Histologic Findings of Femoral Heads From Patients With Gaucher Disease Treated With Enzyme Replacement

Gaucher Clinic/Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
American Journal of Clinical Pathology (Impact Factor: 2.51). 07/2013; 140(1):91-6. DOI: 10.1309/AJCPFVSAEGO67NGT
Source: PubMed


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.

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.

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.

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.

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    • "First of all, bone disease has always been considered part of the clinical spectrum of Gaucher disease and it has become clear that only partial improvement of bone disease can be achieved with ERT. It appears that in patients with a longstanding history of Gaucher disease, aggregates of Gaucher cells cannot be cleared, even when high doses of enzyme are supplied for many years (de Fost et al 2008; Lebel et al 2013). Post-mortem studies have shown persistent Gaucher cells despite ERT in other tissues as well (Hulkova et al 2009). "
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