Familial Mediterranean Fever

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Acronym:
FMF

SAID group:
Pyrin

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]

Search Keywords:
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Photo credit:

Lachmann, H. J., & Hawkins, P. N. (2009). Developments in the scientific and clinical understanding of autoinflammatory disorders. Arthritis Res Ther, 11(1), 212

Resources:

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).

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