A 39-year-old woman with atypical variant of Klippel-Trénaunay syndrome and progressive thromboembolic pulmonary hypertension, successfully treated by pulmonary thromboendarterectomy (RCD code: II-1A.5)

Małgorzata Poręba, Marcin Misztal, Andrzej Biederman, Agnieska Skrzypek, Piotr Szatkowski, Ewelina Pirsztuk, Danuta Czernecka-Mroczek, Andrzej Gackowski, Jadwiga Nessler

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Abstract


We present a case of 39-year old female with Klippel-Trenaunay syndrome (KTS) complicated by chronic thromboembolic pulmonary hypertension (CTEPH). Our patient was operated in adolescence by vascular surgeons and severe varicosities of her leg were excised. After second pregnancy she manifested pulmonary embolism (PE) and was treated with vitamin K antagonists (VKA) and implantation of vena cava filter. Despite chronic VKA therapy she developed pulmonary embolism again. We present our TTE studies, X-ray and CT scans confirming diagnosis of pulmonary hypertension. Because of worsening of her cardiopulmonary status she was send to Cardiac Surgery Department and underwent pulmonary thromboendarterectomy. Extensive quantities of chronic thromboembolic material were cut out from both pulmonary arteries. At one year follow-up her functional status returned to NYHA class I. Control TTE demonstrated normal diameter and function of her right cardiac chambers.

We conclude that vascular anomalies existing in KTS although present locally are responsible for general hypercoagulability. We also wonder what should be proper treatment and which diagnostic tests should be perform to prevent from severe thromboembolic pulmonary hypertension. JRCD2013; 1 (2): 25–32

Key words: Klippel–Trénaunay syndrome, chronic thromboembolic pulmonary hypertension, pulmonary endartherectomy

Keywords


Klippel–Trénaunay syndrome; chronic thromboembolic pulmonary hypertension; pulmonary endartherectomy

References


http://emedicine.medscape.com/article/1084257-clinical#a0216

Oduber CE, Gerdes VE, van der Horst CM, Bresser P. Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension. J Plast Reconstr Aesthet Surg. 2009; 62(5): 684–689; discussion 689.

Douma RA, Oduber CE, Gerdes VE, et al. Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2012; 66(1): 71–77.

Mikula N Jr, Gupta SM, Miller M, Felder S. Klippel-Trenaunay-Weber syndrome with recurrent pulmonary embolism. Clin Nucl Med. 1991; 16(4): 253–255.

Karalezli A, Sevgili S, Ernam Turgut D, et al. Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. Tuberk Toraks. 2006; 54(3): 281–287.

Aggarwal K, Jain VK, Gupta S, et al. Klippel-Trenaunay syndrome with a life-threatening thromboembolic event. J Dermatol. 2003; 30(3): 236–240.

Walder B, Kapelanski DP, Auger WR, Fedullo PF. Successful pulmonary thromboendarterectomy in a patient with Klippel-Trenaunay syndrome. Chest 20 0 0; 117(5): 1520 –1522.

Gianlupi A, Harper RW, Dwyre DM, Marelich GP. Recurrent pulmonary embolism associated with Klippel-Trenaunay-Weber syndrome. Chest 1999; 115(4): 119 9 –12 01.

Klippel M, Trenaunay P. Du naevus variqueux et osteohypertrophique. Arch Gen Med 1900; 3: 641–672.

Usoh F, Hingorani A, Ascher E, et al. Long-term follow-up for superior vena cava filter placement. Ann Vasc Surg. 2009; 23(3): 350–354.

Funayama E, Sasaki S, Oyama A, et al. How do the type and location of a vascular malformation influence growth in Klippel-Trénaunay syndrome J Plast Reconstr Surg. 2011; 127(1): 340–346.

Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology 2007; 22(6): 291–298.

Loose D. The Hamburg Classification of congenital vascular defects. Przegląd Flebologiczny 2005; 13: 91–97.

Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998; 73(1): 28–36.

http://emedicine.medscape.com/article/300901-overview#showall

Ozsu S, Oztuna F, Bulbul Y, et al. The role of risk factors in delayed diagnosis of pulmonary embolism. Am J Emerg Med. Jan 2011; 29(1): 26–32.

Wieteska M., Biederman A., Torbicki A. Chronic thromboembolic pulmonary hypertension: epidemiology, pathogenesis and natural history. Hematologia 2010; 1(2): 136–141.

Stein PD, Matta F, Musani MH, Diaczok B. Silent pulmonary embolism in patients with deep venous thrombosis: a systematic review. Am J Med. 2010; 123(5): 426–431.

