Abstract
Hereditary hemorrhagic telangiectasia (HHT) is the second-most common inherited bleeding disorder worldwide, afflicting one in 4000-5000 people, and is the most morbid inherited bleeding disorder of women. HHT causes recurrent severe epistaxis, chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations in the lung, liver, and brain that cause serious bleeding and nonbleeding complications. There are no approved treatments worldwide, and the direct medical costs of HHT have not been well-characterized. We utilized the Komodo Healthcare Map claims database to create a large sample of US patients diagnosed with HHT, including a subgroup with anemia and a subgroup receiving hematologic support (iron infusions and/or red cell transfusions). We quantified mean per patient per year (PPPY) and total population inpatient, outpatient, and pharmacy costs in 2022 and 2023. The mean PPPY costs for all HHT patients (n = 24 407; n = 23 524), those with anemia (n = 13 856; n = 13 192) and those receiving hematologic support (n = 6191; n = 5818) were approximately $19 000, $27 000, and $40 000, respectively, across years, representing > $450 000 000 in annual healthcare costs in the sample. The leading cost drivers were related to treatment for bleeding and its consequences. While accounting for nearly 60% of HHT patients, those with anemia accounted for ~80% of direct medical costs. Across the majority of leading inpatient, outpatient, and pharmacy cost drivers, patients with anemia and anemia treatment accounted for 75%-100% of cost. The PPPY costs of HHT are comparable to, or exceed, those of other rare, resource-intensive serious diseases, including sickle cell disease, muscular dystrophy, and cystic fibrosis.