Abstract Number: PB1566
Meeting: ISTH 2020 Congress
Theme: Platelet Disorders and von Willebrand Disease » VWF and von Willebrand Factor Disorders - Clinical Conditions
Background: Von Willebrand’s syndrome (VWS) is an inherited bleeding disorder due to quantitative or qualitative defects of the von Willebrand factor (VWF). There is also an acquired form secondary to various underlying conditions, e.g. autoimmune diseases.
CREST syndrome (calcinosis cutis, Raynaud´s phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) is a subtype of systemic sclerosis. The angiodysplasias are mainly localized in the skin but also throughout the mucosal tract.
Aims: We report on a patient (54 y) with CREST syndrome since 2001. Despite immunosuppressive treatment she developed disseminated mucosal angiodysplasias and recurrent gastro-intestinal bleeding, eventually leading to constant need of blood transfusions. With a hemoglobin level of 7.0 g/dl the patient was referred to our clinic in May 2019.
Methods: We newly diagnosed a VWS type 2a with normal factor VIII:C activity and concentration of VWF:Ag., diminished VWF:RCo activity (31%) and loss of large VWF multimers. Since the same VWS was detected in the brother, acquired VWS could be ruled out.
Results: Intermittent administration of plasma-derived VWF/FVIII concentrates had no durable effect. Regular prophylaxis with these products – although effective – could not be continued, since FVIII:C plasma levels reached high values, further deteriorating the underlying Raynaud’s syndrome with crippling complications. We then opted for the recombinant VWF concentrate Vonicog alfa, containing ultralarge multimers which are most important for hemostasis but also for regulation of angiogenesis. Prophylactic (off lable) administration (3x/w) significantly reduced the number of bleeding episodes and transfusions and stabilized hemoglobin levels without adverse events.
Conclusions: In this special case, the CREST syndrome-typical angiodysplasias were obviously aggravated by the concomitant functional VWF defect, underlining the importance of hemostaseological evaluation. Prophylaxis with Vonicog alfa stabilized hemostasis without undesirable effects from high FVIII:C levels. In the long run, it remains to be clarified whether it will also positively influence the vascular malformations.
To cite this abstract in AMA style:
Binder C, Overbeck T. Prophylaxis with Recombinant von Willebrand Factor in a Case of Concomitant von Willebrand’s Disease and CREST Syndrome [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/prophylaxis-with-recombinant-von-willebrand-factor-in-a-case-of-concomitant-von-willebrands-disease-and-crest-syndrome/. Accessed March 21, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/prophylaxis-with-recombinant-von-willebrand-factor-in-a-case-of-concomitant-von-willebrands-disease-and-crest-syndrome/