Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)

Shreenidhi Ranganatha Subramaniam; Lam Fung Yeung; L Y Lois Choy; Jeffrey Sung Shing Kwok

doi:10.1002/ccr3.8517

Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)

Clin Case Rep. 2024 Feb 8;12(2):e8517. doi: 10.1002/ccr3.8517. eCollection 2024 Feb.

Authors

Shreenidhi Ranganatha Subramaniam^{1

2}, Lam Fung Yeung³, L Y Lois Choy^{1

2}, Jeffrey Sung Shing Kwok^{1

2}

Affiliations

¹ Department of Chemical Pathology Prince of Wales Hospital, Hospital Authority Hong Kong China.
² Department of Chemical Pathology The Chinese University of Hong Kong Hong Kong China.
³ Department of Medicine & Geriatrics Tai Po Hospital, Hospital Authority Hong Kong China.

Abstract

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.

Keywords: COL3A1; Ehlers‐Danlos syndrome; arterial dissection; case report; vascular Ehlers‐Danlos syndrome.

Publication types

Case Reports