Etiology, Diagnosis, and Genetic Analysis of Polycythemia in Pediatric Population

Polycythemia is an uncommon hematological issue in children, and its evaluation, diagnosis, and management are not well understood. This study aimed to assess children with polycythemia using a specific algorithm.

This retrospective study involved pediatric patients seen between January 1, 2017, and December 31, 2021, who were diagnosed with polycythemia. The study evaluated the demographic information, clinical symptoms, laboratory and imaging findings, and genetic analysis results of the patients.

The study involved 109 pediatric patients with a median age of 16 years (range: 5–17). A majority of the patients (88.1%) did not use any medications. Thirty-nine patients (35.8%) exhibited clinical symptoms, with the most common symptom being headaches observed in 22 patients (20.2%). Abdominal ultrasound (USG) examinations revealed solid organ pathology in 12 patients (11%). Of the patients, six (5.5%) tested positive for the JAK2 V617F genetic mutation, and 82 patients (75.2%) showed elevated levels of erythropoietin. Additionally, 21 patients (19.3%) were diagnosed with idiopathic polycythemia. The frequency of positive family history for polycythemia was significantly higher in patients with the genetic mutation compared to those without the mutation (50.0% vs. 7.8%, p < 0.001).

Two-thirds of childhood polycythemia cases may be asymptomatic. Abdominal USG can help identify significant etiological factors. It is recommended to perform JAK2 V617F mutation analyses as the primary step in selected cases. Moreover, families of patients with genetic mutations should be investigated for polycythemia.