title: 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.
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.
authors.affiliation: The Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address: hb_feldman@rambam.health.gov.il.
authors.forename: Hagit N
authors.initials: HN
authors.lastname: Baris
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Monika
authors.initials: M
authors.lastname: Weisz Hubshman
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Department of Nuclear Medicine, Israel.
authors.forename: Zvi
authors.initials: Z
authors.lastname: Bar-Sever
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Pediatric Radiology Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
authors.forename: Liora
authors.initials: L
authors.lastname: Kornreich
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Vered
authors.initials: V
authors.lastname: Shkalim Zemer
authors.affiliation: The Raphael Recanati Genetics Institute, Rabin Medical Center, Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel; Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000473:pathology*; D002648:Child; D056947:Enzyme Replacement Therapy / Q000009:adverse effects; D005260:Female; D005529:Foot Bones / Q000473:pathology*; D005776:Gaucher Disease / Q000150:complications*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050276:Hand Bones / Q000473:pathology*; D006801:Humans; D015994:Incidence; D007867:Leg Bones / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000209:etiology*; D012189:Retrospective Studies; D013156:Splenectomy; D055815:Young Adult
keywords: Bone crisis; Enzyme replacement therapy; Gaucher disease; Small bones