Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients
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- Augusto B. Federici
- Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, and University of Milan, Milan, Italy;
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- Pier M. Mannucci
- Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, and University of Milan, Milan, Italy;
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- Giancarlo Castaman
- Department of Hematology, Hemophilia Thrombosis Center, San Bortolo Hospital, Vicenza, Italy;
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- Luciano Baronciani
- Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, and University of Milan, Milan, Italy;
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- Paolo Bucciarelli
- Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, and University of Milan, Milan, Italy;
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- Maria T. Canciani
- Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialties, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, and University of Milan, Milan, Italy;
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- Alessandro Pecci
- Department of Internal Medicine, IRCCS Policlinico S Matteo Foundation and University of Pavia, Pavia, Italy; and
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- Peter J. Lenting
- Department of Clinical Chemistry and Hematology, University of Utrecht, Utrecht, The Netherlands
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- Philip G. De Groot
- Department of Clinical Chemistry and Hematology, University of Utrecht, Utrecht, The Netherlands
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<jats:title>Abstract</jats:title><jats:p>Type 2B von Willebrand disease (VWD2B) is caused by an abnormal von Willebrand factor (VWF) with increased affinity for the platelet receptor glycoprotein Ib-α (GPIb-α) that may result in moderate to severe thrombocytopenia. We evaluated the prevalence and clinical and molecular predictors of thrombocytopenia in a cohort of 67 VWD2B patients from 38 unrelated families characterized by VWF mutations. Platelet count, mean platelet volume, and morphologic evaluations of blood smear were obtained at baseline and during physiologic (pregnancy) or pathologic (infections, surgeries) stress conditions. Thrombocytopenia was found in 20 patients (30%) at baseline and in 38 (57%) after stress conditions, whereas platelet counts were always normal in 16 patients (24%) from 5 families carrying the P1266L/Q or R1308L mutations. VWF in its GPIb-α–binding conformation (VWF–GPIb-α/BC) was higher than normal in all except the 16 cases without thrombocytopenia (values up to 6-fold higher than controls). The risk of bleeding was higher in patients with thrombocytopenia (adjusted hazard ratio = 4.57; 95% confidence interval, 1.17-17.90) and in those with the highest tertile of bleeding severity score (5.66; 95% confidence interval, 1.03-31.07). Prediction of possible thrombocytopenia in VWD2B by measuring VWF–GPIb-α/BC is important because a low platelet count is an independent risk factor for bleeding.</jats:p>
収録刊行物
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- Blood
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Blood 113 (3), 526-534, 2009-01-15
American Society of Hematology
