Premium
Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding
Author(s) -
Spectre Galia,
Roth Batia,
Ronen Galia,
Rosengarten Dror,
Elstein Deborah,
Zimran Ari,
Varon David,
RevelVilk Shoshana
Publication year - 2011
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2011.08613.x
Subject(s) - platelet , medicine , interquartile range , adhesion , gastroenterology , odds ratio , platelet adhesion , immunology , chemistry , organic chemistry
Summary 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.