PB1416 - Challenge in the investigation of patients with bleeding: Delayed diagnosis of Vascular Ehlers-Danlos Syndrome

Background: Vascular Ehlers-Danlos Syndrome (vEDS) is caused by a heterozygous mutation in the COL3A1 gene that encodes the pro-α1 chains of type III collagen, which attenuates the structural integrity of type III collagen-enriched tissues, such as skin, lung, liver, intestine, blood vessel and can result in fatal complications such as arterial rupture. The clinical diagnosis is often challenging.

Aims: To describe a late diagnosis, despite numerous previous vascular manifestations, with confirmation through the gene mutation COL3A1.

Methods: Descriptive analysis of the case

Results: Woman, 52 years old, with previous history of venous rupture during pregnancy at 27 y, submitted to varicose vein surgery without complication. At 40 y, she did another varicose vein surgery and developed deep venous thrombosis (DVT), treated with warfarin. She performed a third varicose vein surgery with rupture of the saphenous vein and received massive red cell transfusion, followed by another DVT. Due to complications in this surgery, an iliac stent was placed and the patient developed a new DVT in her leg with compartment syndrome (popliteal rupture suspicion) and was transfused again. As she started isolated progesterone for menopause symptoms, she had another DVT in her left leg and started rivaroxaban. She also had a hemothorax diagnosed after thoracic pain after physical activity, celiac trunk dissection diagnosed with CT scan due to abdominal pain, and a large hematoma due to a breast artery rupture, with subsequent aneurysm following a routine mammography. Due to this clinical presentation, the hypothesis of Vascular EDS was made and the COL3A1 gene mutation requested

Conclusion(s): Vascular EDS is an uncommon genetic disorder, with substantial allelic heterogeneity, that results from pathogenic variants in COL3A1. There is no consensus on the best practice for medical surveillance, medical or surgical intervention. In part, these limitations result from the rarity of the disorder and difficulty in assembling clinical data.