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H. Weiss, D. Meyer, R. Rabinowitz, G. Piétu, J. Girma, W. Vicic, J. Rogers (1982)
Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers.The New England journal of medicine, 306 6
Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease
J. Michiels, U. Budde, M. Planken, H. Vliet, W. Schroyens, Z. Berneman (2001)
Acquired von Willebrand syndromes: clinical features, aetiology, pathophysiology, classification and management.Best practice & research. Clinical haematology, 14 2
A. Veyradier, CharlesS. Jenkins, É. Fressinaud, D. Meyer (2000)
Acquired von Willebrand Syndrome: from Pathophysiology to ManagementThrombosis and Haemostasis, 84
A. Federici, P. Mannucci, G. Castaman, L. Baronciani, P. Bucciarelli, M. Canciani, A. Pecci, P. Lenting, P. Groot (2009)
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.Blood, 113 3
P. Genderen, J. Michiels, J. Bakker, M. Veer (1994)
Effectiveness of High‐Dose Intravenous Gamma Globulin Therapy in Acquired von Willebrand's DiseaseVox Sanguinis, 67
D. Grimaldi, P. Bartolucci, M. Gouault-Heilmann, I. Martin-Toutain, M. Khellaf, B. Godeau (2008)
Rituximab failure in a patient with monoclonal gammopathy of undetermined significance (MGUS)- associated acquired von Willebrand syndromeThrombosis and Haemostasis, 99
P. Genderen, W. Terpstra, J. Michiels, Lian Kapteijn, H. Vliet (1995)
High-dose Intravenous Immunoglobulin Delays Clearance of von Willebrand Factor in Acquired von Willebrand DiseaseThrombosis and Haemostasis, 73
H. Grainick, S. Williams, L. McKeown, M. Rick, P. Maisonneuve, C. Jenneau, Y. Sultan (1985)
Von Willebrand's disease with spontaneous platelet aggregation induced by an abnormal plasma von Willebrand factor.The Journal of clinical investigation, 76 4
E. Favaloro (2006)
2B or not 2B? Differential identification of type 2B, versus pseudo‐von Willebrand diseaseBritish Journal of Haematology, 135
L. Marco, M. Mazzuccato, M. Ben, U. Budde, A. Federici, A. Girolami, Z. Ruggeri (1987)
Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors.The Journal of clinical investigation, 80 2
M. Enayat, A. Guilliatt, W. Lester, J. Wilde, M. Williams, F. Hill (2006)
Distinguishing between type 2B and pseudo‐von Willebrand disease and its clinical importanceBritish Journal of Haematology, 133
Shaji Kumar, R. Pruthi, W. Nichols (2003)
Acquired von Willebrand's syndrome: A single institution experienceAmerican Journal of Hematology, 72
(2005)
Acquired von Willebrand syndrome due to an antibody against von Willebrand factor associated to a strong platelet thromboagglutinin simulating a Type 2 B von Willebrand disease
M. Othman, José López, J. Ware (2011)
Platelet-type von Willebrand disease update: the disease, the molecule and the animal modelExpert Review of Hematology, 4
H. Ulrichts, J. Hársfalvi, L. Bene, J. Matkó, J. Vermylen, N. Ajzenberg, D. Baruch, H. Deckmyn, I. Tornai (2004)
A monoclonal antibody directed against human von Willebrand factor induces type 2B‐like alterationsJournal of Thrombosis and Haemostasis, 2
Jl Miller, A. Castella (1982)
Platelet-type von Willebrand's disease: characterization of a new bleeding disorderBlood, 60
(1997)
Autoantibody selectively inhibits bonding of VWF to GP1b. Recognition site is localized in A1 loop of VWF
P. Mannucci, R. Lombardi, R. Bader, M. Horellou, G. Finazzi, C. Besana, J. Conard, M. Samama (1984)
Studies of the pathophysiology of acquired von Willebrand's disease in seven patients with lymphoproliferative disorders or benign monoclonal gammopathies.Blood, 64 3
H. Saba, S. Saba, J. Dent, Z. Ruggeri, T. Zimmerman (1985)
Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation.Blood, 66 2
Z. Ruggeri (2003)
Von Willebrand factor, platelets and endothelial cell interactionsJournal of Thrombosis and Haemostasis, 1
In this report, we provide evidence of an acquired von Willebrand syndrome (AVWS) with a type 2B phenotype rather than the expected type 1 or 2A. The patient was referred prior to surgical removal of a fibrous mass within the maxillary sinus. His first bleeding 7 years earlier following a retinal tear had been complicated by monocular blindness. Several mucocutanous bleedings followed. Hematological investigations revealed von Willebrand factor (VWF):Ag 91 IU/ml, factor VIII 86 IU/ml, VWF:RCo 34 IU/ml and profound thrombocytopenia with platelet clumping. VWF multimer analysis showed a loss of high-molecular-weight multimers and his plasma aggregated normal platelets under low ristocetin concentration, consistent with type 2B von Willebrand disease (VWD). Sequencing of VWF exon 28 and of the platelet GP1BA gene to investigate the possibility of platelet-type VWD failed to reveal mutations. Serum protein electrophoresis showed a monoclonal IgG protein and led to the diagnosis of monoclonal gammopathy of unknown significance (MGUS), raising suspicion of an AVWS. Over 2 years, he experienced severe gingival bleedings and traumatic intracerebral hemorrhage. Following debridement of the sinus mass, the patient required 20 units of packed red blood cells, despite high-dose Humate-P, continuous Amicar and twice-daily platelet transfusions. Bleeding finally ceased following infusion of activated factor VIIa. A history of prior uncomplicated vasectomy and tendon laceration, no family history of bleeding, the inability to identify a causative mutation in either exon 28 VWF or platelet GP1BA and the MGUS led to diagnosis of AVWS with a type 2B phenotype. This case highlights the difficulties in assigning a diagnosis and the management of bleeding in a patient with an atypical presentation of AVWS.
Acta Haematologica – Karger
Published: Jan 1, 2013
Keywords: Type 2B von Willebrand disease; Acquired disorders of coagulation; Paraproteinemias
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