Genetics-Proven Familial Mediterranean Fever: A Case Report and Review of the Literature

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by relapsing and remitting episodes of fever and serositis. We have a case of a 35-year-old male who presented with nausea, abdominal pain and myalgia for several months. He underwent an extensive workup to rule out diabetic ketoacidosis, celiac disease, gastroparesis, rheumatoid arthritis and porphyria. It was determined that he had heterozygous V726A mutation for the MEFV (Mediterranean fever) gene, suggesting possible FMF. His symptoms responded well to colchicine.