Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones

Hagit N. Baris, Monika Weisz Hubshman, Zvi Bar-Sever, Liora Kornreich, Vered Shkalim Zemer, Ian J. Cohen

Research output: Contribution to journalArticlepeer-review

Abstract

Bone crises in type 1 Gaucher disease are reported in long bones and occasionally in weight bearing bones and other bones, but rarely in small bones of the hands and feet. We retrospectively examined the incidence of bone pain in patients followed at the Rabin Medical Center, Israel, before and following the initiation of enzyme replacement therapy (ERT) and evaluated them for bone crises. Of 100 type I Gaucher disease patients, 30 (30%) experienced one or more bone crises. Small bone crises represented 31.5% of all bone crises and were always preceded by crises in other bones. While the incidence of long bone crises reduced after the initiation of ERT, small bone crises increased. Almost 60% of patients with bone crises were of the N370S/84GG genotype suggesting a greater susceptibility of N370S/84GG patients to severe bone complications. These patients also underwent the greatest number of splenectomies (70.6% of splenectomised patients). Splenectomised patients showed a trend towards increased long and small bone crises after surgery. Active investigation of acute pain in the hands and feet in patients in our cohort has revealed a high incidence of small bone crises. Physicians should consider imaging studies to investigate unexplained pain in these areas.

Original languageEnglish
Pages (from-to)65-72
Number of pages8
JournalBlood Cells, Molecules, and Diseases
Volume60
DOIs
StatePublished - 1 Sep 2016

Keywords

  • Bone crisis
  • Enzyme replacement therapy
  • Gaucher disease
  • Small bones

Fingerprint

Dive into the research topics of 'Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones'. Together they form a unique fingerprint.

Cite this