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

Abstract

Key Clinical Message 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

• arterial dissection
• case report
• COL3A1
• Ehlers‐Danlos syndrome
• vascular Ehlers‐Danlos syndrome