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

Scott D. Grosse PhD,

Sheree L. Boulet DrPH, MPH,

Althea M. Grant PhD,

Mary M. Hulihan MPH

& Marie E. Faughnan MD

Affiliations

Corresponding author

Genetics in Medicine

(2013)

doi:10.1038/gim.2013.66

Received: 20 December 2012
Accepted: 16 April 2013
Published online: 23 May 2013

Abstract

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 1.0="" 10="" 20="" 70="" above.="" ages="" also="" and="" angiodysplasia.="" arteriovenous="" at="" brain="" codes="" combinations="" condition="" definition="" enrollees="" epistaxis="" for="" gastrointestinal="" hemorrhagic="" hereditary="" highly="" lung="" malformation="" malformations="" meeting="" most="" of="" p="" per="" predictive="" presumed="" reporting="" specific="" study="" telangiectasia.="" telangiectasia="" that="" the="" those="" to="" upper="" were="" with="" years="">

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.

Genet Med advance online publication 23 May 2013

View full text

Keywords:

administrative data; epidemiology; Osler–Weber–Rendu disease; prevalence

Author information

Affiliations

Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
- Scott D. Grosse,
- Althea M. Grant &
- Mary M. Hulihan

Division of Reproductive Health, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
- Sheree L. Boulet

Toronto HHT Centre, Division of Respirology, Department of Medicine, St Michael’s Hospital, University of Toronto, Toronto, Ontario, Canada
- Marie E. Faughnan