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[Familial Mediterranean fever with amyloidosis. Recent pathogenetic and therapeutic aspects]

Insights

Familial Mediterranean Fever (FMF) patients with AA-type amyloidosis experienced severe nephrotic edema. Dimethyl sulfoxide (DMSO) treatment improved renal function and lowered serum amyloid-A protein (SAA) levels.

Area of Science:

  • Nephrology
  • Rheumatology
  • Internal Medicine

Background:

  • Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
  • AA-type amyloidosis, characterized by serum amyloid-A protein (SAA) deposition, can be a severe complication of FMF.
  • Nephrotic edema indicates significant renal involvement in AA-type amyloidosis.

Observation:

  • A 34-year-old Turkish patient with FMF presented with severe nephrotic edema and biopsy-confirmed AA-type amyloidosis.
  • Standard treatments (colchicine, diuretics) managed FMF symptoms and edema but did not halt renal failure progression.
  • Elevated serum amyloid-A protein (SAA) levels were noted in the patient.

Findings:

  • Dimethyl sulfoxide (DMSO) treatment led to marked improvement in renal function.
  • DMSO therapy significantly reduced serum amyloid-A protein (SAA) levels.
  • The progression of renal failure and proteinuria remained unaffected by colchicine and diuretics.

Implications:

  • DMSO may inhibit the progression of AA-type amyloidosis in FMF.
  • DMSO's antiphlogistic properties could be responsible for its therapeutic effects.
  • This treatment warrants consideration for other forms of AA-type amyloidosis.

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