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[Hereditary periodic fever].

P Lamprecht1, C Timmann, K Ahmadi-Simab

  • 1Rheumaklinik Bad Bramstedt, Poliklinik für Rheumatologie, Universitätsklinikum Schleswig-Holstein, Campus Lübeck. lamprecht@rheuma-zentrum.de

Der Internist
|July 10, 2004
PubMed
Summary
This summary is machine-generated.

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Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D periodic fever syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are autoinflammatory diseases caused by gene mutations. Diagnosis involves genetic analysis, with specific treatments like colchicine for FMF and etanercept for TRAPS.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D periodic fever syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are rare hereditary autoinflammatory disorders.
  • These syndromes are characterized by recurrent episodes of systemic inflammation, including fever, serositis, arthralgia, and rash.
  • Genetic mutations in MEFV (FMF), MVK (HIDS), and TNFRSF1A (TRAPS) genes lead to impaired protein function and dysregulated cytokine balance.

Purpose of the Study:

  • To review the genetic basis, clinical manifestations, diagnostic approaches, and therapeutic strategies for FMF, HIDS, and TRAPS.
  • To highlight the underlying molecular mechanisms involving pyrin, mevalonate kinase, and TNF-receptor 1A.
  • To provide an overview of current treatment options for these periodic fever syndromes.

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Main Methods:

  • Literature review of hereditary periodic fever syndromes.
  • Analysis of genetic mutations associated with FMF, HIDS, and TRAPS.
  • Summary of clinical presentations and diagnostic criteria.
  • Overview of therapeutic interventions including colchicine and etanercept.

Main Results:

  • FMF is linked to MEFV gene mutations, HIDS to MVK gene mutations, and TRAPS to TNFRSF1A gene mutations.
  • Clinical features include recurrent fever, serositis, arthralgia, myalgia, and rash.
  • Diagnosis relies on molecular genetic analysis of the causative genes.
  • Treatment strategies vary, with colchicine effective for FMF, symptomatic treatment for HIDS, and etanercept for TRAPS.

Conclusions:

  • FMF, HIDS, and TRAPS are distinct genetic periodic fever syndromes with shared inflammatory phenotypes.
  • Accurate genetic diagnosis is crucial for appropriate management.
  • Targeted therapies, such as colchicine for FMF and etanercept for TRAPS, can effectively manage disease activity.