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The Value of a Genetics Evaluation for Patients with Suspected Ehlers-Danlos Syndrome or Other Possible Connective Tissue Disorder

  • Author(s): Ihinger, Jacqueline Marie
  • Advisor(s): Smith, Moyra
  • et al.
Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders (CTDs) characterized by hyperflexibility, skin hyperextensibility, and tissue fragility. As recently as 2017, the International EDS Consortium published a new classification system with diagnostic criteria for thirteen different subtypes of EDS [Malfait et al., 2017]. The genetic etiology is known for all subtypes except hypermobile EDS (hEDS) which relies on clinical diagnostic criteria for diagnosis. Many patients are referred to the Genetics specialty for evaluation for EDS or other possible CTD. This study consisted of a retrospective chart review of referrals and Genetics consultation notes at one adult Genetics clinic to determine what types of providers are referring patients to the Genetics specialty, what types of evaluations (either imaging or evaluations by other specialties) patients are undergoing prior to seeing Genetics to further clarify if they may have a possible CTD, and what recommendations Genetics is making for these patients following evaluation. This study also compared patients who were self-referred and those who were referred by a provider and found there was no difference in the number of evaluations done prior to seeing Genetics nor the recommendations made after seeing Genetics. This study demonstrated that there is value in a Genetics evaluation for EDS or other CTDs because patients are discussing more clinical features with Genetics providers, geneticists provide a comprehensive exam across all systems of the body, and genetic counselors are uniquely qualified to provide supportive counseling, education, and resources this patient population needs.

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