Familial Mediterranean Fever
Pyrin-associated Autoinflammatory Diseases (PAAD)
Autosomal recessive in the majority of patients. Some cases have gene-dosage-dependent autosomal dominant inheritance. 
Turk, Armenian, Arab, Sephardic Jew, Italian.  FMF is the most common inherited periodic fever syndrome.
In specific ethnic groups, the carrier frequency of MEFV variants is up to 1:5 people. 
Timing of symptoms:
12-72 hours.   Recurrent fever and flares can occur weekly, or only a few times a year.
Age of onset:
Infancy, to under 20 years of age for the onset of the first symptoms.  Adult-onset is uncommon, but can occur.
Erysipeloid (erysipelas-like) erythema on the ankle–foot–below knee region that lasts 2-3 days during flares of symptoms. 
Fevers. Acute aseptic meningitis is rare and can occur during flares, but is never chronic.  Other neurological involvement is very rarely seen in FMF.
Uncommon–not believed to be caused by a FMF disorder. 
Very rare to uncommon. 
45% have pleuritis, painful respiration with flares. Some with pericarditis. 
Sterile peritonitis, pain, and/or constipation with flares. Splenomegaly.  Some cases of inflammation causing appendicitis symptoms, but the appendix is inflamed, not infected.
Splenomegaly is common. Some have lymphadenopathy. 
Joints bones muscles cartilage:
Mono or polyarthritis, oligoarthritis and clubbing are common. Ankle arthralgias are common. Severe arthritis of the hip or ankle is rare. 
Henoch-Schönlein purpura (HSP), polyarteritis nodosa (PAN). 
Secondary Amyloidosis is common. >50% in untreated patients; it depends on genotype. 
High: ESR, CRP, SAA between flares. Fibrinogen, leukocytosis present with flares.  M694V and some with V726A mutations have higher risk for elevated IgD, and higher risk of more notable FMF symptoms, especially arthritis.  Elevated serum IgD levels 10% to 13% of patients with FMF (and TRAPS) 
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Lachmann, H. J., & Hawkins, P. N. (2009). Developments in the scientific and clinical understanding of autoinflammatory disorders. Arthritis Res Ther, 11(1), 212
This lecture by Dr Anna Simon, a leading autoinflammatory expert was given on June 23, 2017 at The Garvan Institute Autoinflammatory Diseases Symposium, and covers the diagnosis and treatment of FMF, and other autoinflammatory diseases:
This lecture by Dr Daniel Kastner, a leading expert on autoinflammatory diseases who discovered the gene for FMF, titled "Adventures in the Genomics of Inflammation" from 2011 also covers FMF.
NIH-WRNMMC 2nd Symposium on Autoinflammatory & Immunedysregulatory Diseases (co-sponsored by the Autoinflammatory Alliance)
Full video archives from the symposium
EULAR Recommendations for the the diagnosis, care and treatment of Familial Mediterranean Fever click here
Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
Our Autoinflammatory Alliance website FMF page
A collection of FMF research articles that are helpful on a variety of topics is on the Autoinflammatory Alliance saidsupport.org blog on this page.
Find periodic fever syndrome panels, which test for FMF and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR)
Updated May 2020 by Karen Durrant RN, BSN