The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations

Nader Ghaffarpour; Eulalia Baselga; Laurence M Boon; Andrea Diociaiuti; Anne Dompmartin; Veronika Dvorakova; May El Hachem; Paolo Gasparella; Emir Haxhija; Kristiina Kyrklund; Alan D Irvine; Friedrich G Kapp; Jochen Rößler; Päivi Salminen; Caroline van den Bosch; Carine van der Vleuten; Leo Schultze Kool; Miikka Vikkula

doi:10.1016/j.ejmg.2022.104637

The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations

Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9.

Authors

Nader Ghaffarpour¹, Eulalia Baselga², Laurence M Boon³, Andrea Diociaiuti⁴, Anne Dompmartin⁵, Veronika Dvorakova⁶, May El Hachem⁴, Paolo Gasparella⁷, Emir Haxhija⁷, Kristiina Kyrklund⁸, Alan D Irvine⁶, Friedrich G Kapp⁹, Jochen Rößler¹⁰, Päivi Salminen⁸, Caroline van den Bosch¹¹, Carine van der Vleuten¹², Leo Schultze Kool¹³, Miikka Vikkula¹⁴

Affiliations

¹ Department of Reconstructive Plastic Surgery, Karolinska University Hospital, Stockholm, Sweden. Electronic address: nader.ghaffarpour@regionstockholm.se.
² Pediatric Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain.
³ Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre University of Louvain, Brussels, Belgium.
⁴ Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
⁵ Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.
⁶ Paediatric Dermatology, Children's Health Ireland, (Y)Clinical Medicine, Trinity College Dublin, Ireland.
⁷ Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria.
⁸ Department of Pediatric Surgery, HUS Rare Disease Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
⁹ Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
¹⁰ Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.
¹¹ Hevas, Patient Organisation for Vascular Anomalies, the Netherlands.
¹² Department of Dermatology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands.
¹³ Department of Radiology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands.
¹⁴ Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre University of Louvain, Brussels, Belgium; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

PMID: 36223836
DOI: 10.1016/j.ejmg.2022.104637

Abstract

Lymphatic malformations (LMs) are developmental defects of lymphatic vessels. LMs are histologically benign lesions, however, due to localization, size, and unexpected swelling, they may cause serious complications that threaten vital functions such as compression of the airways. A large swelling of the face or neck may also be disfiguring and thus constitute a psychological strain for patients and their families. LMs are also highly immunologically reactive, and are prone to recurrent infections and inflammation causing pain as well as chronic oozing wounds. The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) is dedicated to gathering the best expertise in Europe. There are only few available guidelines on management and follow up of LMs, which commonly focus on very specific situations, such as head and neck LM (Zhou et al., 2011). It is still unclear, what constitutes an indication for treatment of LMs and how to follow up the patients. The Vascular Anomalies Working Group (VASCA-WG) of VASCERN decided to develop a diagnostic and management pathway for the management of LMs with a Nominal Group Technique (NGT), a well-established, structured, multistep, facilitated group meeting technique used to generate consensus statements. The pathway was drawn following 2 face-to-face meetings and multiple web meetings to facilitate discussion, and by mail to avoid the influence of most authoritative members. The VASCA-WG has produced this opinion statement reflecting strategies developed by experts and patient representatives on how to approach patients with lymphatic malformations in a practical manner; we present an algorithmic view of the results of our work.

Keywords: Alpelisib; Interventional radiology; Lymphatic malformation; Management; PIK3CA; Patient pathway; Sclerotherapy; Sirolimus; Surgery; Treatment algorithm; Vascular malformation.

MeSH terms

Head
Humans
Lymphatic Abnormalities* / diagnosis
Lymphatic Abnormalities* / etiology
Lymphatic Abnormalities* / therapy
Neck
Retrospective Studies
Sclerotherapy* / adverse effects
Sclerotherapy* / methods
Treatment Outcome