First Genetically Confirmed Case of Familial Mediterranean Fever in Somalia: A Case Report and Diagnostic Challenges in Resource-Limited Setting

Abstract

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever, serositis, and systemic inflammation, primarily affecting Mediterranean populations. It is rarely reported in sub-Saharan Africa and remains underdiagnosed due to limited awareness and lack of genetic testing services. We report a 57-year-old Somali woman with a four-year history of recurrent high-grade fever, erysipelas-like erythema, and polyarthralgia. Due to the absence of diagnostic facilities in Somalia, she was referred to Egypt, where genetic testing confirmed an MEFV E148Q mutation. Colchicine and supportive therapy led to clinical improvement and reduced inflammatory markers. This is the first documented case of FMF in Somalia. There is an urgent need to improve physician awareness and expand local diagnostic capacity. In low-income settings like Somalia, where many people live in poverty, seeking medical care abroad is not feasible for most. Failure to address these gaps risks avoidable suffering, life-threatening complications, and worsening health inequities.