Giant uterus in a patient with Klippel-Trenaunay syndrome. Report of a case

Abstract

Introduction: Klippel-Trenaunay syndrome is an uncommon congenital disease also called angio-osteodystrophy syndrome for its typical disorders characterized by abnormal growth of the soft tissues and bones and vascular malformations. Case report: In this report, we present a rare case of a 46-year-old nulliparous woman with Klippel-Trenaunay syndrome. She suffered from an abnormal uterine bleeding accompanied by severe anemia with need for multiple blood transfusions. At the time of admission, physical examination revealed port-wine stains and varicose veins on her lower limbs and hypertrophy of left lower extremity. We carried out an open bilateral hysteroannexectomy. Histopathology examination revealed a uterus weighing 6300 g with diffuse abnormal vasculature, leiomyomatosis and diffuse venous malformation. Discussion: Klippel-Trenaunay syndrome is considered a rare disease as it has an incidence of 2–5 on 100,000 with no differences between the both sexes. The clinical manifestations are related to the organs involved in the pathological angiogenesis therefore patients may also present cerebral, retinal, gastrointestinal and genitourinary anomalies with consequent occult or significant bleeding. Uterine involvement is very rare. The main clinical manifestations are represented by irregular episodes of hematuria and/or menometrorrhagia associated with important anatomical anomalies of the female reproductive system. Conclusion: Uterine involvement in patients with Klippel-Trenaunay syndrome, althought rare and with extremely variable clinical manifestations, is actually a relevant event that not only significantly affects the reproductive capacity of the woman but which potentially puts patients' lives at risk because of an unpredictable bleeding.