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):
Lymphedema (ORPHA79383)

Congenital Lymphedema
– 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 expertiseRare or complex disease(s) or condition(s) or highly specialized interventionsCode/ICD/ Orphacode / Group of CodesIncidence (Number of cases / year)Prevalence (in the EU)
PPLAnhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeORPHA69088  
PPLCholestasis-lymphedema syndromeORPHA1414  
PPLDahlberg-Borer-Newcomer syndromeORPHA1563  
PPLDeafness-lymphedema-leukemia syndromeORPHA3226 
PPLGenetic primary lymphedemaORPHA459530
PPLHennekam syndromeORPHA2136
PPLHypotrichosis-lymphedema-telangiectasia-renal defect syndromeORPHA69735
PPLLymphedemaORPHA79383
600prevalence of primary lymphedema is unknown, but is approximately 50 000
PPLLymphedema-atrial septal defects-facial changes syndrome ORPHA86915
PPLLymphedema-cerebral arteriovenous anomaly syndrome ORPHA86914
PPLLymphedema-distichiasis syndrome ORPHA33001
PPLLymphedema-posterior choanal atresia syndromeORPHA99141
PPLMacrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeORPHA487796
PPLMeige diseaseORPHA90186
PPLMicrocephaly-lymphedema-chorioretinopathy syndromeORPHA2526
PPLMilroy diseaseORPHA79452 
PPLMonosomy 22q13ORPHA48652 
PPLNon-hereditary late-onset primary lymphedemaORPHA90185 
PPLNoonan syndromeORPHA648 
PPLNoonan syndrome and Noonan-related syndromeORPHA98733
PPLNoonan syndrome with multiple lentiginesORPHA500
PPLNoonan syndrome-like disorder with juvenile myelomonocytic leukemiaORPHA363972
PPLNoonan syndrome-like disorder with loose anagen hairORPHA2701  
PPLPrimary lymphedemaORPHA77240 
PPLPrimary lymphedema with associated anomaliesORPHA458841  
PPLSegmental progressive overgrowth syndrome with fibroadipose hyperplasiaORPHA314662 
PPLSyndromic lymphedemaORPHA89832
PPLTurner syndrome ORPHA881 
PPLTurner syndrome due to structural X chromosome anomaliesORPHA99413  
PPLYellow nail syndromeORPHA662  
All HCP in the PPL-WG are covering this sub-thematic area of expertise.

HEALTHCARE PROVIDER (HCP) FULL MEMBERS

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NETHERLANDS

Nij Smellinghe hospital, Drachten, The Netherlands

VASCERN PPL European Reference Centre, Expert Center for lymphovascular medecine

Chair

Dr. Robert J. DAMSTRA
Dermatologist

 

Dr. Kirsten VAN DUINEN
Dermatologist

 

 

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UNITED KINGDOM

 St George’s University Hospitals, London, UK

VASCERN PPL European Reference Centre, Primary and Paediatric lymphedema clinic, Dermatology and Clinical Genetics

Co-Chair

Prof. Sahar MANSOUR
Consultant and Honorary Professor in Clinical Genetics

 

Dr. Kristiana GORDON
Consultant in Dermatology & Lymphovascular Medicine

 

 

Derby Teaching Hospitals NHSF Trust, Derby, UK

VASCERN PPL European Reference Centre, Paediatric and Primary Lymphedema Department

 

Dr. Vaughan KEELEY
Lymphoedema Consultant

 

Katie RICHES
Senior Research Nurse
Lymphoedema and Palliative Medicine

 

 

 

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BELGIUM

AZ Sint-Maarten , Mechelen, Belgium

VASCERN PPL European Reference Centre, Lymphedema Centre

 

Dr. Guido GIACALONE
Vascular Surgeon

 

Dr. Florence BELVA
Vascular Surgeon

 

 

 

University Hospitals Leuven, Leuven, Belgium

VASCERN PPL European Reference Centre, Lymphovenous Center

 

Dr. Sarah THOMIS
Vascular Surgeon

 

Dr. Nele DEVOOGDT
Physiotherapist

 

 

 

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DENMARK

ePAG Co-Chair

Pernille HENRIKSEN

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FINLAND

Helsinki University Hospital, Helsinki, Finland

VASCERN PPL European Reference Centre, Department of Plastic Surgery

 

Pr. Sinikka SUOMINEN 
Plastic Surgeon

 

Dr. Heli KAVOLA
Plastic Surgeon

 

 

 

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FRANCE

Consortium: AP-HP, HEGP Hôpital européen Georges Pompidou, Paris, France

VASCERN PPL European Reference Centre, French Reference Center rare vascular diseases, Primary Lymphedema Unit, Hôpital Cognacq-Jay

 

Dr. Stéphane VIGNES
Specialist in Internal Medecine Lymphology

 

 

 

 

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GERMANY

Consortium: University Medical Center Freiburg and Földi Clinic, Merzhausen, Germany

VASCERN PPL European Reference Centre, European Centre for Lymphology

 

Dr. Michael OBERLIN
Specialist in internal medicine
Wound Management / Lymphology

 

Prof. Jochen RÖßLER
Pediatric Hematology/Oncology

 

 

 

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PORTUGAL

ePAG Deputy Co-Chair

Manuela LOURENÇO MARQUES

 

AFFILIATED PARTNERS

There are 2 types of affiliated partners:

  1. 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.
  2. 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

Captureslovenia

SLOVENIA

University Medical Centre Ljubljana, Ljubljana, Slovenia

Dermatovenereological clinic

 

Dr. Tanja PLANINŠEK RUČIGAJ
Dermatologist

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

An Overview of Pediatric and Primary Lymphedema

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

Compression in Pediatric and Primary Lymphedema

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).

Cellulitis / Erysipelas in Pediatric and Primary Lymphedema

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).

Lymphedema from a child’s perspective

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

 

 

 

 

 

Netherlands

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)

Germany

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).

UK

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Charter of Care for Children and Young People with Lymphoedema

CLSIG Childhood Lymphoedema Diagnostic and Assessment pathways

St. George’s Paediatric Investigation Tool for patients with primary lymphoedema

Classification and Diagnostic Algorithm for Primary Lymphatic Dysplasia

Supporting documents and clinic information are available here

France

The PNDS (French National Protocol for care in Rare Disease) for PPL

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.

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

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