Deep vein thrombosis in Klippel–Trénaunay syndrome

Tran, Thuy Yen Vy; Steinbrecher, Yannik; Herold, Joerg

doi:10.3238/arztebl.m2022.0169

Cited by 1 publication

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“…Venous malformations are a frequent manifestation of KTS, presenting with varicosities involving both superficial and deep venous systems with variable expression ranging from ectasia of small veins to persistent embryonic blood vessel and huge venous deformity of the superficial venous system [ 2 , 22 , 25 ]. The persistent embryonic veins may be the cause of the reduced blood flow, with subsequent deep-vein thrombosis and associated pulmonary embolism [ 25 , 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

Pavone,

Marino,

Cacciaguerra

et al. 2023

Children

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Klippel–Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel–Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.

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