Two case presentations of profound labial edema as a presenting symptom of hypermobility-type Ehlers-Danlos syndrome.

INTRODUCTION: Hypermobility-type Ehlers-Danlos syndrome (EDS), an often-missed diagnosis with the potential for serious sequelae, may have a variety of uncommon presentations, some of which may be gynecologic.

AIM: The aim of this case report is to present two cases of profound labial edema associated with intercourse as a presenting symptom of hypermobility-type EDS.

METHODS: A 25-year-old female presented with severe labia minora swelling and bladder pressure associated with intercourse, in addition to persistent genital arousal. History revealed easy bruising, joint pain, and family history of aneurysm. A 22-year-old female presented with intermittent profound labial swelling for 6 years, associated with sensitivity and pain with intercourse. The patient has a history of joint pain and easy bruising, as well a sister with joint hypermobility and unexplained lymphedema. The presenting symptom of profound labial edema led to the diagnosis of hypermobility-type EDS.

RESULTS: Patients with hypermobility syndrome exhibit an increased ratio of type III collagen to type I collagen, causing tissue laxity and venous insufficiency. Abnormal collagen may lead to gynecologic manifestations, including unexplained profound labial edema, pelvic organ prolapse in the absence of risk factors, and possibly persistent genital arousal.

CONCLUSIONS: This case report highlights the need for further research to determine incidence of labial edema in hypermobility-type EDS and to further elucidate a potential correlation between profound labial edema and collagen disorders.