Familial Mediterranean Fever (FMF) is a non-infectious genetic disorder manifested by episodic fevers typically accompanied by pain in the abdomen, joints, or chest. FMF is caused by a mutation in the MEFV gene. It most often occurs in individuals of Mediterranean or Middle Eastern descent. In 90% of cases, episodes start before age 20. About 75% of FMF cases begin before age 10. Children with FMF can have only one (from one parent), or both (from both parents), mutated MEFV genes. Lifelong treatment to control inflammation may prevent injury to organs.

What Are the Signs and Symptoms of Familial Mediterranean Fever?

FMF often causes recurrent fevers accompanied by pain in the abdomen, joints, or chest. Episodes usually last one to three days then go away. FMF is not contagious. Children with frequent episodes may not fully recover or grow normally. Children younger than five may only have fevers. Severe abdominal pain may be mistaken for appendicitis. Severe chest pain may cause difficulty breathing. Usually, one joint such as an ankle or knee, is painful or swollen. Swelling resolves in 1-2 weeks. A red rash on the lower extremities affects one third of patients. Some children have muscle pain in their legs, especially after activity. Rare complications are inflammation of the heart (pericarditis), membrane around the brain and spinal cord (meningitis), muscles (myositis) or testicles (orchitis). Diagnosis is confirmed with a positive test for the MEFV gene mutation.

What Are Common Treatments?

Colchicine taken by mouth one to two times a day for life helps control FMF. Colchicine prevents episodes but cannot treat an acute episode. Children with FMF who take colchicine as prescribed can have normal, long lives. If colchicine is not effective, interleukin-1 blockers such as rilonacept (Arcalyst), anakinra (Kineret) or canakinumab (Ilaris) may be effective.

Living with Familial Mediterranean Fever

Children with FMF, if treated properly, can lead normal lives. To prevent FMF symptoms, take colchicine as prescribed without skipping doses. Some children may need psychological support to cope with having a chronic illness that requires lifelong treatments. FMF episodes may affect school attendance; teachers, school officials and social workers can help children cope. With regular treatment, children with FMF can stay active, pursue their education and lead productive adult lives.

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