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Doença de Wilson

Última revisión: 20 Aug 2025
Última actualización: 03 Jan 2025

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
Todos los datos

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
Todos los datos

Factores de riesgo

  • mutação do gene ATP7B
  • história familiar de doença de Wilson
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • TFHs
  • cobre urinário de 24 horas
  • exame com lâmpada de fenda
  • ceruloplasmina sérica
Todos los datos

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
Todos los datos

Pruebas emergentes

  • medição direta do peptídeo de ATP7B

Algoritmo de tratamiento

Agudo

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)

En curso

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

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

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.
  • Doença de Wilson images
  • Diferenciales

    • Hepatite B
    • Hepatite C
    • Hemocromatose
    Más Diferenciales
  • Guías de práctica clínica

    • ACR Appropriateness Criteria®: abnormal liver function tests
    • Multidisciplinary approach to the diagnosis and management of Wilson disease
    Más Guías de práctica clínica
  • Folletos para el paciente

    Hepatite C: o que é?

    Hepatite C: quais tratamentos funcionam?

    Más Folletos para el paciente
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