The PPL Working Group, is built upon Multidisciplinary Centres of Excellence collaborating and have a long-standing expertise in the diagnosis and management of adults and children with lymphatic problems
The Pediatric and Primary Lymphedema Working Group (PPL-WG) is one of the five Rare Disease Working Groups (RDWGs) of VASCERN that specialize in a particular type/group of rare vascular disease(s).
The PPL-WG is chaired by Dr. Robert Damstra, Dermatologist at the Expert center for lympho-vascular medicine, Nij Smellinghe hospital in Drachten, the Netherlands and is Co-Chaired by Professor Sahar Mansour, from the Paediatric and Primary Lymphoedema Clinic at St George’s University Hospitals NHS Foundation Trust in London, UK. These chairs, and all members of the Working Group, have a long-standing expertise in the diagnosis and management of adults and children with lymphatic problems.
The PPL-WG cooperates with the European Patient Advocacy Group (ePAG), whose representatives in the PPL-WG are ePAG Co-Chair for PPL, Pernille Henriksen (DALYFO) and ePAG Deputy Co-Chair Manuela Lourenço Marques (ANDLymph/National Association of Sufferers of Lymphatic Disorders).
The PPL-WG interacts with all the other WGs within this ERN, especially the Vascular Anomalies WG (VASCA-WG), particularly with regard to some lymphovascular disorders, which may present with lymphedema of the extremities.
Main Thematic Group: primary lymphedemas including syndromic lymphedema in children and adults, and lymphovascular disorders. Secondary lymphedema in children up to 18 years of age.
Related Rare Or Complex Disease(s):
– Milroy syndrome (ORPHA79452)
Late onset lymphedema
– Meige syndrome (ORPHA90186)
– Lymphedema distichiasis syndrome (ORPHA33001)
– Emberger syndrome (ORPHA3226)
Lymphedema with systemic involvement
– Hennekam syndrome (ORPHA2136)
– PIEZO1 related lymphatic dysplasia
– Generalised lymphatic dysplasia
– Multi-systemic lymphedema with systemic involvement
Syndromes associated with lymphedema
– Noonan/CFC syndrome (RASOpathies) (ORPHA648)
– Turner syndrome (ORPHA881)
– 22q13 microdeletion (ORPHA48652)
– Microcephaly with or without Chorioretinopathy, Lymphedema and Mental Retardation (MCLMR)(ORPHA2526)
Bases for the estimated incidence and prevalence numbers: 500 Million inhabitants within European union with about 6 million newborns annually.
|sub-thematic areas of expertise||Rare or complex disease(s) or condition(s) or highly specialized interventions||Code/ICD/ Orphacode / Group of Codes||Incidence (Number of cases / year)||Prevalence (in the EU)|
|PPL||Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome||ORPHA69088|
|PPL||Cholestasis-lymphedema syndrome||ORPHA1414 |
|PPL||Deafness-lymphedema-leukemia syndrome||ORPHA3226 |
|PPL||Genetic primary lymphedema||ORPHA459530|
|PPL||Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome||ORPHA69735|
|PPL||Lymphedema||ORPHA79383||600||prevalence of primary lymphedema is unknown, but is approximately 50 000|
|PPL||Lymphedema-atrial septal defects-facial changes syndrome||ORPHA86915|
|PPL||Lymphedema-cerebral arteriovenous anomaly syndrome||ORPHA86914|
|PPL||Lymphedema-posterior choanal atresia syndrome||ORPHA99141|
|PPL||Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome||ORPHA487796|
|PPL||Non-hereditary late-onset primary lymphedema||ORPHA90185 |
|PPL||Noonan syndrome||ORPHA648 |
|PPL||Noonan syndrome and Noonan-related syndrome||ORPHA98733|
|PPL||Noonan syndrome with multiple lentigines||ORPHA500|
|PPL||Noonan syndrome-like disorder with juvenile myelomonocytic leukemia||ORPHA363972|
|PPL||Noonan syndrome-like disorder with loose anagen hair||ORPHA2701 |
|PPL||Primary lymphedema||ORPHA77240 |
|PPL||Primary lymphedema with associated anomalies||ORPHA458841 |
|PPL||Segmental progressive overgrowth syndrome with fibroadipose hyperplasia||ORPHA314662 |
|PPL||Turner syndrome|| ORPHA881 |
|PPL||Turner syndrome due to structural X chromosome anomalies||ORPHA99413 |
|PPL||Yellow nail syndrome||ORPHA662 |
HEALTHCARE PROVIDER (HCP) FULL MEMBERS
Dr. Kirsten VAN DUINEN
Dr. Michael OBERLIN
Specialist in internal medicine
Wound Management / Lymphology
ePAG Deputy Co-Chair
Manuela LOURENÇO MARQUES
There are 2 types of affiliated partners:
- Associated National Centres (mainly healthcare providers) for those ERNs where an EU Member State is not yet represented by a full member in the respective ERN. It establishes a link with one specific ERN.
