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Vol 25, No 2 (2019)
Case report
Published online: 2019-05-23

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Klippel-Trenaunay syndrome: case report and literature review

Agnieszka Święcicka-Klama12, Katarzyna Drożdż13, Bożena Sapian-Raczkowska1, Andrzej Szuba13, Angelika Chachaj13
Acta Angiologica 2019;25(2):120-125.


Klippel-Trenaunay syndrome (KTS) is a rare congenital disease, characterized by a triad of clinical features: (1)
capillary malformations, manifesting as a “port wine stain”, (2) vascular anomalies, mostly varicose veins and (3)
bone and/or soft tissue hypertrophy, usually of one lower extremity. The symptoms are frequently accompanied
by lymphatic abnormalities that in some cases may lead to lymphedema. KTS is mostly benign in the course.
Nevertheless, patients with KTS are at higher risk of developing deep vein thrombosis (DVT), pulmonary thromboembolism,
recurrent episodes of thrombophlebitis, dermatolymphangitis or internal bleeding. Management
in KTS should be individualized, minimally invasive and involve multidisciplinary care of the patient. We report
a case of a man with fully symptomatic KTS, after incident pulmonary thromboembolism in the past and with
severe phlebolymphedema, effectively treated with decongestive lymphatic therapy (DLT). We also provide
a review of the literature on the clinical aspects of this complex syndrome.