Aujesky D, Jiménez D, Mor MK, et al. Weekend versus weekday admission and mortality after acute pulmonary embolism. Circulation 2009; 119: 962–968.

Torbicki A, Perrier A, Konstantinides S, et al.; ESC Committee for Practice Guidelines (CPG). Guidelines on the diagnosis and management of acute pulmonary embolism: the Task Force for the Diagnosis and Management of

Acute Pulmonary Embolism of the European Society of Cardiology (ESC) Eur Heart J. 2008; 29(18): 2276–2315.

Galiè N, Hoeper MM, Humbert M et al. Guidelines for the diagnosis and treatment of pulmonary hypertension: The Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of

Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009; 30: 2493–2537.

Hoeper MM, Mayer E, Simonneau G, Rubin LJ. Chronic thromboembolic pulmonary hypertension. Circulation 2006; 113: 2011–2020.

Moser KM, Fedullo PF, Littejohn JK, Crawford R. Frequent asymptomatic pulmonary embolism in patients with deep venous thrombosis. JAMA 1994; 271: 223–225.

Lewczuk J., Piszko P., Jagas J., et al. Prognostic factors in medically treated patients with chronic pulmonary embolism. Chest 2001; 119: 818–823.

Huiras EE, Barnes CJ, Eichenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. 2005; 116(4): e596–600.

Tokuda A, Kamioka E, Sasaki A, et al. [A case of Klippel-Trenaunay-Weber syndrome associated with progressive pulmonary hypertension]. Nihon Kokyuki Gakkai Zasshi. 2011; 49(11): 867–872.

Burbelko M, Kalinowski M, Wagner HJ. [Rare cause of chronic recurrent pulmonary emboli and pulmonary artery hypertension] Dtsch Med Wochenschr. 2006; 131(15): 811–814.

Skourtis G, Lazoura O, Panoussis P, Livieratos L. Klippel-Trenaunay syndrome: an unusual cause of pulmonary embolism. International angiology: a Journal of the International Union of Angiology 2006; 25 (3): 322–326.

Macleod AJ, Nichols DM, Franklin D. Pulmonary embolism in Klippel-Trénaunay syndrome of the upper limb. J R Soc Med. 1998; 91(10): 542–543.

Muluk SC, Ginns LC, Semigran MJ, et al. Klippel-Trénaunay syndrome with multiple pulmonary emboli–an unusual cause of progressive pulmonary dysfunction. J Vasc Surg. 1995; 21(4): 686–690.

Kocaman O, Alponat A, Aygün C, et al. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klippel-Trenaunay syndrome: a case report and literature review. Turk J Gastroenterol. 2009; 20(1): 62–66.

Wilson CL, Song LM, Chua H, et al. Bleeding from cavernous angiomatosis of the rectum in Klippel-Trenaunay syndrome: report of three cases and literature review. Am J Gastroenterol. 2001; 96(9): 2783–2788.

Schmitt B, Posselt HG, Waag KL, et al. Severe hemorrhage from intestinal hemangiomatosis in Klippel-Trenaunay syndrome: pitfalls in diagnosis and management. J Pediatr Gastroenterol Nutr. 1986; 5(1): 155–158.

D’Amico JA, Hoffman GC, Dyment PG. Klippel-Trenaunay syndrome associated with chronic disseminated intravascular coagulation and massive osteolysis. Cleve Clin Q. 1977; 44: 181–188.

Awad AN, Yang D, Girgis M, et al. Evaluation of Klippel-Trenaunay syndrome with radionucleotide total-body angiography: a case report. Clin Nucl Med. 1992; 17: 866–870.

Mazoyer E, Enjolras O, Laurian C, et al. Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kasabach-Merritt syndrome. Clin Lab Haematol 2002; 24: 243–251.

Stone DH, Adelman MA, Rosen RJ, et al. A unique approach in the management of vena caval thrombosis in a patient with Klippel-Trenaunay syndrome. J Vasc Surg. 1997; 26: 155–159.

Mohammad Iqbal Zea, Mohammad Hanif, Mohammad Habib, and Ahmed Ansari. Klippel-Trenaunay Syndrome: a case report with brief review of literature J Dermatol Case Rep. 2009; 3(4): 56–59.

Liam D., Spence MD, Michael G., et al. Acute Upper Extremity Deep Venous Thrombosis: Safety and Effectiveness of Superior Vena Caval Filters. Radiology 1999; 210: 53–58.

Cipolla J, et al. Complications of vena cava filters: A comprehensive clinical review. OPUS 12 Scientist 2008; 008; 2(2).




DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no2.79

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