Aberrant venous anatomy as a risk factor for thromboembolic events in patients with Klippel-Trénaunay syndrome: Case-control study within a cohort study

Prevalence and inventory of venous anatomical abnormalities in the arms of patients with combined capillary, venous and lymphatic malformations (Klippel–Trénaunay syndrome)

“…Our own research on legs has shown that certain venous abnormalities (lateral marginal vein, insufficient vena perforans in the upper leg and intramuscular convolutes) are related to a higher risk of thrombosis. 16 Furthermore, we sought to investigate a relationship between the (aberrant) venous anatomy and pain complaints. In legs, CDU-investigations were performed to map the venous anatomy in order to find opportunities for vascular surgery.…”

“…Our cohort of Dutch CLVM-patients consisting of 173 patients is well characterized. 16 Of the total cohort, 43 patients (24.9%) had arm-involvement and were included in this study. The patients were between 2 and 62 years old (mean of 31.7 AE 18.1 years).…”

“…The primary aim of this study using data of a retrospective cohort study is to investigate the prevalence of arm-involvement in CLVM-patients. 16 A second aim is to describe the venous anatomy and/or venous aberrations present in the arm, and if possible in relationship to complaints (pain, congestion and thromboembolic events). To the best of our knowledge, this study is the first to systematically investigate this topic in a large cohort of CLVM-patients, to furthermore evaluate the role of altered anatomy in the arm in relation to complaints.…”

Is there a place for prophylaxis with DOACs in Klippel-Trenaunay syndrome and other low-flow vascular malformations with intravascular coagulopathy and thromboembolic events?

“…Although Direct Oral AntiCoagulants (DOACs) are first choice treatment in venous thromboembolism (VTE), in rare conditions, such as vascular anomalies and especially low-flow vascular malformations (VM), where the increased risk of thromboembolic events (TEE) is becoming increasingly evident, prophylaxis with DOACs has not yet been implemented [1,2].…”

“…KTS has an incidence of 1:100.000 live births and is traditionally clinically characterized by a large congenital port-wine stain, usually on one leg, combined with venous and lymphatic malformations and hypertrophy of the same limb. Aberrant venous anatomy with persistent (insufficient) embryonal veins may be part of the condition [2]. Recently it was shown that KTS is a consequence of an activating PIK3CA mutation (in mosaic form) in the affected tissues.…”