Klippel-Trenaunay Syndrome

John, Philip

doi:10.1016/j.tvir.2019.100634

Cited by 61 publications

(49 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Finally, inherited gene translocations have also been reported [ 109 , 110 ]. Howsoever, KTS is associated to an overgrowth in the vascular cells, leading to the development of different signs, such as cutaneous hemangiomas (Port-wine stains), lymphatic, or venous malformations [ 111 ]. Thus, patients with KTS exhibit a wide variety of venous complications, such as severe venous hypertension, complex reflux patterns, advanced valvular incompetence, calf muscle pump impairment and DVT, and venous ulcer development [ 112 , 113 ].…”

Section: Etiology and Pathogenesis Of Cvdmentioning

confidence: 99%

Understanding Chronic Venous Disease: A Critical Overview of Its Pathophysiology and Medical Management

Ortega

Fraile-Martínez

García-Montero

et al. 2021

JCM

112

View full text Add to dashboard Cite

Chronic venous disease (CVD) is a multifactorial condition affecting an important percentage of the global population. It ranges from mild clinical signs, such as telangiectasias or reticular veins, to severe manifestations, such as venous ulcerations. However, varicose veins (VVs) are the most common manifestation of CVD. The explicit mechanisms of the disease are not well-understood. It seems that genetics and a plethora of environmental agents play an important role in the development and progression of CVD. The exposure to these factors leads to altered hemodynamics of the venous system, described as ambulatory venous hypertension, therefore promoting microcirculatory changes, inflammatory responses, hypoxia, venous wall remodeling, and epigenetic variations, even with important systemic implications. Thus, a proper clinical management of patients with CVD is essential to prevent potential harms of the disease, which also entails a significant loss of the quality of life in these individuals. Hence, the aim of the present review is to collect the current knowledge of CVD, including its epidemiology, etiology, and risk factors, but emphasizing the pathophysiology and medical care of these patients, including clinical manifestations, diagnosis, and treatments. Furthermore, future directions will also be covered in this work in order to provide potential fields to explore in the context of CVD.

show abstract

Section: Etiology and Pathogenesis Of Cvdmentioning

confidence: 99%

Understanding Chronic Venous Disease: A Critical Overview of Its Pathophysiology and Medical Management

Ortega

Fraile-Martínez

García-Montero

et al. 2021

JCM

112

View full text Add to dashboard Cite

show abstract

“…Our patient had not undergone genetic counselling; the genetic alterations identified are not universal to the Klippel-Tr enaunay syndrome phenotype and as such do not form part of current diagnostic criteria [9]. In 2018, a formal definition was put forward by the International Society for the Study of Vascular Abnormalities to include capillary and venous malformations with or without lymphatic malformation and limb overgrowth [4].…”

Section: Discussionmentioning

confidence: 99%

Peripartum management of a parturient with Klippel‐Trénaunay syndrome

Moxon

Kennedy

2021

Anaesthesia Reports

View full text Add to dashboard Cite

Klippel-Tr enaunay syndrome is a rare congenital disorder affecting the vascular and lymphatic systems. The clinical presentation can vary widely, but the syndrome is broadly characterised by capillary, venous and lymphatic malformations as well as limb hypertrophy. We present the case of a 35-year-old parturient who underwent an emergency caesarean section for suspected fetal distress, and describe the anaesthetic management during the peripartum period. Only a small number of similar cases have been described, and the multisystem nature of the condition presents several challenges to both the obstetric and anaesthetic management. The major points of concern to the anaesthetist are haematological, with a tendency to both abnormal bleeding and clotting disorders, compounded by vascular malformations which may present anywhere in the body including the epidural space and airway. Other considerations relate to limb hypertrophy and spinal abnormalities, as well as pulmonary and ocular sequelae and chronic pain. Strategies for safe patient management include early multidisciplinary involvement, and assessment of the presence and extent of any vascular anomalies with advanced imaging techniques. The risk of significant blood loss can be mitigated with antifibrinolytic and uterotonic medication as well as cell salvage, with treatment carefully balanced against the concurrent risk of thrombosis.

show abstract

“…Typical KTS cases are diagnosed based on physical examination findings without imaging, laboratory, or genetic testing [13]. However, it should be differentiated from Parkes-Weber syndrome-a high-shunt fast-flow arteriovenous malformation-by checking for the presence of a significant arteriovenous fistula.…”

Section: Discussionmentioning

confidence: 99%

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Fang

Zhang

et al. 2020

BMC Pediatr

View full text Add to dashboard Cite

Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTSsubperiosteal lesion manifestations.

show abstract

Klippel-Trenaunay Syndrome

Cited by 61 publications

References 30 publications

Understanding Chronic Venous Disease: A Critical Overview of Its Pathophysiology and Medical Management

Understanding Chronic Venous Disease: A Critical Overview of Its Pathophysiology and Medical Management

Peripartum management of a parturient with Klippel‐Trénaunay syndrome

Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Contact Info

Product

Resources

About