Familial Mediterranean Fever | Most common mutations

Home Familial Mediterranean Fever | Most common mutations

Familial Mediterranean fever (FMF) is an inherited condition which causes episodic attacks of fever and painful inflammation of the abdomen, chest, and joints. FMF patiens may also develop a rash during these attacks. The episodes last for 1 to 3 days and can vary in severity. Between episodes the patient typically feels normal. These symptom-free periods can last for days or even years.

In 80-90% of people affected by FMF, the first episode occurs by the age of 20. Less commonly, symptoms begin later in life. Children who have FMF may experience periodic fever as their only symptom.

FMF is caused by mutations in MEFV gene and is inherited in an autosomal recessive pattern.

Method

Twelve common mutations in MEFV gene are detected using multiplex PCR with biotinylated primers followed by reverse hybridisation. Using this technique the following mutations are detected: E148Q, P369S, F479L, M680I (G >C), M680I (G >A), I692 del, M694V, M694I, K695R, V726A, A744S, R761H.

Sample type: Peripheral blood in EDTA

Time to result: 2 weeks