Ehlers-Danlos Syndrome Type IV - Anaesthetic Considerations
Abstract
Ehlers-Danlos syndrome (EDS) is a rare disorder that occurs due to genetic defect in the collagen synthesis. The vascular subtype of EDS (type IV) is defined by characteristic facial features, translucent skin, easy bruising, and spontaneous arterial rupture and visceral perforation of such organs as the uterus and intestines, with possible life-threatening consequences. We report a case of a 15-year-old male patient with no past medical history undergoing emergency laparotomy after a spontaneous sigmoid colon perforation. Post-operatively and during the ICU stay complications developed and several revision operations and invasive procedures were necessary. A chest CT angiography revealed a right subclavian artery aneurysm, which was treated by an endovascular stent grafting. Taking into consideration the family history and clinical presentation EDS type IV was discussed as a possible cause of the patient's condition. DNA analysis confirmed the diagnosis. Due to the lack of evidence-based recommendations the anaesthetic management of these patients is still challenging.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices
- The Escherichia coli MG1655 in silico metabolic genotype: Its definition, characteristics, and capabilities
- In silico pharmacology for drug discovery: methods for virtual ligand screening and profiling
- In silico prediction of splice-altering single nucleotide variants in the human genome
- In silico clinical trials: how computer simulation will transform the biomedical industry
- In silico optimization of a guava antimicrobial peptide enables combinatorial exploration for peptide design
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.