title: Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement.
abstract: OBJECTIVE
  To assess correlations of patient demographics, including enzyme replacement therapy (ERT) with bone histology, to facilitate decisions of whether and when to perform hip replacement surgery in patients with Gaucher disease.
  
  
  METHODS
  We examined the histology of surgically removed femoral heads and categorized findings by the presence or extent of osteonecrosis, Gaucher cell (GC) infiltration, and bone regeneration qualifiers using a tripartite histology-based scoring system.
  
  
  RESULTS
  Twenty-two patients with 26 bone specimens were evaluated. Seventeen patients (77%) were splenectomized, 16 (73%) received ERT, and 12 (55%) had the putatively milder genotype (N370S/N370S), with the rest putatively at increased risk for skeletal disease (N370S/other). The 3 histology subscores were applicable to all specimens. Osteonecrotic bone was seen in 19 of 26 (73%); osteoarthritis was seen in all cartilage specimens. Gaucher cell infiltration was not correlated with demographics or disease severity. A trend was noted between reduced GC infiltration and ERT (ρ = 0.407), but regeneration qualifiers were not correlated with ERT or other features.
  
  
  CONCLUSIONS
  Histologic findings of GC infiltration and bone regeneration qualifiers did not correlate with demographics or with exposure to ERT. Most specimens unexpectedly showed good regenerative responses to osteonecrosis despite heavy GC infiltration.
authors.affiliation: Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Ehud
authors.initials: E
authors.lastname: Lebel
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Ariel
authors.initials: A
authors.lastname: Peleg
authors.forename: Constantine
authors.initials: C
authors.lastname: Reinus
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
authors.forename: Gail
authors.initials: G
authors.lastname: Amir
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001861:Bone Regeneration; D056947:Enzyme Replacement Therapy; D005260:Female; D005270:Femur Head / Q000473:pathology*; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D005838:Genotype; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010003:Osteoarthritis / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D010020:Osteonecrosis / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D012306:Risk; D012720:Severity of Illness Index; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase
keywords: Bone histology; Enzyme replacement therapy; Gaucher cells; Gaucher disease; Osteonecrosis