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.