Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report).
- Resource Type
- Report
- Authors
- Subramaniam SR; Department of Chemical Pathology Prince of Wales Hospital, Hospital Authority Hong Kong China.; Department of Chemical Pathology The Chinese University of Hong Kong Hong Kong China.; Yeung LF; Department of Medicine & Geriatrics Tai Po Hospital, Hospital Authority Hong Kong China.; Choy LYL; Department of Chemical Pathology Prince of Wales Hospital, Hospital Authority Hong Kong China.; Department of Chemical Pathology The Chinese University of Hong Kong Hong Kong China.; Kwok JSS; Department of Chemical Pathology Prince of Wales Hospital, Hospital Authority Hong Kong China.; Department of Chemical Pathology The Chinese University of Hong Kong Hong Kong China.
- Source
- Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE
- Subject
- Language
- English
- ISSN
- 2050-0904
Patients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.
Competing Interests: None.
(© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)