Characterizing the Healthcare Resource Utilization and Costs of Hereditary Hemorrhagic Telangiectasia (HHT)
Authors: Al-Samkari Hanny , Mayne Tracy , Texeira Sandra , Clancy Marianne S. , Duhaime Eric 
Published: December 2024

Introduction: HHT affects over 1 in 5000 persons, is the 2nd most common inherited bleeding disorder in the world and may be the most morbid inherited bleeding disorder of women. Patients with HHT suffer from recurrent severe epistaxis, chronic GI bleeds, iron infusion and RBC transfusion-dependent anemia, intracerebral hemorrhage, ischemic stroke, chronic liver disease and high-output heart failure. Despite considerable morbidity and mortality, the healthcare resource utilization and costs associated with HHT are not well-characterized.
Methods: We analyzed data from a large, nationally representative US claims database with &gt;330 million (M) patients with commercial insurance, Medicare and Medicaid. Claims included inpatient, outpatient and pharmacy. Pharmacy costs reflect direct reimbursement. Inpatient claims were derived from Diagnosis Related Group (DRG) Medicare Allowable Costs. Outpatient costs were derived from Current Procedural Terminology (CPT) and Healthcare Common Procedure Coding System (HCPCS) codes. We identified prevalent patients with 1 inpatient or 2 outpatient codes (separated by &gt;1 day) for HHT (ICD10 I78.0) between 01/01/18 and 12/31/23. We further segmented patients by those with concurrent anemia based on inpatient or outpatient ICD10, and those receiving hematologic support via intravenous (IV) iron and/or red blood cell (RBC) transfusions based on CPT, HCPC and NDC codes. We calculated mean and median per patient per year (PPPY) total costs in 2022 and 2023. We characterized top inpatient ICD10s, outpatient CPTs/HCPCs, and pharmaceuticals by cost.
Results: There were 24,407 & 23,524 HHT patients identified in 2022 & 2023, respectively. Patients were 61% female, almost half were ≥65 years old, nearly half were commercially insured and 40% had Medicare. 13,856 (57%) & 13,192 (56%) had a diagnosis of anemia and 6107 (25%) & 5726 (24%) received IV iron and/or RBC transfusion. Mean PPPY costs for all HHT patients were $19,386+$113,132 in 2022 & 19,398+$54,719 in 2023 (median $4979 & $5433). PPPY costs for HHT patients with anemia were $27,147+148,197 & $26,694+$68,328, accounting for 57% & 56% of HHT patients but 80% & 77% of total cost. PPPY costs for patients requiring IV iron/RBC transfusion were $40,298+$217,087 in 2022 & $37,827+$91,726 in 2023, accounting for 25% & 24% of HHT patients but 52% and 47% of total cost.
Of the $284M in total 2022 outpatient costs, the leading CPTs/HCPCs (accounting for $67.9M) were Factor VIIa injection ($21.1M, all in confirmed HHT diagnosis without other bleeding disorders), outpatient visits ($17.9M), bevacizumab injection ($10.5M), IV iron ($6.9M), vascular embolization and occlusion procedures ($6.2M) and emergency room visits ($5.2M). Patients requiring IV iron/RBC transfusions accounted for $43.6M (64%) of these leading costs. Of the $268M in 2023 outpatient costs, the leading CPTs/HCPCs (accounting for $45.2M) were outpatient visits ($15.4M), bevacizumab injection ($11.4M), IV iron ($6.8M), vascular embolization and occlusion procedures ($6.6M) and emergency room visits ($5.0M). Patients requiring IV iron/RBC transfusions accounted for $23.8MM (53%) of these leading costs.
Of the $107M in total 2022 inpatient costs, the leading ICD10s (accounting for $22.9M) were AVM or angiodysplasia with bleeding ($7.2M), sepsis ($6.4M), cirrhosis/liver failure ($5.2M), and HHT ($4.1M). Patients requiring IV iron/RBC transfusions accounted for $18.0M (79%) of these leading inpatient costs. Of the $104M inpatient costs in 2023, leading ICD10s (accounting for $19.4M) were sepsis ($6.0M), AVM/angiodysplasia ($5.1M), HHT (4.1M), and liver cirrhosis ($4.2M), Patients requiring IV iron/RBC transfusions accounted for $13.8M (71%) of these leading inpatient costs. In addition, 1.2% and 1.3% of patients with IV iron/RBC transfusion had received liver transplants, more than 40x the national average of 0.03%.
Conclusions: At ~$40,000 PPPY, patients with HHT requiring hematologic support have PPPY costs comparable to or eclipsing other severe genetic diseases such as sickle cell disease ($16,000) and cystic fibrosis ($40,000) (Tisdale, 2021). The most significant cost driver was anemia requiring hematologic support (IV iron/RBC transfusions). While cost data were skewed, the drivers of high cost are directly related to HHT (e.g., hemorrhage, anemia management, bevacizumab, HHT liver disease and vascular embolization).