Presentation of Decreased Bone Mineral Density in a Woman Diagnosed with Familial Mediterranean Fever: A Case Report

Background/Objective: Familial Mediterranean fever (FMF) is an inherited autoinflammatory condition caused by mutations in the MEFV gene characterized by recurrent self-limited febrile episodes and polyserositis. Patients with familial Mediterranean fever are found to have low bone mineral density with elevated bone markers, such as serum osteoprotegerin (OPG). Its incidence is estimated to be high in the Turkish population at 1/3500. As this clinical entity is rare, it often remains underdiagnosed and underreported. There is scant evidence from a few studies in the literature.

We aim to depict in our case the significance of early osteoporosis screening interventions in FMF patients to mitigate the future risk of fractures.

Case Presentation: We report a case of a 45-year-old female with Familial Mediterranean Fever (FMF) on colchicine therapy who presented to an outpatient endocrinology clinic for evaluation. Her past medical history was significant for hypothyroidism, vitamin D deficiency, malabsorption, obesity (status post gastric sleeve surgery), IgA nephropathy, nephrolithiasis, and osteopenia. She was found to have reduced bone mineral density with a T-score of -3.7 in the lumbar spine, and T-score of -2.8 in the femoral neck on a recent DEXA scan.

Conclusion: Regular screening for osteoporosis in patients with familial Mediterranean fever with DEXA scan is recommended.  While it has been reported that significantly elevated serum OPG concentration in FMF is a protective mechanism that prevents bone loss, chronic inflammatory activity and malabsorption may contribute to bone loss. This case acts as a cautionary reminder of the diagnostic and therapeutic challenges associated with FMF and identifying risk factors to prevent further bone loss.