The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia

Genet Med. 2014 Jan;16(1):33-9. doi: 10.1038/gim.2013.66. Epub 2013 May 23.


Purpose: To assess the utility of US health insurance data for surveillance of hereditary hemorrhagic telangiectasia, an autosomal-dominant blood vasculature disorder with an estimated prevalence of 1.5-2.0 per 10,000 persons worldwide.

Methods: We used 2005-2010 MarketScan Research Databases to identify individuals with employer-sponsored health insurance and International Classification of Disease, 9th Revision, Clinical Modification codes of 448.0 present in either one inpatient claim or two outpatient claims 30 days apart to define hereditary hemorrhagic telangiectasia. We examined frequencies of International Classification of Disease, 9th Revision, Clinical Modification codes for conditions that are complications of hereditary hemorrhagic telangiectasia among individuals with hereditary hemorrhagic telangiectasia and the general population to identify combinations of codes associated with hereditary hemorrhagic telangiectasia.

Results: Excluding observations from one state, the average prevalence of hereditary hemorrhagic telangiectasia was 0.3 per 10,000 persons. The reported prevalence rose with age from ~0.1 per 10,000 at ages <30 years to 1.0-1.1 per 10,000 at ages 70 years and above. The condition codes that were most specific to presumed hereditary hemorrhagic telangiectasia were lung arteriovenous malformations and upper gastrointestinal angiodysplasia. Combinations of those codes and codes for brain arteriovenous malformation and epistaxis were highly predictive of reporting of hereditary hemorrhagic telangiectasia, with 20-57% of enrollees with those codes also meeting the study definition for hereditary hemorrhagic telangiectasia.

Conclusion: Hereditary hemorrhagic telangiectasia is underrecognized in US administrative data. Administrative health data can be used to identify individuals with combinations of signs that are suggestive of hereditary hemorrhagic telangiectasia. Studies are needed to test the hypothesis that referral for evaluation of individuals with administrative records suggestive of undiagnosed hereditary hemorrhagic telangiectasia could lead to diagnosis and access to life-saving treatments for both them and affected family members.

MeSH terms

  • Age Factors
  • Databases, Factual*
  • Female
  • Humans
  • Insurance, Health
  • Male
  • Rare Diseases / diagnosis
  • Rare Diseases / epidemiology*
  • Risk Factors
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic / epidemiology*
  • United States