Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding

Br J Haematol. 2011 May;153(3):372-8. doi: 10.1111/j.1365-2141.2011.08613.x. Epub 2011 Mar 9.


Patients with type I Gaucher Disease (GD) may have a clinically significant bleeding tendency that is disproportionate to their platelet count. We hypothesized that impaired platelet adhesion might contribute to bleeding tendency. Adult patients with type I GD with platelet counts ≥130×10(9) /l and haematocrit ≥30% (n=48), obligatory carriers (n=52), and healthy controls (n=19) were studied. Platelet adhesion, using the IMPACT-R (Cone and Plate(let) Analyser), and platelet aggregation were determined. Type I GD patients had significantly lower platelet adhesion [surface coverage %, median (interquartile range)] 4·6 (3·2-7·5), compared to controls, 8·7 (7·6-10·3), or carriers, 8·1 (6·5-9·4; P=0·001). Platelet adhesion was not affected by the use of disease-specific enzyme replacement therapy but was improved in patients after splenectomy, 7·2 (5·8-9·3). Mixing tests showed that the reduced adhesion was an intrinsic platelet defect. Mucosal bleeding was reported in 17 (35·4%) patients and was associated with abnormal adhesion [P=0·037, with an Odds Ratio (95% confidence interval) of 5·73 (1·1-29·6)]. Five patients (22%) had reduced platelet aggregation, all of whom had reduced platelet adhesion. Platelet aggregation defect was not associated with mucosal bleeding. In conclusion, platelet adhesion defect is a major thrombocytopathy in type I GD patients and can explain part of the increased tendency to bleeding.

MeSH terms

  • Adult
  • Blood Cell Count
  • Blood Platelet Disorders / blood
  • Blood Platelet Disorders / etiology*
  • Enzyme Replacement Therapy / methods
  • Female
  • Gaucher Disease / blood
  • Gaucher Disease / complications*
  • Gaucher Disease / therapy
  • Glucosylceramidase / therapeutic use
  • Hemorrhage / blood
  • Hemorrhage / etiology*
  • Humans
  • Male
  • Middle Aged
  • Platelet Adhesiveness / physiology*
  • Platelet Aggregation / physiology
  • Platelet Count
  • Platelet Function Tests
  • Splenectomy


  • Glucosylceramidase