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Concomitant Klippel-Trenaunay-Weber syndrome with pelvic arteriovenous malformation and May-Thurner syndrome: A rare presentation

Published:October 19, 2022DOI:https://doi.org/10.1016/j.amjms.2022.10.006

      Case presentation

      An 86-year-old man presented with edema of the left leg. He had a history of atrial fibrillation and chronic kidney disease. He had previously presented one year ago with left-sided leg edema, and contrast-enhanced computer tomography (CT) had revealed deep vein thrombosis (DVT) in his left leg and a stenosis of the left common iliac vein due to compression by the overlying right common iliac artery, known as May-Thurner syndrome (MTS). He had been admitted to our hospital, treated with anticoagulant therapy, and discharged with no remaining edema.
      Physical examination in this instance revealed a left leg edema. In addition, it revealed a right leg with port wine stain (Figure 1). The stain had been present since infancy, and the cause had never been diagnosed. Contrast-enhanced CT (Figure 2) revealed an arteriovenous malformation (AVM) in the pelvis (2-A, arrowheads) with a stenosis of the left common iliac vein (2-B, asterisk).
      Based on these findings, a final diagnosis of Klippel-Trenaunay-Weber syndrome (KTWS) was made. KTWS is a complex congenital disorder that historically has been defined as the triad of capillary malformation, venous malformation, and limb overgrowth.
      • Wassef M
      • Blei F
      • Adams D
      • et al.
      Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
      Cutaneous vascular stain is one of the key clinical features of KTWS. They are noted at birth and most commonly involve the lower extremity. In some cases, KTWS is accompanied by a pelvic AVM, which is usually present at birth, although it only becomes evident in childhood or early adulthood. AVM sometimes lead to active shunting, venous engorgement, and venous hypertension, thereby acting as a cause of leg edema in their own right.
      • Christenson BM
      • Gipson MG
      • Smith MT.
      Pelvic vascular malformations.
      This case was complicated by stenosis of the iliac vein. We hypothesized that the left leg edema was caused by a combination of a complication of the AVM and the stenosis of the left iliac vein. One previous report has been published on Klippel-Treneuneay syndrome complicated by MTS.
      • Lu T
      • de Grandis E
      • Gloviczki P
      • Glockner J
      • Shepherd RF.
      May-Thurner syndrome associated with Klippel-Trenaunay syndrome.
      The patient suffered from left leg edema, pain with exercise, a sensation of heaviness, and painful, unsightly varicose veins. Hormonal changes during puberty or pregnancy, thrombosis, infection or trauma may exacerbate AVM growth. In this case, the patient had a history of DVT affecting the left leg. Therefore, it may have acted as a trigger for the development of his AVM. The treatment of AVMs often involves a combination of embolization or occlusion of the outflow vein and sclerotherapy of the vascular nidus in symptomatic cases; however, our patient was treated conservatively in accordance with his wishes. We treated him with diuretic agents and elastic stockings.

      Conflicts of interest

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      Reference

        • Wassef M
        • Blei F
        • Adams D
        • et al.
        Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
        Pediatrics. 2015; 136: e203-e214
        • Christenson BM
        • Gipson MG
        • Smith MT.
        Pelvic vascular malformations.
        Semin Intervent Radiol. 2013; 30: 364-371
        • Lu T
        • de Grandis E
        • Gloviczki P
        • Glockner J
        • Shepherd RF.
        May-Thurner syndrome associated with Klippel-Trenaunay syndrome.
        Perspect Vasc Surg Endovasc Ther. 2012; 24: 155-160