Clinical phenotype of adolescent and adult patients with extracranial vascular malformation.

Tuleja, A; Bernhard, S; Hamvas, G; Andreoti, T A; Rössler, J; Boon, L M; Vikkula, M; Kammer, R; Haupt, F; Döring, Y; Baumgartner, I (2023). Clinical phenotype of adolescent and adult patients with extracranial vascular malformation. Journal of vascular surgery. Venous and lymphatic disorders, 11(5), 1034-1044.e3. Elsevier 10.1016/j.jvsv.2023.03.012

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BACKGROUND

In recent years, genotypic characterization of congenital vascular malformations (CVM) has gained attention; however, the spectrum of clinical phenotype remains difficult to attribute to a genetic cause and is rarely described in the adult population.

AIM

The aim of this study is to describe a consecutive series of adolescent and adult patients in a tertiary center, where a multimodal phenotypic approach was used for diagnosis.

METHODS

We analyzed clinical findings, imaging, and laboratory results at initial presentation, and set a diagnosis according to the International Society for the Study of Vascular Anomalies (ISSVA) classification for all consecutively registered patients older than 14 years of age who were referred to the Center for Vascular Malformations at the University Hospital of Bern between 2008 and 2021.

RESULTS

457 patients were included for analysis (mean age 35 years; females 56%). Simple CVMs were the most common (n=361, 79 %), followed by CVM associated with other anomalies (n=70, 15%), and combined CVM (n=26, 6%). Venous malformations (n=238) were the most common CVM overall (52%), and the most common simple CVM (66%). Pain was the most frequently reported symptom in all patients (simple, combined and vascular malformation with other anomalies). Pain intensity was more pronounced in simple venous and arteriovenous malformation. Clinical problems were related to the type of CVM diagnosed, with bleeding and skin ulceration in arteriovenous malformations, localized intravascular coagulopathy in venous malformations and infectious complications in lymphatic malformations. Limb length difference occurred more often in patients with CVM associated with other anomalies as compared to simple or combined CVM (22.9 vs 2.3%, p< 0.001). Soft tissue overgrowth was seen in one quarter of all patients independent of the ISSVA group.

CONCLUSIONS

In our adult and adolescent population with peripheral vascular malformations, simple venous malformations predominated, with pain as the most common clinical symptom. In a quarter of cases, patients with vascular malformations presented with associated anomalies on tissue growth. The differentiation of clinical presentation with or without accompanying growth abnormalities need to be added to the ISSVA classification. Phenotypic characterization considering vascular and non-vascular features remains the cornerstone of diagnosis in adult-as well as pediatric patients.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Haematology/Oncology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Forschungsbereich Mu50 > Forschungsgruppe Angiologie
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Angiology

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Tuleja, Aleksandra Beata, Bernhard, Sarah Maike, Hamvas, Györgyi Veronika, Andreoti, Themis Areti, Rössler, Jochen Karl, Kammer, Rafael Franz, Haupt, Fabian, Döring, Yvonne, Baumgartner, Iris

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2213-333X

Publisher:

Elsevier

Language:

English

Submitter:

Pubmed Import

Date Deposited:

11 Apr 2023 15:00

Last Modified:

03 Jun 2024 14:31

Publisher DOI:

10.1016/j.jvsv.2023.03.012

PubMed ID:

37030445

Uncontrolled Keywords:

overgrowth phenotype vascular malformation

BORIS DOI:

10.48350/181610

URI:

https://boris.unibe.ch/id/eprint/181610

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