Cerebrovascular and cardiovascular disease burden in patients with hereditary hemorrhagic telangiectasia

Introduction Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease with prevalence of approximately 1 in 5000-10,000. We evaluated the prevalence and association of cerebrovascular and cardiovascular comorbidities in HHT patients using national database. Methods Retrospective observational study was performed using National Inpatient Sampling (NIS) database for the year 2014. HHT patients and comorbidities were identified using ICD-9 codes. Univariate and multivariate analyses were performed using SAS. Results Prevalence of HHT was 0.0119% with predominance in White population. Mean age of HHT patients was 59 years. Increased proportion of HHT patients had hypertension (46.8% vs 42%), anemia (28.9% vs 15.1%), chronic pulmonary disease (24.8% vs 16.4%), congestive heart failure (15.7% vs 7.5%), liver disease (7.9% vs 2.8%), migraine (4.5% vs 1.5%), and cerebrovascular malformations (0.8% vs 0.03%), whereas chronic kidney disease (12.7% vs 12.2%), headaches (1.3% vs 1.1%), seizures (0.7% vs 0.9%), transient ischemic attacks (1.06% vs 1.03%), ischemic (1.2% vs 1.0%), and hemorrhagic (0.5% vs 0.3%) strokes were similar to those without HHT. Multivariable model shows increase in cerebrovascular malformations (OR 11.04, CI 2.49-22.26, p < 0.0001), migraine (OR 3.23, CI 2.30-4.52, p < 0.0001), chronic blood loss anemia (OR 6.83, CI 5.36-8.71,p < 0.0001), congestive heart failure (OR 1.55, CI 1.26-1.91, p < 0.0001), chronic pulmonary disease (OR 1.30, CI 1.09 1.56, p = 0.0038), and hepatic disease (OR 2.63, CI 2.01-3.45, p < 0.0001) in HHT patients as compared to non HHT patients. Conclusion There is a need for a large prospective registry of HHT patients that can corroborate these associations and burden of cerebrovascular and cardiovascular diseases.

Automated summary

The study found that HHT patients have higher prevalence of hypertension, anemia, chronic pulmonary disease, congestive heart failure, and cerebrovascular malformations compared to non-HHT patients. There is a need for a large prospective registry to further understand these associations.