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Blood, 15 January 2009, Vol. 113, No. 3, pp. 526-534.
Prepublished online as a Blood First Edition Paper on September 19, 2008; DOI 10.1182/blood-2008-04-152280.
 Previous Article | Next Article 
Submitted April 18, 2008
Accepted August 23, 2008
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: A cohort study of 67 patients
Augusto B. Federici*, Pier M Mannucci, Giancarlo Castaman, Luciano Baronciani, Paolo Bucciarelli, Maria T Canciani, Alessandro Pecci, Peter J Lenting, and Philip G De Groot
Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, University of Milan, Milan, Italy
Department of Hematology, Hemophilia Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
Department of Internal Medicine, IRCCS Policlinico S. Matteo Foundation and University of Pavia, Pavia, Italy
Department of Clinical Chemistry and Hematology, University of Utrecht, Utrecht, Netherlands
* Corresponding author; email: augusto.federici{at}unimi.it.
Type 2B von Willebrand disease (VWD2B) is caused by an abnormal von Willebrand factor (VWF) with increased affinity for the platelet receptor glycoprotein Ib (GPIb) that may result in moderate to severe thrombocytopenia. We have evaluated the prevalence, clinical and molecular predictors of thrombocytopenia in a cohort of 67 VWD2B patients from 38 unrelated families, characterized by VWF mutations. Platelet counts, mean platelet volume and morphologic evaluations of blood smear were obtained at baseline and during physiological (pregnancy) or pathological (infections, surgeries) stress conditions. Thrombocytopenia was found in 20 patients (30%) at baseline and in 38 (57%) after stress conditions, while platelet counts were always normal in 16 patients (24%) from 5 families carrying the P1266L/Q or R1308L mutations. VWF in its GPIb-binding conformation (VWF-GPIb:BC) was higher than normal in all except the 16 cases without thrombocytopenia, with values up to 6-fold higher than controls. The risk of bleeding was higher in patients with thrombocytopenia [adjusted hazard ratio: 4.57 (95% CI 1.17-17.90)] and in those with the highest tertile of bleeding severity score [5.66 (95% CI 1.03-31.07)]. Prediction of possible thrombocytopenia in VWD2B by measuring VWF-GPIb:BC is important because a low platelet count is an independent risk factor for bleeding
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