The spectrum of clinical findings in Familial Mediterranean Fever (FMF) varies depending on the number and type of mutated genes inheriteid.
Gene affected: MEFV
Location: short arm of chromosme 16 (16p13.3)
Product: pyrin (marenostrin)
Number of mutations described: > 150
Inheritance: typically autosomal recessive
Clinical manifestations tend to be seen in those who are homozygous or double heterozygous. A patient who is heterozygous for one gene may have mild or subclinical disease.
Phenotype
Features
1
recurrent febrile episodes, with renal failure secondary to amyloidosis as a complication
2
present with amyloidosis at an early age, may be otherwise asymptomatic
Phenotype 1 patients who are homozygous for the M694V mutation may have a severe disease with early age of onset, frequent attacks and poor response to colchicines.
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