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Pediatric Lymphedema: Study of 180 Patients Referred to a Tertiary Lymphedema Clinic
Caroline Colmant1, Sophie Turpin2, Raymond Lambert2
125461 Dermatology Division, Department of Pediatrics, Sainte-Justine University Hospital Center University of Montreal, Montreal, Quebec, Canada.
Insights
Pediatric lymphedema, often primary, affects lower limbs and is more common in girls. Genetic testing is recommended as many cases involve genetic mutations, even if sporadic.
Area of Science:
- Pediatric Medicine
- Genetics
- Lymphatic System Disorders
Background:
- Lymphedema results from lymphatic system dysfunction, presenting as primary or secondary forms.
- Pediatric lymphedema is predominantly primary, posing a significant chronic burden on a child's quality of life.
Purpose of the Study:
- To analyze the clinical characteristics and genetic underpinnings of pediatric lymphedema.
- To identify demographic, clinical, and genetic factors associated with primary pediatric lymphedema.
Main Methods:
- Retrospective review of medical records for patients under 18 referred to a specialized lymphedema clinic (1996-2021).
- Data collected included demographics, clinical presentation, genetic testing results, and associated conditions.
- Statistical analysis to compare characteristics between sexes and identify significant associations.
Main Results:
- Of 151 confirmed lymphedema cases, 137 were primary. Median age of onset was 7 years, earlier in boys than girls.
- Lower limbs were most affected (88.3%). Primary congenital lymphedema was more frequent in boys, while adolescent onset was more common in girls.
- Genetic mutations were found in 63.3% of tested patients, with FLT4 being the most common mutated gene. Syndromic lymphedema occurred in 17.6%.
Conclusions:
- Pediatric lymphedema predominantly affects girls and lower limbs, often being sporadic but frequently linked to genetic mutations.
- Genetic testing is crucial for diagnosis and understanding the etiology of pediatric lymphedema.
- Early identification and genetic analysis can inform management and genetic counseling for affected families.
Background:
Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life.
Methods:
Medical records of patients under 18 years of age referred between 1996 and 2021 to the specialized lymphedema clinic at the Sainte-Justine University Hospital Center were reviewed. Demographic data, sex, age at presentation, location of the lymphedema, clinical features, genetic testing, symptoms, complications, investigations, and treatment were collected.
Results:
Of 180 referred patients, lymphedema was confirmed in 151, and 137 were primary lymphedema. Median age of apparition of primary lymphedema was 7.00 years and was significantly lower in boys than in girls. Primary congenital lymphedema was more frequent in boys (51.0%, 27.3% in girls, P = .007), and onset of primary lymphedema during adolescence was more frequent in girls (53.4%, 25.0% in boys, P = .001). Lower limbs were the most impacted (88.3%). Sixty patients had genetic testing, and 38 (63.3%) of them were discovered to have a pertinent genetic mutation. The most common mutated gene was the FLT4 gene (in 9 patients). Seven patients (5.1%) had associated extensive/central lymphatic malformation and 24 (17.6%) had a polymalformative syndrome/syndromic lymphedema.
Conclusions:
Pediatric lymphedema is more frequent in girls, usually involves lower limb, and is most often sporadic, but often associated with a genetic mutation, and genetic testing should be performed.
