Clinical Characteristics of Pediatric Patients with Congenital Erythrocytosis: A Single Center Study

Abstract

Background: Although congenital erythrocytosis (CE), an inherited\ndisorder, impairs pediatric quality of life, physicians often overlook\nhigh hemoglobin (Hgb) levels and its symptoms due to lack of knowledge\nof age-adjusted pediatric Hgb levels and CE’s rarity. Methods: In a\nretrospective, single-center study, data from hospital records of\npatients (<18 years) diagnosed with CE were evaluated.\nResults: Forty patients from 39 families (male: female ratio = 7:1) had\nbeen diagnosed with CE in a 20-year period, at a mean age of 15.31 ±\n2.49 years (8.34–17.92) and with mean Hgb levels of 17.4 ± 1.34 g/dL\n(14.63–23.0). No serum erythropoietin levels exceeded the reference\nlevels. Although the most common symptom was headache (80.0%), 40.0%\nof patients presented with at least one gastrointestinal symptom (e.g.,\nnausea, vomiting, abdominal pain, and rectal bleeding), and 75.0%\nexhibited plethora. None had leukocytosis, thrombocytosis, abnormal\ncapillary oxygen saturation, JAK2 mutation, and venous blood gas\nanalysis and Hgb electrophoresis revealed no abnormalities. While 43.6%\nof patients had family histories of CE, 28.2% had 15–48-year-old\nrelatives who had experienced myocardial infarction, stroke, and/or\nsudden death. Six asymptomatic patients were detected incidentally. When\nsymptoms of hyperviscosity were present, aspirin was prescribed, and\nphlebotomy performed. No thrombotic episodes occurred as a result.\nConclusion: To detect CE, physicians should assess Hgb levels in\nconsideration of normal age-adjusted levels in children. Pediatric\npatients with CE may also present with gastrointestinal symptoms.\nAlthough no thrombotic episode occurred among the patients, their family\nhistories included life-threatening thrombotic episodes, even in\nadolescents.