[Patient with familial Mediterranean fever and amyloidosis]

Area of Science:

• Nephrology
• Rheumatology
• Genetics

Background:

• Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder characterized by recurrent episodes of fever and serositis.
• Secondary amyloidosis can develop as a serious complication of chronic inflammatory conditions like FMF.
• This case highlights the diagnostic challenges and management of a patient with FMF complicated by secondary amyloidosis.

Observation:

• The patient presented with a history of recurrent acute articular and abdominal pains, indicative of FMF.
• Elevated urinary ethicholanolone and extremely high serum fibrinogen levels were observed, recognized as pathognomonic signs of FMF.
• Amyloid deposition was confirmed in rectal and renal biopsies, confirming secondary amyloidosis.

Findings:

• Despite diffuse renal amyloid deposition, the patient maintained normal renal function, with no glomerular sclerosis, normal creatinine clearance, and normal serum nitrogenous bodies.
• Colchicine treatment demonstrated a favorable effect on both the acute attacks of FMF and the renal manifestations of amyloidosis.
• This suggests colchicine's potential role in managing renal involvement in FMF-associated amyloidosis.

Implications:

• Colchicine therapy may be a crucial intervention for preventing or slowing the progression of renal disease in patients with FMF and secondary amyloidosis.
• Early diagnosis and consistent treatment of FMF are vital to prevent severe complications like systemic amyloidosis.
• Further research is warranted to elucidate the long-term efficacy and mechanisms of colchicine in managing renal amyloidosis in FMF patients.