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

Zwerink, Lgjm; Praster, R; Vleuten, Cjm van der

doi:10.1177/0268355521989873

Cited by 5 publications

(3 citation statements)

References 17 publications

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“…Tissue overgrowth usually affects one of the lower limbs [5] and is described as overgrowth of bone and soft tissue, which can increase in size by the coarsening of bone layers, venous hypertension [10], or oedema caused by lymph stasis caused by compression or obstruction. Upper extremities are less frequently affected by the disease -in 24.9% of cases, or 11% in situations where an upper limb is the only one affected [14].…”

Section: Resultsmentioning

confidence: 99%

Diversity and frequency of symptoms in Klippel–Trénaunay syndrome

Potępa,

Małyska,

Samczuk

et al. 2024

J Pre Clin Clin Res.

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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. Brief 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. Summary. 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.

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Section: Resultsmentioning

confidence: 99%

Diversity and frequency of symptoms in Klippel–Trénaunay syndrome

Potępa,

Małyska,

Samczuk

et al. 2024

J Pre Clin Clin Res.

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“…Nine of the twelve had venous malformations. 14 It is believed that deep vein abnormalities as a result of obstruction of venous flow lead to venous hypertension, varicose veins, and organ hypertrophy. 15 But in this disease, intracerebral arteriovenous abnormalities are very rare.…”

Section: Discussionmentioning

confidence: 99%

“…Out of the 19 patients who only had arm involvement, 12 patients were examined by duplex ultrasonography (CDU). Nine of the twelve had venous malformations 14 …”

Section: Discussionmentioning

confidence: 99%

KTWS (Klippel‐Trenaunay‐Weber syndrome): A systematic presentation of a rare disease

Mofarrah,

Gooranorimi

et al. 2024

J of Cosmetic Dermatology

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BackgroundKlippel‐Trenaunay‐Weber syndrome (KTWS) is a rare disease with a wide range of manifestations. KTWS is characterized by a clinical triad of varicosities of the extremities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is made clinically supplemented with magnetic resonance imaging and computed tomography.AimHereby we aim to highlight the significance of the possible life‐threatening first‐time presentations associated with the GI system in previously undiagnosed KTWS patients.PatientWe report the case of a 47‐year‐old male with KTWS, who presented with various symptoms such as rectorrhagia since childhood, digestive problems and abnormal lateral vascular malformations of the left buttock which extended all the way to the leg, vascular malformations of the left fourth and fifth toes as well as soft tissue swelling of the left foot. There was no evidence of other clinical presentations. The patient was hospitalized with severe rectorrhagia and a hemoglobin level of 3/9. Physical examination revealed a blood pressure of 85/55 and pulse rate of 115. Ruptured aneurysm of the superior mesenteric artery was found on angiography and subsequently treated with embolization. Dermatologic evaluation showed pitting edema of the left leg and foot and multiple vascular lesions. Thus a diagnosis of KTWS was established. Pulsed dye laser therapy and compression bandage was performed for the patient. The patient's follow‐up was done 3 months after discharge for which the patient was again consulted by a dermatologist and gastroenterologist. Lymphedema of the left leg had improved to a great extend so treatment with compression bandage was continued. Colonoscopy was repeated for the patient to evaluate and control possible active sources of bleeding, due to potential life‐threating complications.ResultsAccording to previous findings, there have been few case reports of KTWS presenting with gastrointestinal manifestations, fewer of which have covered acute life‐threatening bleedings associated with this system.

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Venous Anomalies in Overgrowth Syndromes

Santiago,

Chaudry

2024

Techniques in Vascular and Interventional Radiology

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

Cited by 5 publications

References 17 publications

Diversity and frequency of symptoms in Klippel–Trénaunay syndrome

Diversity and frequency of symptoms in Klippel–Trénaunay syndrome

KTWS (Klippel‐Trenaunay‐Weber syndrome): A systematic presentation of a rare disease

Venous Anomalies in Overgrowth Syndromes

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