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HEREDITARY MONOGENIC DISEASES

           

Familial mediterranean fever

Familial Mediterranean fever is a disorder passed down through families (inherited), which involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.

SIGNS AND SYMPTOMS

The symptoms usually begin between the ages of 5 and 15. Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs, along with high fevers that usually peak in 12 to 24 hours. Attacks may vary in severity of symptoms and can last between 6 hours and 4 days. Patients are usually symptom-free between attacks.

Symptoms may include repeated episodes of:

  • Abdominal pain
  • Chest pain that is sharp and gets worse when taking a breath
  • Fever or alternating chills and fever
  • Joint pain
  • Skin sores (lesions) that are red and swollen and range from 5 – 20 cm in diameter

RISK FACTORS

The condition usually affects people of Mediterranean ancestry, especially non-Ashkenazi (Sephardic) Jews, Armenians, and Arabs. People from other ethnic groups may also be affected.

This disease is very rare. Risk factors include a family history of familial Mediterranean fever and Mediterranean ancestry. Familial Mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation. The pattern is autosomal recessive which means that there have to be mutations in the two copies of the gene for the disorder to develop. The presence of a mutation in only one gene will not produce symptoms, but these persons can be carriers of the disorder. If the parents are carriers of the mutation, the children have more probability of developing the disorder. In all cases, the entire family should be evaluated.

PREVENTION

There are no preventative measures as such for the disorder. However, you may be able to relieve signs and symptoms of familial Mediterranean fever — or even prevent them altogether — by sticking to a treatment plan prescribed by the doctor.

GENE OR REGION STUDIED


  • MEFV