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Abstract: SA-PO940

Not So Familiar: A Case on Familial Mediterranean Fever

Session Information

Category: CKD (Non-Dialysis)

  • 2202 CKD (Non-Dialysis): Clinical‚ Outcomes‚ and Trials

Authors

  • Sinha, Ram, AtlantiCare Regional Medical Center, Atlantic City, New Jersey, United States
  • Siddiqui, Neha, AtlantiCare Regional Medical Center, Atlantic City, New Jersey, United States
  • Mathews, Robert J., AtlantiCare Regional Medical Center, Atlantic City, New Jersey, United States
  • Szulc, Magdalena, AtlantiCare Regional Medical Center, Atlantic City, New Jersey, United States
Introduction

Familial Mediterranean Fever (FMF) is an autoinflammatory disorder that was thought to be autosomal recessive, however, there is increasing evidence of possible dominant penetrance. FMF is caused by mutations of the MEFV gene and the expression of pyrin. Pyrin is an intracellular pattern recognition receptor that leads to the formation of inflammasome complexes. Pyrin is expressed in several cells including granulocytes, monocytes, and fibroblasts of the synovium and peritoneum. The threshold to activate pyrin inflammasomes is reduced in patients with FMF. Up to ninety percent of patients have their first febrile attack with symptoms including pleural or abdominal pain, arthritis, and skin lesions by the age of 20. Systemic amyloidosis, caused by the deposition of serum amyloid A, was a common complication that affected the kidneys prior to the use of colchicine prophylaxis. This report presents a case of amyloidosis in the setting of FMF.

Case Description

We report a case of a 57-year-old white male with known PMHx of hypertension, arthritis on NSAIDs, and medication non-compliance who presented with hypertensive emergency. Patient endorsed no known family history. Patient was deemed to have acute kidney injury versus progression of chronic kidney disease. Urinalysis noted macroscopic hematuria and proteinuria. Renal ultrasound was read as unremarkable. Urine indices were consistent with an intrinsic etiology. The patient continued to have reduced kidney function, hematuria, and proteinuria. The patient was found to be positive for p-ANCA. A renal biopsy was performed and noted A.A. type amyloidosis and significant interstitial fibrosis. The patient denied fevers, abdominal and pleural pain. Upon learning his diagnosis, the patient endorsed a family history of arthritis and what was likely FMF. Patient was subsequently started on colchicine for suppresive therapy.

Discussion

Familial Mediterranean Fever is an autoinflammatory disorder that presents in ninety percent of patient by the age of 20. Recognition of the constellation of non-specific symptoms is crucial to the initiation of suppressive therapy to prevent systemic amyloidosis. In our case, the patient presented with renal amyloidosis at a later age and likely lacked febrile attacks due to his chronic NSAID use. The biopsy proved to be instrumental in the diagnosis and initiation of suppressive management.