familial Mediterranean fever

Familial Mediterranean fever is an autoinflammatory condition characterized by recurring episodes of fever and serosal inflammation that lead to pain in the abdomen, chest, joints, and muscles. It is caused by pathogenic variants in the MEFV gene, which affect the regulation of the inflammatory response. The condition is considered relatively common among rare diseases, affecting approximately 1 to 5 in 10,000 people. Although detailed information on age of onset and sex predilection is not specified, the genetic basis is well recognized and guides diagnostic workup.

Patients with familial Mediterranean fever typically experience short, recurrent episodes of fever accompanied by significant pain. Gastrointestinal symptoms such as abdominal pain, nausea and vomiting, diarrhea, and poor appetite are common, while musculoskeletal complaints including myalgia, arthralgia, and arthritis are frequently reported. Some individuals may also experience chest pain due to pleuritis and skin changes such as erythema or erysipelas. In addition, a subset of patients can have neurological features such as seizures, irritability, and sleep disturbances. Not all individuals experience all features, and severity varies considerably.

Familial Mediterranean fever is linked to changes in the MEFV gene. The protein product of MEFV, known as pyrin, plays a critical role in controlling inflammation. Disruption of pyrin function leads to uncontrolled inflammatory responses that trigger the recurrent episodes of fever and pain. The available data does not provide specific details on the inheritance pattern, so the precise familial transmission is not specified in this report. Genetic counseling is recommended to help families understand the genetic aspects of the condition.

Currently, management of familial Mediterranean fever focuses on supportive care and symptom management during inflammatory episodes. Since there are no approved treatments specifically for this condition, treatment is tailored to the individual and typically involves a multidisciplinary team. Regular surveillance is an essential part of long-term care, as ongoing monitoring helps detect potential complications early. Patients are encouraged to work with healthcare professionals, and genetic counseling is recommended to better understand treatment options and the genetic basis of the condition.

The outlook for familial Mediterranean fever varies widely between individuals, with many experiencing recurrent episodes interspersed with periods of remission. With current standards of care, most individuals manage their symptoms effectively and maintain a good quality of life, although outcomes depend on the severity of symptoms and timely access to specialized care. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with a genetic counselor or specialist familiar with this condition for ongoing guidance and support.

Familial Mediterranean fever is an active research area with numerous ongoing clinical trials exploring new treatment approaches. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team to learn more about emerging therapies.