Epidemiology and Clinical Characteristics of Ehlers-Danlos Syndrome

Introduction to Ehlers-Danlos Syndrome

The European Society of Cardiology recommends that Ehlers-Danlos syndrome (EDS) is estimated to occur in approximately 1 in 5,000 live births, with the vascular type IV accounting for around 5-10% of all cases, and a prevalence ranging from 1 in 100,000 to 1 in 250,000 people 1, 2

All types of EDS combined occur with a frequency of approximately 1 in 5,000 to 1 in 10,000 live births 1, 3, 4
The vascular type IV has an estimated prevalence between 1 in 100,000 and 1 in 250,000 2

The European Heart Society notes that hypermobile EDS is characterized by joint hypermobility, with a Beighton score of ≥5/9 5
The European Society of Cardiology recommends that patients with EDS have hyperextensible and fragile skin, easy bruising, and impaired wound healing 1, 3

The European Society of Human Genetics states that vascular type IV EDS is inherited in an autosomal dominant pattern 1, 3
Approximately 25% of Marfan syndrome cases (a related disorder) result from spontaneous mutations 4

The American College of Obstetricians and Gynecologists recommends that pregnancy in women with vascular type IV EDS significantly increases the risk of uterine or vascular rupture 1, 3
Most women with known vascular type EDS undergo cesarean delivery 6
Postpartum hemorrhage should be expected 1, 3
Vascular ruptures can occur during pregnancy 1, 3
The European Society of Cardiology notes that surgical procedures in patients with EDS are associated with significant risks due to tissue fragility 6
Wounds heal slowly, and it is recommended to use retaining sutures and not remove them for a longer period than usual 1, 3
Antibiotic prophylaxis should be extended until suture removal 1, 3
Invasive vascular procedures are contraindicated due to the risk of fatal complications 6, 5
The European Society of Human Genetics recommends that hypermobile EDS should not be diagnosed without genetic testing to exclude alternative diagnoses, as 26.4% of clinically diagnosed cases had alternative genetic conditions 5
Invasive diagnostic angiography is contraindicated in patients with vascular collagen disorders 6, 5