Chronic pulmonary embolism in Klippel-Trenaunay syndrome

Renee A. Douma*, Charlene E. U. Oduber, Victor E. A. Gerdes, Otto M. van Delden, Berthe L. F. van Eck-Smit, Joost C. M. Meijers, Eduard J. van Beers, Berto J Bouma, Chantal M. A. M. van der Horst, Paul Bresser

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Klippel-Trenaunay syndrome (KTS) is characterized by vascular malformations and disturbed soft tissue or bony growth, involving one or more extremities. A high incidence of venous thromboembolism (VTE) has been reported in this disorder, along with cases of belated diagnosed chronic thromboembolic (CTE) pulmonary hypertension (CTEPH). We performed a cross-sectional study to investigate the prevalence of CTE in patients with KTS.Those from our KTS patient cohort willing to participate were examined with a sequential diagnostic workup including perfusion scintigraphy, computed tomography, and echocardiography.Of 68 patients, 48 patients participated in the study (median age 43 years; 29 [60%] were female). Eleven patients (23%) had an abnormal perfusion scan result, of whom computed tomographic scanning showed signs of CTE in two patients (4.2%; 95% confidence interval [CI] 1.2%-14%); both patients had a history of VTE. Echocardiography showed no signs of CTEPH in these patients. In total, 23 patients (48%; 95% CI 35%-62%) had a history of superficial vein thrombosis and 8 patients (17%; 95% CI 8.7%-30%) had a history of deep vein thrombosis or pulmonary embolism, which was associated with more shortness of breath.Echocardiography was only performed in patients with CTE.A large proportion of patients with KTS had a history of VTE. The prevalence of CTE in the total KTS cohort, however, appeared less alarming than previously assumed. Based on these results, we suggest that there is only a limited indication for CTEPH screening among patients with KTS. Nevertheless, awareness for CTEPH remains appropriate, especially among patients presenting with shortness of breath and a history of VTE. American Academy of Dermatology, Inc. Published by
Original languageEnglish
Pages (from-to)71-77
JournalJournal of the American Academy of Dermatology
Issue number1
Publication statusPublished - Jan 2012


  • chronic thromboembolic pulmonary hypertension
  • chronic thromboembolism
  • Klippel-Trenaunay syndrome
  • pulmonary embolism
  • vascular malformations
  • venous thromboembolism

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