WATERTOWN, Mass., July 10, 2025 (GLOBE NEWSWIRE) — Diagonal Therapeutics, a biotechnology company focused on correcting dysregulated signaling with clustering antibodies that address the underlying cause of intractable genetic diseases, today announced the publication of study results detailing new health economics and outcomes research (HEOR) that characterizes the significant healthcare utilization and costs associated with hereditary hemorrhagic telangiectasia (HHT) in the American Journal of Hematology.
“This study provides the first detailed analysis of the healthcare resource demands and costs associated with HHT, highlighting the substantial economic impact this disease places on patients and the health system,” said Hanny Al-Samkari, M.D., the Peggy S. Blitz Endowed Chair in Hematology/Oncology at the Massachusetts General Hospital, Associate Professor of Medicine at Harvard Medical School, and lead author of the study. “The findings underscore the urgent need for treatments that can effectively address the underlying cause of HHT and reduce the complications related to chronic bleeding and anemia, which are major cost drivers requiring hematologic support, hospital admissions, and emergency care.”
HHT is the second most common inherited bleeding disorder globally, affecting approximately 1 in 4,000 to 5,000 people and an estimated 80,000 in the U.S. The disorder leads to recurrent severe epistaxis (nosebleeds), chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations (AVMs) in organs such as the lungs, liver, and brain. These AVMs can cause serious or fatal bleeding events and comorbidities, including chronic and recurrent iron deficiency anemia—which occurs in nearly 60% of HHT patients. Chronic anemia is well known to increase risk for hospitalizations, heart failure, and death. Currently, there are no FDA- or EMA-approved therapeutics for HHT worldwide, and treatments are largely limited to off-label use of costly immunomodulatory and antiangiogenic drugs.
The study leveraged Komodo Health’s Healthcare Map® claims database* to analyze real-world healthcare costs for HHT patients in 2022 and 2023. Key findings from the publication include:
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Per patient per year (PPPY) costs for people living with HHT are comparable to or surpass those of other rare and resource-intensive diseases.
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Bleeding and its consequences were identified as the primary drivers of healthcare costs.
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Mean PPPY costs for all HHT patients were >$19,000 across 2022 and 2023, about 20% higher than those for sickle cell disease.
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For HHT patients with anemia, the mean PPPY costs were approximately $27,000, comparable to those associated with muscular dystrophy.
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Patients with HHT receiving hematologic support (iron infusions and/or red blood cell transfusions) had mean PPPY costs of approximately $40,000, comparable to those associated with cystic fibrosis.
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HHT patients with anemia, while accounting for nearly 60% of the HHT patient population, were responsible for approximately 80% of the direct medical costs.
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Notably, the prevalence of liver transplantation among HHT patients, arising from complications of liver AVMs, was 40 times greater than in the general U.S. population.