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Correlating clinical findings with genetic testing results in patients with concern for connective tissue disorders - a retrospective chart review

Oberschmidt, Rebecca A (2023) Correlating clinical findings with genetic testing results in patients with concern for connective tissue disorders - a retrospective chart review. Master's Thesis, University of Pittsburgh. (Unpublished)

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Connective tissue disorders (CTD) are a group of conditions that specifically impact proteins in the tissues that hold the body together. Some of these conditions have an established genetic etiology or identified associated gene. Of note, there is no identified molecular etiology for either hypermobile Ehlers Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), and the diagnosis of these is based on clinical and laboratory findings. There is limited information available to determine subsets of patients who would benefit most from genetic testing. Primary care clinicians may be the first to recognize symptoms in hEDS/HSD patients, and they often play an important role in these patients’ care. The UPMC Primary Care Precision Medicine Clinic (PCPM) began seeing patients in 2019, and a significant portion of their patients are referred for concern for a connective tissue disorder. A retrospective chart review of genetic testing results and clinician notes in the electronic medical record (EMR) was completed on 135 patients evaluated by PCPM between 2019 and 2022. The goal of the study was to evaluate if any clinical findings are associated with genetic testing outcomes or final diagnoses. Data show 37% (n=50) of patients were diagnosed with hEDS. One patient received a Marfan syndrome diagnosis, one patient received a Loeys-Dietz syndrome diagnosis, and one has a potential Brittle Cornea syndrome diagnosis. The gene with the most identified variants was TNXB (n=12). 38% (n=51) of patients were referred by primary care providers. Findings with a statistically significant relationship to hEDS included Beighton score, papyraceous or hemosideric scars, arachnodactyly, joint dislocations and subluxations, allergies/mast cell abnormalities, poor wound healing, and Raynaud’s. There were several findings related to variants in fTAAD genes in addition to findings in autosomal dominantly inherited genes in general. We conclude that performing genetic testing on any individual with concern for CTD is warranted to rule out conditions with known genetic causes such as Loeys Dietz syndrome and Marfan syndrome. This data could be used in the future to educate primary care providers on CTDs and genetic testing for these disorders which are relatively common in the general population.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Oberschmidt, Rebecca Arao23@pitt.edurao23
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairBerman,
Committee MemberMassart, Mylyndambm66@pitt.edumbm66
Committee MemberMunro, Christine
Committee MemberShaffer, Johnjohn.r.shaffer@pitt.edujohn.r.shaffer
Date: 11 May 2023
Date Type: Publication
Defense Date: 31 March 2023
Approval Date: 11 May 2023
Submission Date: 26 April 2023
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 78
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: connective tissue disorder, EDS, Ehlers Danlos Syndrome, HSD, Hypermobility Spectrum Disorder, Marfan Syndrome, Loeys Dietz Syndrome, Genetic testing, Genetics, Primary Care, Precision Medicine, Chart Review, TNXB, Clinical Diagnosis, Molecular Diagnosis
Date Deposited: 11 May 2023 16:20
Last Modified: 11 May 2023 16:20


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