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

TOPALOĞLU R., AKTAY AYAZ N., Waterham H. R., YÜCE A., Gumruk F., Sanal O.

CLINICAL RHEUMATOLOGY, vol.27, no.10, pp.1317-1320, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 10
  • Publication Date: 2008
  • Doi Number: 10.1007/s10067-008-0911-3
  • Journal Name: CLINICAL RHEUMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1317-1320
  • Keywords: anti-TNF treatment, hepatosplenomegaly, hyperimmunoglobulinemia D and periodic fever, HYPER-IGD SYNDROME, MEVALONATE KINASE-DEFICIENCY, INFLAMMATORY ATTACKS, MEDITERRANEAN FEVER, SPECTRUM, PATIENT, DISEASE, GENE
  • Ankara University Affiliated: Yes

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.