Ehlers-Danlos syndrome, specifically EDS4, can be a dangerous condition. Clinicians should be aware of this when referring such patients for any interventional procedure. An MDT approach should be adopted to help plan perioperative treatment and care.
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| http://dx.doi.org/10.1002/ccr3.4090 | DOI Listing |
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A novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.
Forensic Sci Med Pathol
January 2025
Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax.
View Article and Find Full Text PDFTenascin-X deficiency causing classical-like Ehlers Danlos syndrome type 1 in humans is a significant risk factor for GI and tracheal ruptures.
Clin Transl Gastroenterol
January 2025
Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFHypermobile type Ehlers-Danlos syndrome and generalized hypermobile spectrum disorder treatment preferences - a cross-sectional survey of patients.
Rheumatol Int
January 2025
Department of Internal Medicine & Office of Research, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
We aimed to assess the typical experiences, desired outcomes, satisfaction with clinical and anticipated outcomes, and the importance of improvements for individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD). A cross-sectional survey was conducted among adults aged 18 and above with hEDS and G-HSD. The survey included the Patient-Centered Outcome Questionnaire and an adapted version addressing common concerns in these individuals.
View Article and Find Full Text PDFThe Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.
Mayo Clin Proc Innov Qual Outcomes
February 2025
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients.
Patients And Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients.
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
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