Ehlers–Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report
Abstract
A 19‐year‐old male patient was referred to our hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground‐glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper‐extensive and easily bruised skin. All these findings led to the suspicion of vascular Ehlers–Danlos syndrome (EDS). Genetic testing for the diagnosis of vascular EDS was performed and a heterozygous mutation in COL3A1 gene, c.1662+1G>A (IVS23(+1) G>A), was confirmed. Clinicians should consider vascular EDS as the differential diagnosis of cystic lung disease with recurrent pneumothorax.
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.