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Familial Mediterranean fever in two Italian brothers
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disease of unknown etiology, characterized by recurrent self limited episodes of fever and polyserositis. Some patients develop generalized amyloidosis, which can be fatal. Colchicine therapy modifies the natural history of the disease by decreasing the attack frequency and preventing amyloid deposition. The disease is common among Sephardic Jews, Arabs, Armenians and has also been sporadically found in other ethnic groups of Mediterranean origin. We report two cases of FMF in brothers living in Abruzzo, Italy. They were born from consanguineous parents and complained typical symptoms since childhood. The boy suffered from one febrile attack every week; he presented three episodes of acute scrotum at age 8 and 9. The elder sister showed a spontaneous partial relief during adolescence. Juvenile rheumatoid arthritis was suspected and Aspirin was used for many years without any clinical improvement. Treatment with colchicine 1 mg/day was established at age 13 and 17 respectively, and a sudden reduction of frequency of attacks was obtained. A gingival biopsy did not show amyloid. The three elder brothers are, at present, in good health. Our experience point out the diagnostic difficulties of FMF especially in a country where the disease is uncommon.
Insights
Familial Mediterranean fever (FMF) is a rare genetic disorder causing recurrent fevers and inflammation. Early colchicine treatment significantly reduces attacks and prevents severe complications like amyloidosis.
Area of Science:
- Genetics and rare diseases
- Rheumatology and autoimmune disorders
- Internal medicine and clinical case studies
Background:
- Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease.
- Characterized by recurrent episodes of fever and polyserositis, FMF can lead to fatal amyloidosis.
- Colchicine therapy is effective in managing FMF symptoms and preventing amyloid deposition.
Observation:
- Two brothers from Abruzzo, Italy, with consanguineous parents presented with classic FMF symptoms since childhood.
- One brother experienced weekly febrile attacks and episodes of acute scrotum.
- The elder sister had a partial spontaneous remission in adolescence, with initial misdiagnosis as juvenile rheumatoid arthritis.
Findings:
- Both brothers showed a significant reduction in attack frequency after initiating low-dose colchicine therapy (1 mg/day).
- Gingival biopsy in one patient ruled out amyloid deposition.
- The patients' response to colchicine highlights its efficacy in managing FMF.
Implications:
- This case report underscores the diagnostic challenges of FMF, particularly in regions where it is uncommon.
- Highlights the importance of considering FMF in patients with recurrent unexplained fevers and polyserositis, even in non-endemic areas.
- Emphasizes the critical role of early diagnosis and colchicine treatment in preventing long-term complications of FMF.