Ehlers-Danlos syndrome (EDS) encompasses a heterogeneous group of inherited connective tissue disorders caused by defects in collagen. It affects the skin, joints, and blood vessels leading to skin hyper-extensibility, fragility, bruisability, poor wound healing, joint hypermobility, and chronic joint pain. Type 4 is autosomal dominant. Bruisability is a prominent feature, but other classic manifestations are often less severe. However, it is considered the most malignant form, as patients are at risk for spontaneous rupture of bowel and large arteries. Carotid-cavernous sinus fistula occurs in 10% of patients; sudden blurred vision and ocular pain occur. Rapid intervention is needed to preserve the patient's vision.
ICD10CM: Q79.63 – Vascular Ehlers-Danlos syndrome
SNOMEDCT: 17025000 – Ehlers-Danlos Syndrome, Type 4
Differential Diagnosis & Pitfalls
Loeys-Dietz syndrome (typically includes cleft palate and bifid uvula, which Ehlers-Danlos syndrome does not)
Arterial tortuosity syndrome (can test for abnormalities in SLC2A10 gene)