Epidemiology and Trends of Hereditary Hemorrhagic Telangiectasia in the United States

Abstract

Background

To our knowledge, no national studies have investigated the epidemiology of hereditary hemorrhagic telangiectasia (HHT) in the United States since the incorporation of the International Statistical Classification of Diseases and Related Health Problems, 10th Revision, Clinical Modification (ICD-10 CM).

Objective

Our objective is to analyze the epidemiology of HHT from 2013 to 2017 and to determine the relationships between epistaxis and other associated complications of this rare disease.

Methods

We analyzed the epidemiology of HHT between 2013 and 2017 by accessing data of 87 709 738 patients from the Clinformatics Data Mart using ICD-9 CM and ICD-10 CM codes. Variables analyzed included age, gender, region, clinical setting of diagnosis, hospitalizations, and complications. Bivariate analyses using generalized linear models were conducted to determine the likelihood of HHT patients with epistaxis enduring associated life-threatening complications such as cerebral hemorrhage, thrombosis, and pulmonary hemorrhage compared to HHT patients without epistaxis during the study period.

Results

The prevalence of HHT increased from 6.1 to 12.1 per 100 000 persons, with patients of ages 18 to 29 years and those older than 60 years seeing the greatest percent increase. The prevalence of HHT in the Southern United States saw a 147% increase. Compared to HHT patients without epistaxis, HHT patients with epistaxis were 3.4 times more likely to experience pulmonary hemorrhage, 3.3 times more likely to have pulmonary emboli, 2.8 times more likely to experience cerebral hemorrhage, and 2.0 times more likely to have thrombosis during the study period.

Conclusion

Our national study has provided the first incidence and prevalence rates of HHT in the United States since the incorporation of the ICD-10 CM. HHT patients with epistaxis require prompt multidisciplinary treatment of their condition due to their increased risk of life-threatening complications.

Keywords

hereditary hemorrhagic telangiectasia epistaxis thrombosis hemorrhage complications epidemiology prevalence incidence ICD-10

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