Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- aminotransferases séricas elevadas
- história de hepatite
- insuficiência hepática aguda
- anormalidades comportamentais
- presença de anéis de Kayser-Fleischer
- tremor
- disartria
- distonia
- falta de coordenação
- caligrafia ruim ou pequena
Otros factores de diagnóstico
- comprometimento cognitivo
- depressão
- alteração de personalidade
- disdiadococinesia
- movimentos extraoculares anormais
- sensibilidade, força e reflexos musculares normais
- história de hemorragia digestiva
- icterícia
- sensibilidade no fígado
- aranhas vasculares
- ginecomastia
- ascite
- edema periférico
- hematomas
- encefalopatia
- disfagia
Factores de riesgo
- mutação do gene ATP7B
- história familiar de doença de Wilson
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- TFHs
- cobre urinário de 24 horas
- exame com lâmpada de fenda
- ceruloplasmina sérica
Pruebas diagnósticas que deben considerarse
- Hemograma completo
- biópsia hepática
- ressonância nuclear magnética (RNM) cranioencefálica
- concentração de cobre não ligado à ceruloplasmina (NCC)
- Teste de DNA para mutações do ATP7B
Pruebas emergentes
- medição direta do peptídeo de ATP7B
Algoritmo de tratamiento
insuficiência hepática, grave (escore de Nazer ≥10 ou Novo Índice de Wilson ≥11)
insuficiência hepática leve a moderada (escore de Nazer ≤9 ou Novo Índice de Wilson ≤10)
sintomático (doença neurológica ou doença hepática sem insuficiência hepática)
assintomático
Colaboradores
Autores
Michael L. Schilsky, MD, FAASLD
Professor of Medicine and Surgery
Divisions of Digestive Diseases and Transplant and Immunology
Yale School of Medicine
New Haven
CT
Divulgaciones
MS is an author of multiple references in this topic.
Uyen Kim To, MD
Assistant Professor of Medicine
Division of Digestive Diseases
Yale School of Medicine
New Haven
CT
Divulgaciones
UKT declares that she has no competing interests.
Agradecimientos
Professor Michael Schilsky and Dr Uyen Kim To would like to gratefully acknowledge Professor George Brewer, a previous contributor to this topic.
Divulgaciones
GB is an author of several references cited in this topic.
Revisores por pares
Jeff Bronstein, MD, PhD
Director of Movement Disorders
David Geffen School of Medicine
University of California, Los Angeles
Los Angeles
CA
Divulgaciones
JB has received grants from and consulted for Alexion and Ultragenix. JB is an author of a reference cited in this topic.
Giacomo C. Sturniolo, MD
Professor of Gastroenterology
Department of Surgical and Gastroenterological Sciences
University of Padua
Padova
Italy
Divulgaciones
GCS declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Referencias
Artículos principales
Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 Apr 1;77(4):1428-55. Texto completo Resumen
Shribman S, Marjot T, Sharif A, et al; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-75. Resumen
Socha P, Janczyk W, Dhawan A, et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):334-44.Texto completo Resumen
European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson's disease. J Hepatol. 2012 Mar;56(3):671-85.Texto completo Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Hepatite B
- Hepatite C
- Hemocromatose
Más DiferencialesGuías de práctica clínica
- ACR Appropriateness Criteria®: abnormal liver function tests
- Multidisciplinary approach to the diagnosis and management of Wilson disease
Más Guías de práctica clínicaFolletos para el paciente
Hepatite C: o que é?
Hepatite C: quais tratamentos funcionam?
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