Individuals with severe von Willebrand disease (VWD), the most rare and severe form of the condition, can experience a wide range of bleeding symptoms ranging from relatively mild to serious. Gastrointestinal (GI) tract bleeding, which can be very hazardous and even life threatening, falls firmly in the latter categoryA recent study published in the journal Haemophilia looked at GI bleeding events (BEs) in VWD, which pose significant management challenges for clinicians. The paper describes the ways in which GI BEs in severe VWD patients are complex, difficult to diagnose, and associated with a high risk for recurrence.
While the source of recurring GI BEs is not always identified, the authors looked closely at arteriovenous malformations (AVMs); often cited as a common cause. AVMs are congenital lesions in the GI tract, that occur when arteries and veins become tangled. This entanglement leads to the formation of irregular connections amongst veins/arteries in the tract, which can trigger additional complications. One particular type of AVM known as angiodysplasia, is a frequent cause of GI tract abnormalities and a significant contributor to recurrent GI bleeding in VWD patients.
This study was designed as a retrospective medical chart review conducted from January 2018 through December 2019. Participants included VWD patients from six U.S. hemophilia treatment centers who experienced at least one GI BE in the previous five years. Of the participants, 20% had type 1 VWD, 50% had type 2, and 30% had type 3, the rarest and most severe form. In all, 60 GI BEs were counted across all patients during the five-year study period. Fifty-five percent of all patients experienced more than one GI BE within the study period, with a mean number of 3.00 BEs per patient.
Among the 60 BEs, 42 (70%) had an identified or suspected cause. A single cause was noted for 31 (52%), while multiple causes for bleeding (identified or suspected) were reported in 11 (18%) BEs. The most commonly identified cause of GI BEs was suspected (15%) or confirmed (20%) AVM, either occurring alone or with other attributed causes such as gastritis and portal venous hypertension–related BEs.
Due to the severity of GI bleeds, the majority of treatments (92%) were administered in hospital setting. An array of therapies (administered in various combinations) were utilized to resolve the GI BEs. These included, though were not limited to von Willebrand factor (VWF) replacement therapies (plasma-derived and recombinant), antifibrinolytics, and proton pump inhibitors (medicines prescribed to reduce stomach acid production). Packed red blood cell transfusions were also commonly employed.
“The GI BEs described here resolved with a variety of treatments, including replacement VWF, antifibrinolytics, proton pump inhibitors, gastric acid buffers, anti-angiogenics and surgical interventions and were recurrent in many patients during the study period,” explained the authors.
The authors also emphasized the impact of difficult-to-manage GI bleeding on both VWD patients and the healthcare system. They cited increasing evidence suggesting that long-term prophylactic therapy may improve quality of life outcomes for these patients, while also reducing healthcare costs associated with frequent hospitalization.
“Better management of GI BEs continues as an unmet need in people living with severe inherited VWD. It is well established that GI bleeding is one of the most challenging complications of severe VWD, is associated with substantial morbidity and is the most frequent cause of hospitalization in VWD, concluded the authors. “The current study reflects the continued challenges of finding an effective treatment strategy for GI bleeding in VWD and contributes to the growing body of literature suggesting that routine VWF prophylaxis in people with severe VWD bleeding phenotype suffering from GI bleeding may help reduce the burden of illness.”
The authors did acknowledge some limitations with their study, pointing to the study’s small sample size and limited data relevant to GI bleeding outcomes associated with prophylaxis. Yet, the authors suggested that more definitive conclusions on the effective management of GI BEs could be reached with more robust clinical trial data.
Citation
Roberts JC, Escobar MA, Acharya S, Hwang NX, Wang M, Hale S, Brighton S, Kouides PA. Retrospective chart review of GI bleeding in people with von Willebrand disease. Haemophilia. 2024 Jul;30(4):970-980. doi: 10.1111/hae.15034. Epub 2024 May 15. PMID: 38751022.
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