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Evidence

Big Data Analytics to Estimate Prevalence of Ehlers-Danlos Syndrome (Vascular Phenotype) and Rate of Rupture Events

Date: 07/12/2019

Poster presented at: NORD Rare Diseases and Orphan Products Breakthrough Summit

Location and date: Washington, D.C.; October 15-16, 2018

Authors: Tara Grabowsky, Mike Bassett, Theresa Arndt, Jeremy Paige, Chris Schelling

Objectives:

  • To improve the understanding of EDS-VP prevalence.
  • 1,500 EDS-VP patients have been identified based biochemical or genetic testing. However, many patients may die before being diagnosed.
  • Estimated prevalence is 1:200,000 – 1:50,000, but these numbers lack supportive real-world evidence.

Conclusions:

  • This study assessed the prevalence and clinical burden of EDS-VP in the United States. Using big data claims analyses and EDS-VP-associated event criteria, we identified a presumed EDS-VP population based on phenotypic presentation.
  • Our EDS-VP prevalence estimates are slightly higher than those reported for genotypically-confirmed cases of COL3A1 mutation carriers. Therefore, we may be capturing some additional phenotypically similar subtypes of EDS or those due to mutations other than COL3A1.
  • Demographics of our population were similar to prior reports.
  • The rate of arterial and organ ruptures along with percentage of these events requiring invasive interventions reflects a high clinical burden for these patients.
  • Coupled with previously published estimates that 25% of EDS-VP patients experience a major complication by age 20 years and 80% by 40 years, it is imperative that comprehensive efforts are geared towards early detection and diagnosis.
  • Future studies using electronic medical records, genetic analysis, and specialty lab data should be leveraged to confirm and advance these findings.

Big Data Analytics to Estimate Prevalence of Ehlers-Danlos Syndrome (Vascular Phenotype) and Rate of Rupture Events

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