Diversity and frequency of symptoms in Klippel–Trénaunay syndrome
More details
Hide details
Human Anatomy Research Group, Medical University, Lublin, Poland
Department of Correct, Clinical and Imaging Anatomy, Medical University, Lublin , Poland
1st Military Clinical Hospital with the Outpatient Clinic, Lublin, Poland
District Hospital, Sochaczew, Poland
Corresponding author
Maja Potępa   

Human Anatomy Research Group, Medical University of Lublin, Jaczewskiego 4, 20-090, Lublin, Poland
Introduction and objective:
Klippel–Trénaunay syndrome is a rare congenital disease consisting of vascular malformations, limb overgrowth, large varicose veins and port-wine stains. It is related to the mosaic variants of PIK3CA gene. Patients with KTS usually receive symptomatic treatment, such as orthopaedic correction of limb overgrowth or varicose vein treatment. This systematic review aims to summarise knowledge about the most common of anomalies presented by Klippel–Trénaunay patients. The literature review describes the anomalies present in Klippel–Trénaunay syndrome.

Review methods:
This review was created based on 21 papers found in PubMed and PubMedCentral databases after searching for’klippel trenaunay’ and ‘hyperthrophy/anomaly/anatomical/malformation’, published between 1978–2023, as well as on Dove Press articles from 2012.

Abbreviated description of the state of knowledge:
Limb overgrowth is a dominant symptom of KTS, appearing in 67% – 100% of patients. More often it affects lower limbs, although it can also appear in the upper limbs. Overgrowth is caused by vascular malformations which, on their own, are another symptom of KTS. Patients with KTS present malformations of deep veins (e.g. popliteal vein) or superficial veins (e g. superficial femoral vein), together with embryonal veins (e.g. persisting sciatic vein). Port-wine stains can appear to up to 98% of patients, and are located mostly on the lower limbs and/or torso.

The variety of anomalies appearing in Klippel–Trénaunay syndrome is large and diversified. Collecting and summing-up information about anatomical anomalies of Klippel–Trénaunay syndrome can help both doctors and patients in the search for more meticulous diagnosis and treatment of the symptoms.

Pavone P, Marino L, Cacciaguerra G, et al. Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review. Children (Basel). 2023;10(8):1421.
Daume L, Renz C, Trento G, Kleinheinz J. Klippel-Trenaunay-Weber syndrome: Oro-dental manifestations and management. Int J Surg Case Rep. 2023;110:108690.
Funayama E, Sasaki S, Oyama A, Furukawa H, Hayashi T, Yamamoto Y. How Do the Type and Location of a Vascular Malformation Influence Growth in Klippel-Trénaunay Syndrome?: Plastic and Reconstructive Surgery. 2011;127(1):340–346.
Mattassi R. Differential diagnosis in congenital vascular-bone syndromes. Semin Vasc Surg. 1993;6(4):233–244.
Schoch JJ, Nguyen H, Schoch BS, et al. Orthopaedic diagnoses in patients with Klippel-Trenaunay syndrome. J Child Orthop. 2019;13(5):457–462.
Alwalid O, Makamure J, Cheng QG, et al. Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature. Curr Med Sci. 2018;38(5):925–931.
Phillips GN, Gordon DH, Martin EC, Haller JO, Casarella W. The Klippel-Trenaunay Syndrome: Clinical and Radiological Aspect. Radiology. 1978;128(2):429–434.
Servelle M. Klippel and Trénaunay’s syndrome. 768 operated cases. Ann Surg. 1985;201(3):365–373.
Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73(1):28–36.
Asghar F, Aqeel R, Farooque U, Haq A, Taimur M. Presentation and Management of Klippel-Trenaunay Syndrome: A Review of Available Data. Cureus. 2020;12(5):e8023.
Mneimneh S, Tabaja A, Rajab M. Klippel-Trenaunay Syndrome with Extensive Lymphangiomas. Case Rep Pediatr. 2015;2015:581394.
Vicentini FC, Denes FT, Gomes CM, Danilovic A, Silva FA, Srougi M. Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. Int Braz J Urol. 2006;32(6):697–703; discussion 703–704.
Oduber CE, Young-Afat DA, Van Der Wal AC, Van Steensel MA, Hennekam RC, Van Der Horst CM. The persistent embryonic vein in Klippel–Trenaunay syndrome. Vasc Med. 2013;18(4):185–191.
Zwerink L, Praster R, Van Der Vleuten C. Prevalence and inventory of venous anatomical abnormalities in the arms of patients with combined capillary, venous and lymphatic malformations (Klippel–Trénaunay syndrome). Phlebology. 2021;36(7):549–554.
Fang X, Zhang W, Yu Z, Kuang F, Huang B, Duan H. Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report. BMC Pediatr. 2020;20(1):388.
Cha SH, Romeo MA, Neutze JA. Visceral Manifestations of Klippel-Trénaunay Syndrome. RadioGraphics. 2005;25(6):1694–1697.
Wang ZK, Wang FY, Zhu RM, Liu J. Klippel-Trenaunay syndrome with gastrointestinal bleeding, splenic hemangiomas and left inferior vena cava. World J Gastroenterol. 2010;16(12):1548–1552.
Choudhary MG, Sehra. A case report and brief literature review of Klippel-Trénaunay syndrome. RRN. Published online May 2012:21.
Zavacka M, Pobehova J, Gibarti K, Frankovicova M. Patients with Klippel-Trenaunay syndrome. Bratisl Lek Listy. 2016;117(10):601–604.
Yousif S, Lampe G, Pattavilakom A. Large frontal osseous hemangioma with dural sinus involvement in a patient with Klippel-Trenaunay syndrome: A rare case report. Surg Neurol Int. 2018;9:205.
Di Buono G, Ricupati F, Vella R, Saverino M, Amato G, Agrusa A. Giant uterus in a patient with Klippel-Trenaunay syndrome. Report of a case. Int J Surg Case Rep. 2022;96:107376.
Journals System - logo
Scroll to top