- A National Coordination Hub which establishes at once a link with more than one Network in which a given Member State is neither represented by a full member nor by an Associated National Centre. National Coordination Hubs may especially represent a useful solution for those Member States with very small populations that need to establish such links with many ERNs at once.
Associated National Centers
Pills of Knowledge (PoK) are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
All Pills of Knowledge by the Pediatric and Primary Lymphedema Working Group (PPL-WG) can be found in the PPL-WG Playlist here
The video introduces the lymphatic system and gives a brief summary on what exactly is lymphedema. Diagnosis, treatment, and complications are all explained in a clear and understandeable manner, making this video accessible to patients and the general public.
Video in English. Subtitles available in 5 European languages (English, French, Dutch, German and Finnish).
View this video here
Created by Dr. Kirsten F. van Duinen (Dermatologist, Nij Smellinghe Hospital Drachten, Netherlands)
This Pill of Knowledge (PoK) introduces the therapeutic process involved in the treatment of Pediatric and Primary Lymphedema (PPL) and how compression therapy is the cornerstone of management and treatment in PPL. It is intended for healthcare professionals and patients who would like to know more about the different types of compression therapy used to manage PPL.
Video in English. Subtitles available in 4 European languages (Dutch, English, French and German).
Created by Dr. Vaughan Keeley (Lymphedema Consultant, Derby Teaching Hospitals NHSF Trust, Derby, UK)
In this Pill of Knowledge (PoK), Dr. Vaughan Keeley gives an overview of cellulitis/erysipelas, which is a bacterial infection and a common complication in patients with Pediatric and Primary Lymphedema (PPL). He reviews the clinical presentation, diagnosis and treatment for cellulitis. This PoK is suitable for both patients and healthcare professionals.
Video in English. Subtitles available in 4 European languages (English, French, Dutch and German).
Created by andLINFA (The National Association of Sufferers of Lymphatic Disorders – Portugal) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).
In this Pill of Knowledge (PoK), Leonor, a Portuguese girl with lymphedema gives her testimonial of what it is like to live with this rare disease. It is suitable for both children and adults and a great resource for raising awareness of PPL.
Video is in Portuguese but subtitles are available in 9 European languages (Portuguese, English, Danish, Swedish, Dutch, Italian, Spanish, German and French).
Patient Pathways aim to improve the care and management of patients with a rare disease. They include the “red flags” that may lead to the suspicion of the disease, how to reach a definite diagnosis and the management and follow-up recommendations. They are a very important tool used in defining the best patient care and will be further validated and updated when needed.
The General Patient Pathway for Pediatric and Primary Lymphedema (PPL) ( issued 08/11/2019) can be found here
Damstra RJ, Halk A-B. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model, Journal of Vascular Surgery, 5 (2017) 756-765. doi:10.1016/j.jvsv.2017.04.012 (contains condensed summary from Dutch 2015 Lymphedema Guidelines)
German guidline “Diagnostis and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, S2k Leitlinie – Diagnostik und Therapie der Lymphödeme AWMF Reg.-Nr. 058-001, May 2017
English version of German Guidelines “Diagnostics and therapy of lymphedema” available here
Report of German Guidelines with all the collaborating members from Germany, Austria and Switzerland
The German guidelines are published here (organised by by 32 different groups in Germany, Austria and Switzerland).
The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.
Supporting documents and clinic information are available here
The PPL-WG is currently working on the production of consensus statement documents on various topics including diagnostic patient pathway for PPL, QoL for children, compression in children.
The PPL-WG is currently working on defining their clinical outcome measures.
All Pediatric and Primary Lymphedema (PPL) Factsheets in one document:
PPL Factsheets in German here
PPL Factsheets in Dutch here
PPL Factsheets in Spanish here
The PPL-WG Registry project will consist of the creation of a FAIR registry dedicated to the diseases covered by the PPL-WG, with the same aims, organisation and steps as the VASCA Registry. In addition, the PPL Working Group will benefit from the progress made by the VASCA Working Group, as PPL will use the same server, program, and development strategy as VASCA.
More information on the Registry WG page here.
- Year 1: Collaborative Publications
No collaborative publications from the PPL-WG between March 2017-February 2018.
- Year 2: Collaborative Publications
No collaborative publications from the PPL-WG between March 2018-February 2019.
- Year 3-4: Collaborative Publications
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S.J Med Genet. 2020 May 14:jmedgenet-2019-106084. doi: 10.1136/jmedgenet-2019-106084. Online ahead of print.PMID: 32409509