A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
| Autor: | Karen Woo, Ellen S. Regalado, Dianna M. Milewicz, Devin S. Zarkowsky, Giovanni De Caridi, Frank M. Davis, Melanie Pepin, Erin M. Miller, Richard J. Powell, Kristofer M. Charlton-Ouw, Kelli L. Hicks, K. Nicole Weaver, Christian-Alexander Behrendt, Sherene Shalhub, Maurício Serra Ribeiro, Dawn M. Coleman, Gustavo S. Oderich, Cole Nishikawa, Peter F. Lawrence, Katie E. Shean, E. Sebastian Debus, Yskert von Kodolitsch, Peter H. Byers, Marc L. Schermerhorn |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
DNA Mutational Analysis Disease 030204 cardiovascular system & hematology 0302 clinical medicine Risk Factors Germany Vascular genetic testing 030212 general & internal medicine Family history medicine.diagnostic_test Middle Aged Prognosis Vascular Ehlers-Danlos syndrome Phenotype Italy Cohort Female Cardiology and Cardiovascular Medicine Adult medicine.medical_specialty Adolescent COL3A1 mutation Heritable arteriopathies Risk Assessment Article Diagnosis Differential 03 medical and health sciences Young Adult Predictive Value of Tests Internal medicine medicine Humans Genetic Predisposition to Disease Genetic testing Retrospective Studies business.industry Retrospective cohort study medicine.disease United States Collagen Type III Cross-Sectional Studies Ehlers–Danlos syndrome Clinical diagnosis Skin biopsy Mutation COL3A1 mutation Heritable arteriopathies Vascular Ehlers-Danlos syndrome Vascular genetic testing Surgery Ehlers-Danlos Syndrome business |
| Zdroj: | J Vasc Surg |
| Popis: | OBJECTIVE. Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and one of 13 types of Ehlers-Danlos syndrome (EDS). The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. METHODS. This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases (ICD)-9 and 10-CM codes for EDS (756.83 and Q79.6). Review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two cohorts and then compared: those with pathogenic COL3A1 variants and those diagnosed by clinical criteria alone without molecular confirmation. RESULTS. Eleven institutions identified 173 (35.3% male, 56.6% Caucasian) individuals with vEDS. Of those, 11 (9.8%) had non-pathogenic alterations in COL3A1 and were excluded from the analysis. Among the remaining individuals, 86 (47.7% male, 68% Caucasian, 48.8% positive family history) had pathogenic COL3A1 variants and 76 (19.7% male, 19.7% Caucasian, 43.4% positive family history) were diagnosed by clinical criteria alone without molecular confirmation. Compared to the cohort with pathogenic COL3A1 variants, the clinical diagnosis only cohort had a higher number of females (80.3% vs. 52.3%, P |
| Databáze: | OpenAIRE |
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