autosomal recessive familial Mediterranean fever

Autosomal recessive familial Mediterranean fever is an inherited inflammatory disorder that primarily affects individuals through episodes of inflammatory attacks, most in the abdominal and chest areas. This condition is caused by pathogenic variants in the MEFV gene, which disrupts normal inflammatory regulation. Because precise prevalence estimates are not well established, it is understood that the condition is observed in specific populations without a clearly defined frequency. The autosomal recessive inheritance pattern means that affected individuals have inherited two copies of the mutated gene, one from each parent.

The clinical features of autosomal recessive familial Mediterranean fever are characterized by recurrent episodes of inflammation. Most individuals experience peritonitis, recurrent fever, and abdominal pain, which are among the most frequently reported symptoms. Many also report arthralgia and arthritis, with chest pain and pleuritis occurring in a significant subset. Less common features include vomiting, erysipelas-like skin changes, diarrhea, and even more serious complications such as stage 5 chronic kidney disease, Crohn's disease, and aphthous ulcers. Not all individuals experience all features, and severity varies considerably.

Autosomal recessive familial Mediterranean fever is caused by pathogenic variants in the MEFV gene. The MEFV gene plays a key role in regulating the body’s inflammatory response, and changes in this gene disrupt normal control mechanisms, leading to the recurrent inflammatory episodes observed in affected individuals. Because this condition follows an autosomal recessive inheritance pattern, a person must inherit two mutated copies of MEFV—one from each parent—to manifest symptoms. Families are encouraged to seek genetic counseling to better understand the implications for family planning and recurrence risk.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for autosomal recessive familial Mediterranean fever. Treatment strategies are individualized and typically involve a multidisciplinary team to address the inflammatory episodes and any complications that arise. Patients are advised to work closely with their healthcare team, and genetic counseling is recommended to help families understand treatment options and long-term management strategies.

The course of autosomal recessive familial Mediterranean fever is highly variable, with outcomes depending on factors such as the severity of inflammatory episodes, age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to manage their symptoms effectively and maintain a good quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with genetic counselors and specialists who are familiar with this condition for ongoing support and guidance.