Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS)

Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vasculopathy afflicting 1 in 5000 individuals, is the second-most-common inherited bleeding disorder worldwide. Despite this prevalence, comprehensive data on disease manifestations and complications remain limited. To address this gap, the U.S. Congress allocated funding leading to the Comprehensive HHT Outcomes Registry of the United States (CHORUS; NCT06259292), a prospective, 15-center longitudinal registry enrolling unselected patients with confirmed HHT. In this initial report, we describe findings from the first 600 participants, with a median (range) age of 53 (0-88) years and 60% female. Despite most participants developing typical HHT manifestations by age 13, the majority (63%) were not diagnosed until mid-to-late adulthood. Recurrent spontaneous epistaxis occurred in 95% of participants, chronic gastrointestinal bleeding in 30%, and heavy menstrual bleeding in 35% of post-menarche females, together resulting in moderate-to-severe mucosal bleeding in 76%. Iron deficiency and/or anemia were diagnosed in 68%, with 41% requiring intravenous iron and 25% requiring red cell transfusions. Serious complications of solid-organ arteriovenous malformations were frequent, including intracranial hemorrhage (3%), pulmonary hemorrhage (2%), venous thromboembolism (7%), arterial thromboembolism (11%), heart failure (7%), and pulmonary hypertension (7%). This data from CHORUS, the first national registry of its kind, provides reliable, real-world estimates of the incidence, prevalence and severity of numerous HHT manifestations and complications. HHT has a high burden of moderate-to-severe bleeding, anemia, thrombosis, and major neurologic and cardiopulmonary complications. There is a mean interval between first symptoms and diagnosis of over two decades, during which substantial serious, preventable HHT morbidity, including early intracranial hemorrhage, may occur.

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Journal
Blood
Published
2026-03-17
DOI
https://doi.org/10.1182/blood.2026033112
Citations
1
Primary Topic
Vascular Anomalies and Treatments
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article
Field-Weighted Citation Impact
36.93
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article

Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS)

Miles Conrad, Marianne S. Clancy, Katharine Henderson, Bryan A. Sisk et al.
1 citations
Blood
Vascular Anomalies and Treatments
36.93
article

Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia: Data from the Comprehensive HHT Outcomes Registry of the US (CHORUS)

Miles Conrad, Marianne S. Clancy, Katharine Henderson, Bryan A. Sisk, Claire Kaufman, V. Sheynzon, Justin P. McWilliams, Murali M. Chakinala, Karen Smith, P. Kirkpatrick, Lucas R. Cusumano, Crystal Cottrill, Cassi Friday, Alison S. Witkin, Vaibhav Ahluwalia, J. Pollak, Peter Hountras, Jonathan Lindquist, Joseph G. Parambil, Scott O. Trerotola, John T. Battaile, Michael A. Ohliger, R. Kasthuri, Hara Levy, Theodore G. Drivas, Mark S. Chesnutt, KR McCrae, Melissa Beasley, James R. Gossage, S Hetts, An Lu, Vivek Iyer, Nolie Krock, Hanny Al-Samkari, Vikas Prasad, Kevin Whitehead, Danielle Boyce, Melissa Ann Dickey, Tania Competiello, Josanna Rodriguez-Lopez, Charles Griffin Murphy, Cassidy Sion, Kristi Jackson Kirkland
article en
1 citations

Abstract

Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vasculopathy afflicting 1 in 5000 individuals, is the second-most-common inherited bleeding disorder worldwide. Despite this prevalence, comprehensive data on disease manifestations and complications remain limited. To address this gap, the U.S. Congress allocated funding leading to the Comprehensive HHT Outcomes Registry of the United States (CHORUS; NCT06259292), a prospective, 15-center longitudinal registry enrolling unselected patients with confirmed HHT. In this initial report, we describe findings from the first 600 participants, with a median (range) age of 53 (0-88) years and 60% female. Despite most participants developing typical HHT manifestations by age 13, the majority (63%) were not diagnosed until mid-to-late adulthood. Recurrent spontaneous epistaxis occurred in 95% of participants, chronic gastrointestinal bleeding in 30%, and heavy menstrual bleeding in 35% of post-menarche females, together resulting in moderate-to-severe mucosal bleeding in 76%. Iron deficiency and/or anemia were diagnosed in 68%, with 41% requiring intravenous iron and 25% requiring red cell transfusions. Serious complications of solid-organ arteriovenous malformations were frequent, including intracranial hemorrhage (3%), pulmonary hemorrhage (2%), venous thromboembolism (7%), arterial thromboembolism (11%), heart failure (7%), and pulmonary hypertension (7%). This data from CHORUS, the first national registry of its kind, provides reliable, real-world estimates of the incidence, prevalence and severity of numerous HHT manifestations and complications. HHT has a high burden of moderate-to-severe bleeding, anemia, thrombosis, and major neurologic and cardiopulmonary complications. There is a mean interval between first symptoms and diagnosis of over two decades, during which substantial serious, preventable HHT morbidity, including early intracranial hemorrhage, may occur.

Blood
University of North Carolina at Chapel Hill (US), Cleveland Clinic (US), Mayo Clinic (US), University of Wisconsin–Madison (US), Harvard University (US), University of California, Los Angeles (US), University of California, San Francisco (US), Washington University in St. Louis (US), University of Missouri–St. Louis (US), University of Utah (US), Columbia University Irving Medical Center (US), UCLA Medical Center (US), Yale University (US), Augusta University Health (US), Massachusetts General Hospital (US), University of Minnesota Rochester (US), Mayo Clinic Hospital (US), Pulmonary Associates (US), Oregon Health and Science University Hospital (US), University of Colorado Anschutz Medical Campus (US), Columbia University (US), University of Pennsylvania (US), The University of Texas Southwestern Medical Center (US), University of Maine at Augusta (US), University of Colorado Denver (US)
Openalex Percentile: Top 0%
Vascular Anomalies and Treatments
36.93
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