What does the MEFV gene do?

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin’s function is not fully understood, it likely assists in keeping the inflammation process under control.

What are the mutations in the MEFV gene in FMF?

Mutations have been found especially in exons 2, 3, 5 and 10 of the MEFV gene. The MEFV online database infevers shows more than 377 alleles defined as mutations and polymorphisms [13]. The most common mutations are M694V, M680I, V726A, M694I in exon 10 and E148Q, E148V in exon 2.

Where is the MEFV gene?

The MEFV gene is located on the short (p) arm of chromosome 16 at position 13.3, from base pair 3,292,027 to 3,306,626.

What type of mutation is FMF?

FMF is caused by mutations of the MEditerranean FeVer (MEFV) gene and is basically inherited as an autosomal recessive trait. Some cases of dominant inheritance have been described. FMF is classified as an autoinflammatory syndrome.

What does FMF pain feel like?

Abdominal pain. Chest pain, which can make it hard to breathe deeply. Painful, swollen joints, usually in the knees, ankles and hips. A red rash on your legs, especially below your knees.

Does everyone have MEFV gene?

Research shows that about one-third of people with familial Mediterranean fever have a single MEFV gene variant, though most experts believe there is a second variant somewhere else in the gene that has not been detected by genetic testing.

Which cytokine is the main pathogenic driver in periodic fever syndromes such as familial Mediterranean fever?

Elevated IL-1β secretion has been described from monocytes and neutrophils derived from FMF patients and has been identified as the main cytokine driving disease pathology in an FMF mouse model (9–11).

How is FMF treated?

Initial treatment of FMF is with colchicine. Colchicine — Colchicine is primarily effective as a prophylactic treatment for the FMF attacks. It is recommended in all patients regardless of the frequency and intensity of attacks.