Ehlers-Danlos Syndrome

A question about Ehlers-Danlos syndrome from Dr. John McClure:
I was asked by a hematology colleague about bleeding risk in an Ehlers-Danlos patient.  He was consulted for a preoperative assessment.  The patient has a “self-reported” history of bleeding but has undergone uneventful lap-chole and vaginal deliveries. My colleague is specifically asking about the PFA 100 to screen for platelet functional defects. I’m not sure how to direct him.  I predict that her risk is “pretty low” based on history.  I also guess that the bigger risk in these patients is vascular integrity which is largely beyond our control. Any thoughts on preoperative screening for these patients?  What test?  Worthwhile?  Thoughts on a plan B if surgery becomes problematic? Thanks, John McClure.

Thank you for your question, Dr. McClure. Ehlers-Danlos syndrome is a rare heterogenous autosomal dominant collagen-vascular disease resulting from one of several mutations of the COL3A1 gene (Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 2002;16: 391-7). Ehlers-Danlos associates with moderate mucocutaneous bleeding traceable to weak collagen type III with no specific platelet or coagulation disorder (de Paepe A. The Ehlers-Danlos syndrome; a heritable collagen disorder as a cause of bleeding. Thromb Haemost 1996; 91: 2282-8).

There is a range of severity, and people with severe Ehlers-Danlos syndrome risk arterial rupture and intestinal perforation. Pregnancy is risky and miscarriages are common.

Diagnosis is made from facial features, thin “cigarette-paper” skin and hyperextensible joints and may be confirmed by collagen biochemistry and molecular studies. No platelet or coagulation screen will detect Ehlers-Danlos except for the bleeding time test, which is presumably prolonged by connective tissue disorders but has inherently poor predictive value and has been deservedly eliminated from most laboratory menus.

I hope this is helpful