Clinical Rheumatology

, 27:1317

Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up

  • Rezan Topaloğlu
  • Nuray Aktay Ayaz
  • Hans R. Waterham
  • Aysel Yüce
  • Fatma Gumruk
  • Özden Sanal
Case Report

Abstract

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up.

Keywords

Anti-TNF treatment Hepatosplenomegaly Hyperimmunoglobulinemia D and periodic fever 

Abbreviations

HIDS

hyperimmunoglobulinemia D and periodic fever

MVK

mevalonate kinase

Hct

hematocrit

AST

aspartate amino transferase

ALT

alanine amino transferase

CT

computerized tomography

ESR

erythrocyte sedimentation rate

MEFV

Mediterranean fever

SAA

serum amyloid A

Anti-TNF

antitumor necrosing factor

HMG-CoA

3’-hydroxy-3’-methylglutarylcoenzyme A

IL-1

interleukin-1

Copyright information

© Clinical Rheumatology 2008

Authors and Affiliations

  • Rezan Topaloğlu
    • 1
  • Nuray Aktay Ayaz
    • 1
  • Hans R. Waterham
    • 2
  • Aysel Yüce
    • 3
  • Fatma Gumruk
    • 4
  • Özden Sanal
    • 5
  1. 1.Pediatric Nephrology and Rheumatology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  2. 2.Department of Clinical Chemistry, Laboratory Genetic Metabolic DiseasesAcademic Medical CenterAmsterdamThe Netherlands
  3. 3.Pediatric Gastroenterology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  4. 4.Pediatric Hematology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  5. 5.Pediatric Immunology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey

Personalised recommendations