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  1. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998; 73(1): 28–36.
  2. Capraro PA, Fisher J, Hammond DC, et al. Klippel-Trenaunay syndrome. Plast Reconstr Surg. 2002; 109(6): 2052–2060; quiz 2061.
  3. Kulungowski AM, Fishman SJ. Management of combined vascular malformations. Clin Plast Surg. 2011; 38(1): 107–120.
  4. Mulliken JB, Burrows PE, Fishman SJ. Mulliken and young’s vascular anomalies: hemangiomas and malformations. 2nd ed. Oxford University Press, Oxford 2013: 606–609.
  5. Liu NF, Lu Q, Yan ZX. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg. 2010; 52(6): 1557–1563.
  6. Volz K, Kanner C, Evans J, et al. Klippel-Trénaunay Syndrome. Journal of Ultrasound in Medicine. 2016; 35(9): 2057–2065.
  7. Huiras EE, Barnes CJ, Eichenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. 2005; 116(4): e596–e600.
  8. Douma RA, Oduber CEU, Gerdes VEA, et al. Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2012; 66(1): 71–77.
  9. Oduber CEU, Gerdes VEA, van der Horst CM, et al. Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension. J Plast Reconstr Aesthet Surg. 2009; 62(5): 684–689; discussion 689.
  10. Uihlein LC, Liang MG, Fishman SJ, et al. Capillary-venous malformation in the lower limb. Pediatr Dermatol. 2013; 30(5): 541–548.
  11. Calvo-Garcia MA, Kline-Fath BM, Adams DM, et al. Imaging evaluation of fetal vascular anomalies. Pediatr Radiol. 2015; 45(8): 1218–1229.
  12. Klippel M, Trenaunay P. Du naevus variqueux osteo-hypertrophique. Arch Gen Med. 1900; 185: 641–672.
  13. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998; 73(1): 28–36.
  14. Genetics Home Reference [Internet]. U.S. National Library of Medicine.2019; p. 1–5. Genetics Home Reference [Internet]. U.S. National Library of Medicine..
  15. Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg. 1985; 202(5): 624–627.
  16. Noel AA, Gloviczki P, Cherry KJ, et al. Surgical treatment of venous malformations in Klippel-Trénaunay syndrome. J Vasc Surg. 2000; 32(5): 840–847.
  17. Whelan AJ, Watson MS, Porter FD, et al. Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet. 1995; 59(4): 492–494.
  18. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. 2004; 427(6975): 640–645.
  19. Wang Q, Timur AA, Szafranski P, et al. Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet. 2001; 95(3-4): 183–188.
  20. Timur AA, Sadgephour A, Graf M, et al. Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. Ann Hum Genet. 2004; 68(Pt 4): 353–361.
  21. Wang SK, Drucker NA, Gupta AK, et al. Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome. J Vasc Surg Venous Lymphat Disord. 2017; 5(4): 587–595.
  22. Revencu N, Boon LM, Dompmartin A, et al. Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth. Mol Syndromol. 2013; 4(4): 173–178.
  23. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003; 73(6): 1240–1249.
  24. Wetzel-Strong SE, Detter MR, Marchuk DA. The pathobiology of vascular malformations: insights from human and model organism genetics. J Pathol. 2017; 241(2): 281–293.
  25. Dimopoulos A, Sicko RJ, Kay DM, et al. Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome. Am J Med Genet A. 2017; 173(2): 352–359.
  26. Oduber CEU, Young-Afat DA, van der Wal AC, et al. The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med. 2013; 18(4): 185–191.
  27. Sharma D, Lamba S, Pandita A, et al. Klippel-trénaunay syndrome — a very rare and interesting syndrome. Clin Med Insights Circ Respir Pulm Med. 2015; 9: 1–4.
  28. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007; 22(6): 291–298.
  29. Sreekar H, Dawre S, Petkar KS, et al. Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. J Plast Surg Hand Surg. 2013; 47(4): 303–307.
  30. Gloviczki P, Hollier LH, Telander RL, et al. Surgical implications of Klippel-Trenaunay syndrome. Ann Surg. 1983; 197(3): 353–362.
  31. LINDENAUER SM. The Klippel-Trenaunay Syndrome: varicosity, hypertrophy and hemangioma with no arteriovenous fistula. Ann Surg. 1965; 162: 303–314.
  32. Berry SA, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. Am J Med Genet. 1998; 79(4): 319–326.
  33. Cohen MM. Klippel-Trenaunay syndrome. Am J Med Genet. 2000; 93(3): 171–175.
  34. Servelle M. Klippel and Trénaunay's syndrome. 768 operated cases. Ann Surg. 1985; 201(3): 365–373.
  35. Eifert S, Villavicencio JL, Kao TC, et al. Prevalence of deep venous anomalies in congenital vascular malformations of venous predominance. J Vasc Surg. 2000; 31(3): 462–471.
  36. Servelle M. Klippel and Trénaunay's syndrome. 768 operated cases. Ann Surg. 1985; 201(3): 365–373.
  37. Rovira OJ, Repollet-Otero C, Rodriguez LE, et al. Symptomatic, unilateral, isolated, complete persistent sciatic vein. J Vasc Surg Venous Lymphat Disord. 2018; 6(1): 104–106.
  38. Szuba A, Rockson SG. Lymphedema: anatomy, physiology and pathogenesis. Vasc Med. 1997; 2(4): 321–326.
  39. Servelle M. Albeaux Fernet N, Laborde N. Lesions des vaisseux lymphatiques dans les malformations congenitales des veines profondes. Press Medicale. 1957; 65: 531–534.
  40. Sabin F. On the origin of the lymphatic system from the veins and the development of the lymph hearts and thoracic duct in the pig. American Journal of Anatomy. 1902; 1(3): 367–389.
  41. Cha SH, Romeo MA, Neutze JA. Visceral manifestations of Klippel-Trénaunay syndrome. Radiographics. 2005; 25(6): 1694–1697.
  42. Kundzina L, Lejniece S. Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. J Med Case Rep. 2017; 11(1): 243.
  43. Sahin ON, Atik T, Coğulu O, et al. The spectrum of clinical features associated with Klippel-Trenaunay-Weber syndrome. Genet Couns. 2015; 26(2): 249–251.
  44. 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(4): 243–251.
  45. Meier S. Klippel-Trenaunay syndrome: a case study. Adv Neonatal Care. 2009; 9(3): 120–124.
  46. Banzic I, Brankovic M, Maksimović Ž, et al. Parkes Weber syndrome-diagnostic and management paradigms: a systematic review. Phlebology. 2017; 32(6): 371–383.
  47. Young AE. Congenital mixed vascular deformities of the limbs and their associated lesions. Birth Defects Orig Artic Ser. 1978; 14(6B): 289–296.
  48. Baskerville PA, Ackroyd JS, Lea Thomas M, et al. The Klippel-Trenaunay syndrome: clinical, radiological and haemodynamic features and management. Br J Surg. 1985; 72(3): 232–236.
  49. Szuba A, Rockson SG. Lymphedema: classification, diagnosis and therapy. Vasc Med. 1998; 3(2): 145–156.
  50. Drozdz K, Chachaj A, Szuba A. The decongestive lymphatic therapy in the massive primary lower limb lymphedema treatment. Acta Angiologica. 2017; 23(3): 130–134.
  51. Phillips GN, Gordon DH, Martin EC, et al. The Klippel-Trenaunay syndrome: clinical and radiological aspects. Radiology. 1978; 128(2): 429–434.
  52. Warren AG, Brorson H, Borud LJ, et al. Lymphedema: a comprehensive review. Ann Plast Surg. 2007; 59(4): 464–472.
  53. Gloviczki P, Stanson AW, Stickler GB, et al. Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. Surgery. 1991; 110(3): 469–479.
  54. Blaise S, Charavin-Cocuzza M, Riom H, et al. Treatment of low-flow vascular malformations by ultrasound-guided sclerotherapy with polidocanol foam: 24 cases and literature review. Eur J Vasc Endovasc Surg. 2011; 41(3): 412–417.