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Genetic risk factors of amyloidogenesis in familial Mediterranean fever

Ali Delibaş1, Ayşe Oner, Banu Balci

  • 1Mersin University Faculty of Medicine, Department of Pediatric Nephrology, Mersin, Turkey.

American Journal of Nephrology
|August 25, 2005
PubMed
Abstract

Insights

Familial Mediterranean Fever (FMF) patients with M694V/M694V MEFV mutations and SAA1 alpha/alpha genotypes face increased amyloidosis risk. Early colchicine treatment may be beneficial for these individuals, even if asymptomatic.

Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Rheumatology

Background:

  • Familial Mediterranean Fever (FMF) is an autoinflammatory disorder.
  • Renal amyloidosis is a serious complication of FMF.
  • Genetic factors influencing FMF severity and amyloidosis risk require further investigation.

Purpose of the Study:

  • To evaluate risk factors for renal amyloidosis in FMF patients.
  • To examine the phenotype-genotype correlation of MEFV and SAA1 gene polymorphisms in FMF.
  • To identify genetic markers associated with increased amyloidosis risk.

Main Methods:

  • Investigated MEFV and SAA1 genotypes (alpha, beta, gamma) in 50 FMF patients and 50 healthy children.
  • Utilized Tel-Hashomer criteria for FMF diagnosis and severity scoring.
  • Performed logistic regression analysis to determine corrected risk for amyloidosis.

Main Results:

  • M694V/M694V was the most common MEFV mutation (26/50), and SAA1 alpha/alpha was the most common SAA1 genotype (26/50).
  • Positive family history of amyloidosis and a more severe clinical course were significantly associated with amyloidosis.
  • Patients with both M694V/M694V and SAA1 alpha/alpha genotypes showed a 2.5-fold increased risk of amyloidosis.

Conclusions:

  • The M694V/M694V mutation combined with the SAA1 alpha/alpha genotype may predispose FMF patients to amyloidosis.
  • Increased clinical severity in FMF is linked to these genetic factors.
  • Early colchicine treatment is recommended for at-risk children, even if asymptomatic, to prevent amyloidosis.

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