Genetic diseases: Familial Mediterranean Fever

Definition

In today's post on genetic diseases, we'll talk about familial Mediterranean fever. It's a disorder A genetic autoinflammatory disease that causes persistent fever and painful inflammation in the abdomen, lungs, and joints. It is called Mediterranean because the disease is more common among Arabs, Turks, Jews, and people living in the Mediterranean region in general.

Causes

Familial Mediterranean fever is caused by a mutation in the MEFV gene, which regulates inflammation through a protein called pyrin. If it doesn't function properly, it can cause fever and inflammation and is passed from parents to children.

Genetics of the disease

Currently, 218 mutations have been described in the gene MEFV , on chromosome 16, encodes the protein pyrin, which is responsible for the disease's phenotypes. The disease usually follows an autosomal recessive pattern, appearing in people who received two copies of the altered gene (from both parents), although in some rare cases it can be dominant, meaning the disease can occur with only one mutated gene.

Symptoms

The disease causes repeated episodes of fever and inflammation of the abdomen, lungs, and joints. Symptoms usually appear during childhood, and the so-called "attacks or flares" typically last one to three days and recur every three to five weeks.

Diagnosis

Diagnosis can be predicted by studying the MEFV gene, and it is currently a test for patients with suspected familial Mediterranean fever. It is also very helpful for parents with the MEFV mutation, as it can help them understand the risk of transmission to their children. www.genotica.com We have tests for the study of this disease and related mutations, such as NGS-SEQ+CNVs – AUTOINFLAMMATORY DISEASE WITH RECURRING FEVER from Lorgen.

Treatment

It's a disorder with no cure, but treatment with colchicine, a lifelong oral medication, can relieve symptoms. If colchicine is taken regularly, the vast majority of children with FMF can lead normal lives.