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Application of the 2017 Classification Criteria for Hypermobile Ehlers-Danlos Syndrome to Previously Diagnosed Pediatric Patients

White, Lori
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166693576443

Abstract Details

2021, MS, University of Cincinnati, Medicine: Genetic Counseling.
Objectives The objective of this study was to quantify the proportion of pediatric patients previously diagnosed with EDS hypermobility type using the Villefranche nosology who, upon reassessment, met the 2017 hEDS criteria. Understanding this proportion serves as a first step in predicting if using the 2017 hEDS criteria for the diagnosis of hEDS will result in the desired increase in specificity needed to differentiate hEDS from other types of joint hypermobility and to reduce phenotypic heterogeneity in the hEDS population. Methods This retrospective cohort study included pediatric patients diagnosed with hypermobility-type EDS using the 1997 Villefranche nosology and subsequently assessed using the 2017 hEDS criteria. Patients diagnosed with hEDS or joint hypermobility were excluded if there was no documentation of re-evaluation using the 2017 hEDS criteria or having documentation of a different diagnosis. Demographic and clinical data was extracted from the remaining patient records that met inclusion criteria for this study. Continuous data were summarized as means and standard deviations, and categorical data were summarized as frequencies and percentages. We performed the following testing for association of outcome with 1) biologic sex; 2) age at diagnosis and age at reassessment; 3) puberty status for females; and 4) criteria features. The association of outcome with puberty status for females was performed by 3-pairwise tests. Associations were assessed using the Chi-square, Fisher’s exact, or t-test. Results Of the pediatric patients (n=124) originally diagnosed with hEDS using the Villefranche criteria and reassessed using the 2017 hEDS Criteria, 41.9% (52 of 124) met the new criteria. Females were more likely to meet the 2017 hEDS criteria than males; female and male patients diagnosed at an older age and reassessed at an older age were more likely to meet the 2017 hEDS criteria; females who were pubertal at diagnosis and reassessment were 12.9 times more likely to meet the 2017 hEDS criteria than females who were pre-pubertal at diagnosis and at reassessment, and 4.7 times more likely to meet the 2017 hEDS criteria than females who were pre-pubertal at diagnosis and pubertal at reassessment. Features that correlated with meeting the 2017 criteria include generalized joint hypermobility; unusually soft, velvety skin; unexplained striae distensae; bilateral piezogenic papules of the heel; atrophic scarring; dental crowding and high, narrow palate; arachnodactyly; having a positive family history; experiencing musculoskeletal pain in two or more limbs daily for more than 3 months; and having recurrent joint dislocations or frank instability. Conclusion Application of the 2017 hEDS criteria to assess pediatric patients previously diagnosed using the 1997 Villefranche criteria resulted in a 58.1% reduction in patients meeting the clinical diagnosis for hEDS. Further analysis of these data indicated that the 2017 hEDS criteria may have greater sensitivity in older pediatric patients, and future studies exploring how age, sex, and puberty status influence the natural history of the disease may help determine if deferring diagnosis until adulthood using the 2017 hEDS criteria is appropriate for younger patients with hypermobility spectrum disorders.
Carrie Atzinger, M.S. C.G.C. (Committee Chair)
Melodie Blacklidge, M.D. (Committee Member)
Jodie Johnson, M.S. C.G.C. (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
Tracy Ting, M.D. (Committee Member)
31 p.
Genetics
Ehlers-Danlos syndrome, hypermobility, pediatric,

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Citations

  • White, L. (2021). Application of the 2017 Classification Criteria for Hypermobile Ehlers-Danlos Syndrome to Previously Diagnosed Pediatric Patients [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166693576443

    APA Style (7th edition)

  • White, Lori. Application of the 2017 Classification Criteria for Hypermobile Ehlers-Danlos Syndrome to Previously Diagnosed Pediatric Patients. 2021. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166693576443.

    MLA Style (8th edition)

  • White, Lori. "Application of the 2017 Classification Criteria for Hypermobile Ehlers-Danlos Syndrome to Previously Diagnosed Pediatric Patients." Master's thesis, University of Cincinnati, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166693576443

    Chicago Manual of Style (17th edition)

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This open access ETD is published by University of Cincinnati and OhioLINK.