Exploring the Hemorrhagic Manifestations of an Adolescent With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case Report
Abstract
A 15-year-old female patient presented with recurrent episodes of hematemesis over six months, with no identifiable source on initial evaluations, including upper gastrointestinal (GI) endoscopy and abdominal angiography. Despite a thorough workup for bleeding diatheses, the etiology remained elusive until whole-genome sequencing revealed a homozygous mutation in the ADAMTS2 gene, confirming Ehlers-Danlos syndrome (EDS), dermatosparaxis type (dEDS). Although bleeding is more common in vascular EDS, recurrent GI bleeding in this patient likely resulted from vessel wall weakness and defective collagen processing associated with dEDS. Management included celiprolol, vitamin C, multivitamins, and multidisciplinary follow-up. This case underscores the importance of genetic testing in diagnosing atypical connective tissue disorders and highlights a multidisciplinary approach for managing complex cases with recurrent, unexplained bleeding.
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.