Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- periodic fever
- abdominal pain
- altered bowel habit
- acute joint pain/swelling
- response to colchicine
- erysipelas-like skin lesions
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
Fatores de risco
- 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
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- CBC
- erythrocyte sedimentation rate
- CRP
- serum fibrinogen
- serum amyloid A
- LFTs
- urine analysis
Investigações a serem consideradas
- LDH
- chest x-ray
- joint x-ray
- abdominal CT
- chest CT
- echocardiogram
- joint MRI
- genetic testing
Algoritmo de tratamento
acute attack
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
Disclosures
IT declares that she has no competing interests.
Differentials
- Acute sarcoidosis
- Rheumatoid arthritis
- Vasculitis
More DifferentialsGuidelines
- EULAR recommendations for the management of familial Mediterranean fever
- Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
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