Vascular Fragility
The petechiae and purpura in vascular Ehlers-Danlos syndrome are clinical signs of vascular fragility (Option B), not platelet dysfunction, thrombocytopenia, or acquired antibodies.
Pathophysiology of Bleeding Manifestations in Vascular EDS
The bleeding manifestations in vascular EDS stem directly from structural weakness of blood vessel walls due to defective type III collagen synthesis. 1
Vascular EDS is caused by mutations in COL3A1, which encodes type III collagen—a critical structural component of blood vessel walls and perivascular connective tissues. 1
The fragility of vessel walls and perivascular tissues is the primary mechanism underlying petechiae, purpura, and other bleeding manifestations in vascular EDS, rather than any intrinsic defect in platelet function or number. 1
Easy bruising occurs to a variable degree in all EDS subtypes, but the mechanism is consistently related to connective tissue and vascular wall fragility rather than hematologic abnormalities. 1
Clinical Context and Diagnostic Implications
Understanding that these bleeding signs reflect vascular fragility rather than coagulopathy is critical for appropriate management:
Vascular EDS carries catastrophic risk with a median survival of only 48-51 years, with arterial rupture as the leading cause of death. 2
Invasive procedures including catheter angiography can be fatal in vascular EDS patients due to the extreme vessel fragility, making genetic confirmation essential before any invasive intervention. 2, 3
Surgical interventions carry extremely high mortality due to tissue fragility, bleeding tendency from fragile vessels, and poor wound healing—all manifestations of the underlying connective tissue defect rather than platelet or coagulation abnormalities. 2
Key Clinical Pitfall to Avoid
Do not pursue hematologic workup for thrombocytopenia or platelet function defects when vascular EDS is suspected based on clinical features, as this delays appropriate genetic testing and vascular surveillance. 4
Recognize that bleeding complications during surgery require meticulous tissue handling and pledgeted sutures rather than platelet transfusions or correction of coagulation parameters. 5, 2