Familial Mediterranean Fever (FMF), a periodic auto-inflammatory disease, is associated with multiple systemic manifestations. A study described the various musculoskeletal and neurological manifestations in a cohort of Egyptian FMF patients and evaluated their relation to the different Mediterranean fever gene (MEFV) mutations.

The following results were obtained-

• This study involved 145 FMF patients, including 62.1% females and 31.7% of the pediatric age.
• All enrolled patients had homozygous MEFV gene mutations.
• 71.9% of these patients had abdominal pain followed by musculoskeletal manifestations in 35.2% as the presenting manifestation.
• 38.6 % of the enrolled patients reported arthritis during the period of follow-up.
• The most frequent pattern of arthritis was found to be Monoarthritis.
• 96.6% of the studied patients had Arthralgia.
• 19.3% of the studied patients reported Myalgia especially involving the lower limb muscles with one case of protracted febrile myalgia.
• 86.9 % of patients reported Neurological manifestations, with vertigo, paresthesia, and seizures as the most common.
• Most of the studied patients showed five major MEFV gene mutations: M694V, M680I, E148Q, V726A, and M694I.
• No statistical difference was found on comparing between these five major mutations according to the age of onset of the symptoms, different musculoskeletal and neurological manifestations, ESR, serum amyloid level and dose of colchicine. 

Thus Musculoskeletal manifestation was found to be the second most common presenting symptom in FMF patients after abdominal pain, with Arthralgia being the most frequent musculoskeletal manifestation while monoarthritis of the knee or ankle joint being the commonest pattern of arthritis in FMF patients. Also, Vertigo, paresthesia, and seizures can be regarded as the most frequent neurological manifestations in these patients. Musculoskeletal manifestations, neurological manifestations, serum amyloid level, and dose of colchicine are unrelated to the type of genetic mutation.

SOURCE- Egypt Rheumatol Rehabil,2022;49(6). https://doi.org/10.1186/s43166-021-00106-w