many studies that quality of life can be improved after liver transplantation in patients with liver disease. Nevertheless, quality of life improvement in specific groups of transplanted patients such as those with Familial Amyloid Polyneuropathy has not yet been explored. The present study aimed to compare the change in quality of life following liver transplantation between patients with Familial Amyloid Polyneuropathy (FAP) and patients with liver disease. RESULTS: Patient's mental quality of life showed an improvement in all liver disease patients, and a worsening in FAP patients, resulting in a significant difference between the two groups. Regarding physical quality of life, although a similar improvement was seen in both groups, FAP patients had significantly less improvement than the sub-group of decompensated liver disease (Child-Pugh B and C). CONCLUSION: It is concluded that liver transplantation has a less beneficial impact in FAP patient's physical quality of life, probably because they are not so much disabled by their disease at the moment of liver transplantation. The lesser improvement in mental quality of life of FAP patients may be due to their particular psychological profile and greater expectations towards transplantation.
Assuntos
Neuropatias Amiloides Familiares/psicologia , Neuropatias Amiloides Familiares/cirurgia , Hepatopatias/psicologia , Hepatopatias/cirurgia , Transplante de Fígado , Qualidade de Vida/psicologia , Adulto , Neuropatias Amiloides Familiares/fisiopatologia , Carcinoma Hepatocelular/fisiopatologia , Carcinoma Hepatocelular/psicologia , Carcinoma Hepatocelular/cirurgia , Colestase/fisiopatologia , Colestase/psicologia , Colestase/cirurgia , Feminino , Inquéritos Epidemiológicos , Humanos , Cirrose Hepática/fisiopatologia , Cirrose Hepática/psicologia , Cirrose Hepática/cirurgia , Hepatopatias/fisiopatologia , Hepatopatias Alcoólicas/fisiopatologia , Hepatopatias Alcoólicas/psicologia , Hepatopatias Alcoólicas/cirurgia , Neoplasias Hepáticas/fisiopatologia , Neoplasias Hepáticas/psicologia , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
Presymptomatic genetic testing of an untreatable disease raises clinical, ethical, legal and psychosocial questions. Investigations in specific disorders are needed to help in understanding the motivation for and the impact of genetic testing in the lives of persons at risk for these diseases. Here, we performed a longitudinal study to investigate the psychological consequences of presymptomatic genetic testing on people at risk for transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP). The aim of the present study was to provide possible guidelines for genetic counselling and psychosocial support. Impact of Event Scale Revised (IES-R), Hospital Anxiety and Depression Scale (HADS) and SF-36 questionnaires were administered to 18 asymptomatic subjects before, immediately after communication of the genetic test result and after 3, 6 and 26 months. Our findings showed evidence of anxiety, depression, avoidance of the disease, and psychological distress, especially for women, including those with a negative genetic test result ("survivor guilt"). A psychological support has to be provided before and continued at long term after presymptomatic genetic testing for TTR-FAP in people with positive result as well as in those with negative result.
Assuntos
Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/psicologia , Triagem de Portadores Genéticos/métodos , Pré-Albumina/genética , Psicologia , Atividades Cotidianas/psicologia , Adulto , Neuropatias Amiloides Familiares/diagnóstico , Transtornos de Ansiedade/genética , Transtornos de Ansiedade/psicologia , Análise Mutacional de DNA/psicologia , Análise Mutacional de DNA/normas , Transtorno Depressivo/genética , Transtorno Depressivo/psicologia , Feminino , Aconselhamento Genético/psicologia , Aconselhamento Genético/normas , Culpa , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prognóstico , Caracteres Sexuais , Distribuição por Sexo , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Psychiatric diagnoses are very common in liver transplant candidates, and such diagnoses are predictive of a poor clinical evolution and quality of life after transplantation. Also, nonadherence before the transplant is predictive of nonadherence after the transplant. METHODS: We studied the psychiatric and psychosocial profiles of 85 liver transplant candidates, comprising consecutive patients attending outpatient clinics of a liver transplantation unit at a public hospital. Interviews and questionnaires were used to measure personality traits, symptoms of anxiety and depression, social support, and adherence. These patients were broken into 3 groups: patients with familial amyloid polyneuropathy (n = 20), patients with alcoholic liver disease (n = 33), and patients with other liver diseases (n = 32). RESULTS: About 58% of patients had a current psychiatric diagnosis (24.8%, major depressive disorder, 22.3% generalized anxiety disorder, 8.3% adaptive disorder, 2.3% abuse of or dependence on substances other than alcohol). Current psychiatric diagnosis did not differ between patients with familial amyloid polyneuropathy and patients with alcoholic liver disease. Patients with alcoholic liver disease showed lower scores for 2 protective personality traits, social support and adherence to medication, than other patients. Patients with familial amyloid polyneuropathy showed higher scores for those traits. CONCLUSIONS: All patients waiting for a liver transplant should undergo psychiatric and psychological assessment. Some psychological characteristics such as personality traits and social support differ between clinical groups, so it may be useful to design different approaches for each group. Patients with alcoholic liver disease may require a special approach to improve adherence to medication.