PRIMARY PEDIATRIC LYMPHEDEMA: CLINICAL PRESENTATION, COMPLICATIONS, AND PREVENTION STRATEGIES

Abstract

SUMMARY. The aim – to study the clinical features of the course of primary lymphostasis in children in order to improve early diagnosis and prevent complications.

Material and Methods. A retrospective analysis of 55 medical records of children with lymphatic edema of the lower extremities was performed; isolated primary lymphedema was confirmed in 22 patients aged 5–17 years. The study was conducted at the National Children's Specialized Hospital “OHMATDYT” during 2014–2024, with a minimum follow-up period of ≥36 months. The parameters analyzed included sex, age at onset, localization, progression, complications, and treatment. Diagnosis was based on physical examination (Stemmer’s sign), ultrasound, and MRI of soft tissues. Statistical analysis was performed using IBM SPSS 24.0 software, employing Pearson’s χ² test and the Mann–Whitney U test; p≤0.05 was considered statistically significant.

Results. No statistically significant difference by sex was found (p=0.67). Lower extremity involvement was observed in 81.8 % of patients (p=0.003); bilateral involvement – in 11.1 %; and combination with perineal or external genital edema – in 16.7 %. In boys, disease onset occurred within the first months of life in 60 % of cases (p<0.0001), whereas in girls, onset during puberty was observed in 50 % of cases (p<0.0001). Stemmer’s sign demonstrated high diagnostic accuracy (sensitivity ~92 %, specificity ~57 %). The main complications included recurrent soft tissue inflammation (13.6 %), erysipelas (9.1 %), and lymphorrhea (9.1 %). One patient with an atypical course and leukopenia was found to carry a GATA2 mutation. Disease progression during puberty was noted in 18.2 % of patients. All children received conservative treatment, including daytime compression garments and manual lymphatic drainage; in 27.3 % of cases, additional night bandaging was applied, allowing stabilization of disease progression.

Conclusions. Primary lymphostasis in children predominantly affects the lower extremities, sometimes extending to the perineum and external genitalia. The disease has a slow course without significant functional impairment of the limb. The most common complications are local infectious processes. An atypical course associated with leukopenia may indicate a GATA2 mutation and requires genetic testing. Early diagnosis and timely conservative therapy are effective for preventing complications and controlling disease progression.