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Familial Mediterranean fever

Última revisão: 10 Aug 2025
Última atualização: 31 Aug 2022

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presence of risk factors
  • periodic fever
  • abdominal pain
  • altered bowel habit
  • acute joint pain/swelling
  • response to colchicine
  • erysipelas-like skin lesions
Detalhes completos

Outros fatores diagnósticos

  • pleuritic chest pain
  • acute myalgia
  • hepatosplenomegaly
  • history of appendectomy
  • abdominal scars
  • chronic joint pain
  • pleural rub
  • chronic myalgia/fibromyalgia
  • headache
  • neck stiffness
  • photophobia
  • acute scrotal pain + swelling
  • visual disturbances
Detalhes completos

Fatores de risco

  • Mediterranean ancestry
  • age <20 years
  • male sex
  • positive family history
  • genetic mutation in MEFV gene
  • country of origin: Armenia, Turkey, or the Mediterranean basin
  • psychological stress
  • viral illness
  • physical exertion
  • extreme exhaustion
  • use of vasoconstrictor sympathomimetics
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • FBC
  • erythrocyte sedimentation rate
  • CRP
  • serum fibrinogen
  • serum amyloid A
  • LFTs
  • urine analysis
Detalhes completos

Investigações a serem consideradas

  • LDH
  • chest x-ray
  • joint x-ray
  • abdominal CT
  • chest CT
  • echocardiogram
  • joint MRI
  • genetic testing
Detalhes completos

Algoritmo de tratamento

AGUDA

acute attack

CONTÍNUA

confirmed FMF

Colaboradores

Autores

Erkan Demirkaya, MD, MSc, FRCPC

Professor of Paediatrics

Schulich School of Medicine & Dentistry

Department of Paediatrics

Division of Paediatric Rheumatology

University of Western Ontario

London

ON

Canada

Declarações

ED is an author of a number of references cited in this topic.

Agradecimentos

Dr Erkan Demirkaya would like to gratefully acknowledge Dr Véronique Hentgen and Dr Ghaith Mitri, the previous contributors to this topic.

Declarações

VH has been reimbursed by Novartis Pharmaceuticals (the manufacturer of canakinumab) for attending several conferences, has received consulting fees from Novartis Pharmaceuticals, and is an author of references cited in this topic. GM declares that he has no competing interests.

Revisores

M. Eric Gershwin, MD

Distinguished Professor of Medicine

The Jack and Donald Chia Professor of Medicine

Chief

Division of Rheumatology, Allergy and Clinical Immunology

Genome and Biomedical Sciences Facility

University of California at Davis

Davis

CA

Declarações

MEG declares that he has no competing interests.

Isabelle Touitou, MD, PhD

Medical Unit for Autoinflammatory Diseases

Genetic Laboratory

Arnaud de Villeneuve Hospital

Montpellier

France

Declarações

IT declares that she 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.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019 Aug;78(8):1025-32.Texto completo  Resumo

Giancane G, Ter Haar NM, Wulffraat N, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015 Apr;74(4):635-41. Resumo

Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016 Apr;75(4):644-51. Resumo

Kallinich T, Haffner D, Niehues T, et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics. 2007 Feb;119(2):e474-83. Resumo

Hentgen V, Grateau G, Kone-Paut I, et al. Evidence-based recommendations for the practical management of familial Mediterranean fever. Semin Arthritis Rheum. 2013 Dec;43(3):387-91. Resumo

Artigos de referência

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    • EULAR recommendations for the management of familial Mediterranean fever
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