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      A case of recurrent massive pulmonary embolism in Klippel–Trenaunay–Weber syndrome treated with thrombolytics

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          Abstract

          Klippel – Trenaunay – Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism.

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          Klippel-Trenaunay-Weber syndrome.

          The Klippel-Trenaunay-Weber syndrome is characterized by the triad of a port-wine stain, varicose veins, and bony and soft-tissue hypertrophy of an extremity. Recognition is usually possible during infancy or early childhood, and evaluation and treatment is important because morbidity may be minimized. We will review the clinical features, etiology, assessment, and treatment of patients with Klippel-Trenaunay-Weber syndrome.
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            Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.

            We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t (5;11) (q13.3;p15.1)]. The patient has developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel-Trenaunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to 5q or 11p.
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              Recurrent pulmonary embolism associated with Klippel-Trenaunay-Weber syndrome.

              Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital disorder characterized by the triad of varicose veins, cutaneous hemangiomas, and hypertrophy of soft tissue and bone. We present the case of a woman with KTWS, cor pulmonale, and death due to recurrent pulmonary embolism (PE). The risk of deep venous thrombosis and PE in patients with KTWS is evaluated, and treatment recommendations are made with emphasis on the role of early, aggressive management in the subset of patients with KTWS known to have thromboembolic disease.
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                Author and article information

                Contributors
                Journal
                Respir Med Case Rep
                Respir Med Case Rep
                Respiratory Medicine Case Reports
                Elsevier
                2213-0071
                25 January 2016
                2016
                25 January 2016
                : 17
                : 68-70
                Affiliations
                [a ]Department of Pulmonary Medicine, Jamaica Hospital Medical Center, Jamaica, NY, United States
                [b ]Department of Internal Medicine, Jamaica Hospital Medical Center, Jamaica, NY, United States
                Author notes
                []Corresponding author. Jamaica Hospital Medical Center, 8900 Van Wyck Expressway, Jamaica, NY 11418, United States. ​Tel.: +1 (718) 206 6000; fax: +1 (718) 206 6787.Jamaica Hospital Medical Center8900 Van Wyck ExpresswayJamaicaNY11418United States drhinesh@ 123456gmail.com
                Article
                S2213-0071(16)30008-9
                10.1016/j.rmcr.2016.01.008
                4821330
                27141435
                648fb867-7a6c-4486-a621-b56e25404988
                © 2016 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 6 September 2015
                : 20 January 2016
                : 21 January 2016
                Categories
                Case Report

                klipell-trenaunay-weber,syndrome,venous thromboembolism,anticoagulation

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