Familial Mediterranean Fever

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Acronym:
FMF

SAID group:
Pyrin-associated Autoinflammatory Diseases (PAAD)

Gene:
MEFV

Inheritance:
Autosomal recessive in the majority of patients. Some cases have gene-dosage-dependent autosomal dominant inheritance. [10]

Ethnicity:
Turk, Armenian, Arab, Sephardic Jew, Italian. [1] FMF is the most common inherited periodic fever syndrome.

Frequency:
In specific ethnic groups, the carrier frequency of MEFV variants is up to 1:5 people. [1]

Timing of symptoms:
12-72 hours. [1] [9] 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. [9] Adult-onset is uncommon, but can occur.

Skin cutaneous:
Erysipeloid (erysipelas-like) erythema on the ankle–foot–below knee region that lasts 2-3 days during flares of symptoms. [1]

Neurologic:
Fevers. Acute aseptic meningitis is rare and can occur during flares, but is never chronic. [1] Other neurological involvement is very rarely seen in FMF.

Auditory:
Uncommon–not believed to be caused by a FMF disorder. [1]

Ophthalamic:
Very rare to uncommon. [1]

Cardiopulmonary:
45% have pleuritis, painful respiration with flares. Some with pericarditis. [1]

Abdominal:
Sterile peritonitis, pain, and/or constipation with flares. Splenomegaly. [1] Some cases of inflammation causing appendicitis symptoms, but the appendix is inflamed, not infected.

Lymphatic:
Splenomegaly is common. Some have lymphadenopathy. [1]

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. [1]

Vasculitis:
Henoch-Schönlein purpura (HSP), polyarteritis nodosa (PAN). [1]

Amyloidosis:
Secondary Amyloidosis is common. >50% in untreated patients; it depends on genotype. [9]

Abnormal labs:
High: ESR, CRP, SAA between flares. Fibrinogen, leukocytosis present with flares. [1] M694V and some with V726A mutations have higher risk for elevated IgD, and higher risk of more notable FMF symptoms, especially arthritis. [127] Elevated serum IgD levels 10% to 13% of patients with FMF (and TRAPS) [128]

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