Summary
Definition
History and exam
Key diagnostic factors
- periodic fever
- abdominal pain
- altered bowel habit
- acute joint pain/swelling
- response to colchicine
- erysipelas-like skin lesions
Other diagnostic factors
- 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
Risk factors
- Mediterranean ancestry
- age <20 years old
- 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
Diagnostic investigations
1st investigations to order
- CBC
- erythrocyte sedimentation rate
- CRP
- serum fibrinogen
- serum amyloid A
- LFTs
- urine analysis
Investigations to consider
- LDH
- chest x-ray
- joint x-ray
- abdominal CT
- chest CT
- echocardiogram
- joint MRI
- genetic testing
Treatment algorithm
acute attack
confirmed FMF
Contributors
Authors
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
Disclosures
ED is an author of a number of references cited in this topic.
Acknowledgements
Dr Erkan Demirkaya would like to gratefully acknowledge Dr Véronique Hentgen and Dr Ghaith Mitri, the previous contributors to this topic.
Disclosures
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.
Peer reviewers
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
Disclosures
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
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
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Acute sarcoidosis
- Rheumatoid arthritis
- Vasculitis
Mais Diagnósticos diferenciaisDiretrizes
- EULAR recommendations for the management of familial Mediterranean fever
- Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
Mais DiretrizesConectar-se ou assinar para acessar todo o BMJ Best Practice
O uso deste conteúdo está sujeito ao nosso aviso legal