Clinical presentation of simple and combined or syndromic arteriovenous malformations

Autor: Fabian Haupt, Iris Baumgartner, Jessica E. Laine, Sarah M. Bernhard, Dario Häberli, Ulrike Hügel, Aleksandra Tuleja, Marc Schindewolf, Jochen Rössler
Rok vydání: 2022
Předmět:
Zdroj: Bernhard, Sarah M.; Tuleja, Aleksandra; Laine, Jessica E.; Haupt, Fabian; Häberli, Dario; Hügel, Ulrike; Rössler, Jochen; Schindewolf, Marc; Baumgartner, Iris (2022). Clinical presentation of simple and combined or syndromic arteriovenous malformations. Journal of vascular surgery. Venous and lymphatic disorders, 10(3), pp. 705-712. Elsevier 10.1016/j.jvsv.2021.10.002
ISSN: 2213-333X
DOI: 10.1016/j.jvsv.2021.10.002
Popis: OBJECTIVE Arteriovenous malformations of the lower extremities (AVMLE) can present as simple or complex combined or syndromic forms (eg, Parkes Weber Syndrome). We aimed to characterize the differences in clinical presentation and natural history of these potentially life- and limb-threatening congenital vascular malformations. METHODS We conducted a retrospective analysis of a consecutive series of patients with AVMLE who presented to a tertiary referral center in Switzerland between 2008 and 2018. Clinical baseline characteristics, D-dimer level, and course were summarized and differences between simple, non-syndromic and combined or syndromic AVMLE determined. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression models. RESULTS Overall, 506 patients were prospectively enrolled in the Bernese Congenital Vascular Malformation Registry, 31 (6%) with AVMLE. There were 16 women and 15 men, with a mean age of 18 years at first diagnosis (range, 1 month to 72 years). Simple AVMLE was present in 22 (71%) and combined or syndromic AVMLE with limb overgrowth in 9 patients (29%), respectively. Common symptoms and signs were pain (n = 25; 81%), swelling (n = 21; 68%), and soft tissue hypertrophy (n = 13; 42%). Among combined or syndromic patients, three patients died from wound infection with sepsis or disseminated intravascular coagulation with bleeding complications (intracranial hemorrhage and bleeding from extensive leg ulcers). Combined or syndromic patients presented more often with bleeding (67% vs 5%; P < .001), malformation-related infection (44% vs 5%; P = .017) and leg length difference (56% vs 14%; P = .049). D-dimer levels were elevated (mean, 17,256 μg/L; range, 1557-80,000 μg/L) and angiographic appearance showed complex, mixed type of AVMs, including interstitial type IV, in all patients with combined or syndromic AVMLE. CONCLUSIONS Patients with congenital simple AVMLE most often present with benign clinical features and rarely with complications related to hemodynamic changes. Patients with combined or syndromic AVMLE often face serious outcomes dominated by complications other than direct high-flow-related heart failure.
Databáze: OpenAIRE
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