Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Autor: Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK. Jessica.Bowen4@nhs.net., Hernandez M; Health Economics and Decision Science, ScHARR, University of Sheffield, Regent Court, 30 Regent Street, Sheffield, S1 4DA, UK., Johnson DS; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Green C; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Kammin T; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Keigwin S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Makino S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Taylor N; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Watson O; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Wheeldon NM; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Sobey GJ; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK. Glenda.Sobey@nhs.net.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jul; Vol. 31 (7), pp. 749-760. Date of Electronic Publication: 2023 Mar 29.
DOI: 10.1038/s41431-023-01343-7
Abstrakt: The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue fragility affects multiple organ systems, increasing the risk of blood vessel dissection and rupture, with potentially fatal consequences. The diagnosis of vEDS has improved with advances in genetic testing, however this is most often suspected following an acute event. We provide data on the clinical features of vEDS for 180 patients (full cohort) seen in our service with confirmed molecular diagnoses. Increased awareness of this rare condition will prompt genetic testing essential to confirm the diagnosis. Outcomes are improved by early diagnosis followed by appropriate management. Fragile connective tissues make invasive procedures potentially dangerous, particularly in an emergency setting. Lifestyle advice from a young age can help acceptance and understanding of the diagnosis and inform choices. There is currently limited evidence for the use of drug therapy to reduce vascular events. We report on the incidence of vascular events in 126 patients (statistical analysis cohort) in our care and the use of medication. Our retrospective data showed that those patients on a long-term angiotensin II receptor blocker and/or beta-blocker had fewer vascular events than those not on cardiac medication who received the same lifestyle and emergency care advice.
(© 2023. The Author(s).)
Databáze: MEDLINE
Externí odkaz: