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Consensus recommendations on lymphedema in Phelan-McDermid syndrome
Robert J Damstra1, Stéphane Vignes2,
1VASCERN PPL European Reference Centre: Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands.
European Journal of Medical Genetics
|April 19, 2023
Summary
Phelan-McDermid syndrome (PMS) can cause lymphedema in some individuals, particularly those with 22q13.3 deletions. Early diagnosis and multidisciplinary care are crucial for managing this neurodevelopmental disorder complication.
Area of Science:
- Genetics and Developmental Biology
- Clinical Medicine
- Pediatrics
Background:
- Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder linked to 22q13.3 deletions or SHANK3 gene variants.
- Lymphedema affects 10-25% of individuals with PMS due to 22q13.3 deletions, but not SHANK3 variants.
- Understanding lymphedema in PMS is essential for developing clinical guidelines.
Purpose of the Study:
- To review current knowledge on lymphedema in Phelan-McDermid syndrome.
- To establish clinical recommendations for managing lymphedema in PMS patients.
- To highlight the importance of early detection and intervention.
Main Methods:
- Literature review on lymphedema in Phelan-McDermid syndrome.
- Analysis of clinical features and progression of lymphedema.
- Synthesis of existing management strategies for lymphedema.
Main Results:
- Lymphedema in PMS presents as pitting or non-pitting swelling, often in extremities.
- The underlying mechanism of lymphedema in PMS remains unknown.
- Lymphedema can be progressive and impact daily functioning if untreated.
Conclusions:
- Lymphedema management in PMS should follow general multidisciplinary guidelines, considering individual functioning.
- Addressing risk factors like inactivity and obesity is important.
- Expert multidisciplinary centers are optimal for diagnosis and treatment of PMS-related lymphedema.
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