Causative & risk factors
Familial Mediterranean fever is an inherited condition caused by a genetic mutation. The gene mutation occurs in the MEFV gene.
It is an autosomal recessive condition; hence one must inherit the genetic defect from both parents to develop this disorder.
Clinical presentation
Familial Mediterranean fever usually causes acute attacks with periods of remissions. Each attack lasts one to three days.
The patient develops a fever along with other symptoms arising as a result of inflammation in various body parts. These symptoms may include pain in the abdomen, chest pain, inflamed joints, myalgia etc. Skin rash may be present on the legs. There may be changes in the bowel habits, leading to constipation followed by diarrhea. The scrotal area in men may become painfully swollen.
These acute attacks are followed by varying periods of remission.
Between attacks, you’ll likely feel normal. Symptom-free periods may be as short as a week or as long as months.
Untreated familial Mediterranean fever can lead to complications like amyloidosis, nephrotic syndrome and infertility.
Investigations
The family history of the patient is elicited and a physical examination is performed.
Several blood tests are performed to detect inflammatory markers. Genetic testing may be done to check the mutation on MEFV gene.
Treatment
Familial Mediterranean fever is an incurable condition. Treatment is aimed at reducing signs and symptoms and preventing acute attacks.
Ant-inflammatory medications are prescribed to the patients.
