Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN).

Autor: Devoogdt N; Centre for Lymphedema, Dpt of Vascular Surgery, University Hospitals Leuven, Leuven, Belgium., Van Zanten M; Department of Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, UK., Damstra R; Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands., Van Duinen K; Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands., Dickinson-Blok JL; Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands., Thomis S; Centre for Lymphedema, Dpt of Vascular Surgery, University Hospitals Leuven, Leuven, Belgium., Giacalone G; Lymphedema Centre, AZ Sint-Maarten, Mechelen, Belgium., Belva F; Lymphedema Centre, AZ Sint-Maarten, Mechelen, Belgium., Suominen S; Department of Plastic Surgery, Helsinki University Hospital, Helsinki, Finland., Kavola H; Department of Plastic Surgery, Helsinki University Hospital, Helsinki, Finland., Oberlin M; European Centre for Lymphology, Földi Clinic, Merzhausen, Germany., Rossler J; European Centre for Lymphology, Földi Clinic, Merzhausen, Germany., Rucigaj TP; Dermatovenereological Clinic, University Medical Centre Ljubljana, Ljubljana, Slovenia., Riches K; Derby Lymphoedema Service, University Hospitals of Derby and Burton NHS Trust, Derby, UK., Mansour S; Department of Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, UK., Gordon K; Department of Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, UK., Vignes S; French Reference Center Rare Vascular Diseases, Primary Lymphedema Unit, AP-HP, HEGP Hôpital Européen Georges Pompidou, Paris, France., Keeley V; Derby Lymphoedema Service, University Hospitals of Derby and Burton NHS Trust, Derby, UK. Electronic address: vaughan.keeley@nhs.net.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104641. Date of Electronic Publication: 2022 Oct 13.
DOI: 10.1016/j.ejmg.2022.104641
Abstrakt: Little is known about the overall prevalence of lymphoedema in children and the types of paediatric lymphoedema seen by specialist centres. Therefore, this study was aimed to provide a profile of children with primary or secondary lymphoedema seen by the expert centres of the paediatric and primary lymphoedema working group (PPL-WG) of VASCERN and to compare the profile between the different countries. A retrospective review of all children (aged up to 18 years) seen for the first time by the expert centres over one year (2019) was carried out. Lymphoedema-, patient- and genetics-related data was collected and described for the whole group and compared between the different European countries/UK. In 2019, a total of 181 new children were seen by eight expert centres. For primary lymphoedema, the phenotype was based on the St George's classification of lymphatic anomalies. The percentages diagnosed according to each category were: 7.2% for syndromic lymphoedema, 2.8% for systemic/visceral involvement, 30.4% for congenital, 35.9% for late-onset lymphoedema and 19.3% for vascular/lymphatic malformations. 4.4% had secondary lymphoedema. Nearly 10% of all children had had at least one episode of cellulitis. The median delay from onset of symptoms to being seen by an expert centre was 2.4 years. In 44.4% of the children with primary lymphoedema a genetic test was performed, of which 35.8% resulted in a molecular diagnosis. Across the different centres, there was a wide variety in distribution of the different categories of paediatric lymphoedema diagnosed and the frequency of genetic testing. In conclusion, this paper has demonstrated that there is a large delay between the onset of paediatric lymphoedema and the first visit in the expert centres and that an episode of cellulitis is a relatively common complication. Diagnostic variation across the centres may reflect different referral criteria. Access to genetic testing was limited in some centres. It is recommended that these issues are addressed in the future work of the PPL-WG to improve the referral to the expert centres and the consistency in service provision for paediatric lymphoedema in Europe.
(Copyright © 2022. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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