FAMILIAL MEDITERRANEAN FEVER (MEFV HOTSPOT SEQUENCING)

Familial Mediterranean Fever (FMF), also known as the Armenian disease is a hereditary inflammatory disorder that affects people originating from around the Mediterranean Sea area.

Familial Mediterranean Fever is an inherited condition and symptoms include episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash.

The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 6 to 72 hours and can vary in severity.

The Familial Mediterranean Fever gene is located on the short arm of chromosome 16 (16p13).

The disorder inherits in an autosomal recessive fashion. Therefore, two asymptomatic carrier parents have a 25% chance of a child with the disorder, a 50% chance of a child who is an asymptomatic carrier and a 25% chance of a child who does not carry the disorder.

Familial Mediterranean Fever patients who have children with a carrier or another Familial Mediterranean Fever patient have a 50% and 100% chance, respectively, of having a child with Familial Mediterranean Fever.