Klippel-Trenaunay and Parkes-Weber syndromes: two case reports

Abstract

Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. The aim of this study is to describe one case of Klippel-Trenaunay syndrome, in a 36-year-old patient, and one case of Parkes-Weber syndrome, in a 21-year-old patient. We review the literature in order to discuss the possible causes and consequences of these diseases related to venous hypertension and angiodysplasia, taking a clearer approach to their differences, and discussing their treatment.Keywords: Klippel-Trenaunay syndrome; Parkes-Weber syndrome; angiodysplasia; nevus; arteriovenous malformations. ResumoA síndrome de Parkes-Weber é uma doença vascular congênita que consiste em malformações capilares, venosas, linfáticas e arteriovenosas. Embora seja uma entidade clinicamente distinta com complicações graves, essa síndrome ainda é frequentemente diagnosticada erroneamente como síndrome de Klippel-Trenaunay, que consiste em uma tríade de má formação nos vasos capilares, venosos e linfáticos, sem fístula arteriovenosa. Ambas as síndromes são geralmente diagnosticadas através de ultrassom Doppler e confirmadas pela angiografia por ressonância magnética. O objetivo deste estudo é descrever um caso de síndrome de Klippel-Trenaunay em um paciente de 36 anos de idade e um caso de síndrome de Parkes-Weber em uma paciente de 21 anos. A literatura foi revisada com o objetivo de discutir as possíveis causas e consequências dessa doença e sua associação à hipertensão venosa e angiodisplasia. O presente trabalho também levanta discussão a respeito das diferenças sintomatológicas de ambas as síndromes e seus respectivos tratamentos.Palavras-chave: síndrome de Klippel-Trenaunay; síndrome de Parkes-Weber; angiodisplasias; nevus; malformações arteriovenosas.

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

“…Parkes Weber syndrome (PWS) is another congenital vascular disorder affecting capillary, lymphatic, venous and arteriovenous malformations. PWS is frequently misdiagnosed with KTS, although the latter does not present arteriovenous fistulas [ 114 ]. In addition, the gene involved in PWS appears to be RASA1, which is mutated up to a 50% of the patients.…”

Parkes-Weber syndrome in the emergency department

“…Of note, a similar case has been reported by Chagas et al . 7 Here, the authors compare and contrast Parkes-Weber syndrome and Klippel-Trenaunay syndrome through the presentation of two cases. The Parkes-Weber syndrome case is of particular importance, as it describes another undiagnosed patient in her 20s presenting with lower extremity limb disproportions, joint pain and claudication.…”

“…Other cases have been described in the literature, which highlights the challenges in appropriately diagnosing this condition. 7 Common epidemiological points are both unidentified and underidentified including the aetiologies, risk factors, prevalence and outcomes. However, this is less relevant here as the aim of this report is to increase awareness of Parkes-Weber syndrome and vascular malformations that may be encountered in the emergency setting.…”

Klippel–Trenaunay and Parkes–Weber Syndromes: Differentials of Congenital Vascular Syndromes!

“…Both of these syndromes can be managed conservatively with compression garment therapy or with palliative embolization of varicosities and AVFs. Surgery is reserved for complicated resistant [2].…”