Hereditary hemorrhagic telangiectasia may be the most morbid inherited bleeding disorder of women.

Hereditary hemorrhagic telangiectasia (HHT) is the second-most-common inherited bleeding disorder worldwide and remains without approved therapies. HHT causes serious mucosal bleeding resulting in severe iron deficiency anemia, major psychosocial complications, and visceral arteriovenous malformations in brain, lung, and liver that can cause life-threatening hemorrhagic complications. No study has examined the relative morbidity of HHT and von Willebrand disease (VWD), the most common inherited bleeding disorders in women. We performed an observational cohort study of women with HHT or VWD, comparing a representative sample of 100 randomly selected women with HHT to 100 randomly selected age-matched women with VWD. In HHT versus VWD, recurrent epistaxis and GI bleeding were more likely (OR [95% CI]=32.73 [13.81-71.80], P<0.0001 and 5.69 [2.59-12.89], P<0.0001) and heavy menstrual bleeding was less likely (OR 0.32 [0.18-0.57], P<0.0001). Iron deficiency anemia was significantly more likely, and lowest hemoglobin significantly lower, in HHT versus VWD. Odds of iron infusion dependence, requirement for red cell transfusion, and hemostatic surgical procedures were significantly higher-17-fold, 3-fold, and 8-fold higher, respectively-and hospital admissions to manage disease complications were both approximately 14 times more frequent in women with HHT versus VWD. In conclusion, much higher disease-related morbidity, mortality, and healthcare utilization was observed in women with HHT versus VWD, providing evidence that HHT may be the most clinically significant inherited bleeding disorder of women. Given the vast gap in research funding for HHT compared with both hemophilia (a disease primarily of men) and VWD, these findings have significant implications for gender equity in hematology.