Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome. Reports of vascular complications in classical EDS are often limited to haematomas being the most frequent manifestation. This case report discusses an elderly patient with genetically confirmed classical EDS who suffered from a series of pulmonary and vascular complications, including recurrent spontaneous haemopneumothorax, aortic dissection and eventual mesenteric haemorrhage, which resulted in his death. Identifying clinical red flags is crucial to predict such future catastrophic vascular events and guide appropriate counselling and management strategies for individuals with classical EDS.
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http://dx.doi.org/10.1136/bcr-2024-260109 | DOI Listing |
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 PDFBMJ Case Rep
January 2025
Medical Department, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome.
View Article and Find Full Text PDFNephrol Dial Transplant
December 2024
Amsterdam UMC location University of Amsterdam, Department of Internal Medicine, section of Nephrology, Amsterdam, The Netherlands.
Background And Hypothesis: Kidney macrophage infiltration is a histological hallmark of vasculitic lesions and is strongly linked to disease activity in anti-neutrophil cytoplasmic antibodies (ANCA)-associated glomerulonephritis (AGN). The precise mechanisms by which kidney macrophages influence local inflammation and long-term damage remain largely unknown.
Methods: Here, we investigate kidney macrophage diversity using single-cell transcriptome analysis of 25 485 freshly retrieved unfrozen, high-quality kidney CD45+ immune cells from five AGN patients during active disease, a lupus nephritis and nephrectomy control.
Circulation
December 2024
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor. (E.D.S., Y.-C.T., B.E., A.B., O.M., S.S., A.S.H.).
Materials (Basel)
November 2024
Institute of General and Inorganic Chemistry, Bulgarian Academy of Sciences, Acad. G. Bontchev Str. Bl. 11, 1113 Sofia, Bulgaria.
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