Hereditary periodic fever and reactive amyloidosis

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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J C H van der Hilst1, A Simon, J P H Drenth

  • 1Division of General Internal Medicine, Department of Medicine, Radboud University Nijmegen Medical Center, 9101, 6500, HB Nijmegen, The Netherlands. j.vanderhilst@aig.umcn.nl

Clinical and Experimental Medicine
|November 15, 2005
PubMed

Insights

Hereditary periodic fever syndromes (HPF) involve recurrent fevers and inflammation. Treatments like colchicine for Familial Mediterranean Fever (FMF) and anticytokine therapies for other HPFs can prevent severe amyloidosis complications.

Area of Science:

  • Rheumatology
  • Genetics
  • Immunology

Background:

  • Hereditary periodic fever syndromes (HPF) are characterized by recurrent inflammatory episodes.
  • Familial Mediterranean Fever (FMF), Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), TRAPS, and CAPS are key HPFs.
  • Reactive amyloidosis, a severe complication, arises from serum amyloid A (SAA) deposition.

Purpose of the Study:

  • To review the clinical features and genetic basis of HPFs.
  • To discuss the pathogenesis and risk factors for reactive amyloidosis in HPFs.
  • To evaluate current and emerging therapeutic strategies for HPFs and their impact on amyloidosis.

Main Methods:

  • Literature review of hereditary periodic fever syndromes.
  • Analysis of genetic factors and SAA protein in amyloidosis development.
  • Evaluation of treatment outcomes for FMF and other HPFs.

Main Results:

  • Causative genes for HPFs have been identified.
  • SAA concentrations, SAA gene polymorphisms, and ethnicity influence amyloidosis risk.
  • Colchicine is effective for FMF management and amyloidosis prevention.
  • Anticytokine therapies show promise for other HPFs and amyloidosis prevention.

Conclusions:

  • HPFs are a group of distinct autoinflammatory disorders.
  • Reactive amyloidosis is a significant concern in HPFs, influenced by various factors.
  • Targeted therapies, including colchicine and anticytokines, are crucial for managing HPFs and preventing complications.

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