To examine the demographics, comorbidities and disease burden in patients with diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in US population.  

HHT, also known as Osler-Weber-Rendu syndrome, is a genetic disorder that results in abnormalities of the vascular system including the brain, heart, lungs, and liver. This rare complex disease is inherited in an autosomal dominant (AD) fashion and often goes undiagnosed. A few case reports have identified high-output heart failure in HHT population.

Data was collected using the National Inpatient sample (NIS) database for the year 2014. Subjects of interest were identified using the International Classification of Diseases, 9th Revision (ICD-9) codes for HHT. Multiple logistic regression modeling for complex design was applied using the SAS system (version 9.4, Cary, NC, USA) to assess the odds of HHT across categories of predicting variables.

A total of 842 patients with HHT were identified in the NIS database, with a prevalence of 0.0119%. The mean age of  HHT patients was 59 years, with females (60%) being slightly more affected than males (40%). Majority of the HHT patients were Whites (74.3%) followed by Blacks (12.5%), Hispanics (9.7%), Asians/ Pacific Islanders (0.9%) and Native Americans (0.4%). The comorbid conditions significantly associated with HHT were anemia, congestive heart failure (CHF), cerebrovascular anomaly (CVA), lung disease, liver disease, migraine, rheumatoid Arthritis, and hypertension (p-value<0.05). One hundred thirty and two (15.7%) out of the 842 HHT patients, had a diagnosis of CHF.

This is the first study where a statistically significant association between HHT and congestive heart failure has been reported using a large national database.