Although congenital erythrocytosis (CE), an inherited disorder, impairs pediatric quality of life, physicians often overlook high hemoglobin (Hgb) levels and its symptoms due to lack of knowledge of age-adjusted pediatric Hgb levels and CE’s rarity. In a retrospective, single-center study, data from hospital records of pediatric patients diagnosed with CE were evaluated. Twenty-six patients from 25 families (80.8% male) had been diagnosed with CE in 20 years, at a mean age of 14.9 ± 2.8 years (8.3–17.8) and with a mean Hgb level of 17.36 ± 1.44 g/dL (14.63–22.1). No serum erythropoietin levels exceeded the reference levels. Although the most common symptom was headache (85%), 38% of patients presented with at least one gastrointestinal symptom (e.g., nausea, vomiting, abdominal pain, and rectal bleeding), and 54% exhibited plethora. No patient had leukocytosis, thrombocytosis, JAK2 mutation; capillary oxygen saturation, venous blood gas analysis, and Hgb electrophoresis revealed no abnormalities. While 34.6% of patients had family histories of CE, 42.3% had 15–45-year-old relatives who had experienced myocardial infarction, stroke, and/or sudden death. Aspirin was routinely prescribed, and phlebotomy was performed when hyperviscosity symptoms were present. To detect CE, physicians should consider age-adjusted normal Hgb levels in children. Pediatric patients with CE may also present with gastrointestinal symptoms. Although no thrombotic episode occurred among the patients, their family histories included life-threatening thrombotic episodes, even in adolescents.

尽管先天性红细胞增多症 (CE) 是一种遗传性疾病，会损害儿科的生活质量，但由于缺乏对年龄调整的儿科 Hgb 水平和 CE 的罕见性的了解，医生往往会忽视高血红蛋白 (Hgb) 水平及其症状。在一项回顾性单中心研究中，对诊断为 CE 的儿科患者的医院记录数据进行了评估。来自 25 个家庭的 26 名患者（80.8% 为男性）在 20 年内被诊断为 CE，平均年龄为 14.9 ± 2.8 岁 (8.3–17.8)，平均 Hgb 水平为 17.36 ± 1.44 g/dL (14.63 –22.1)。没有血清促红细胞生成素水平超过参考水平。虽然最常见的症状是头痛 (85%)，但 38% 的患者出现至少一种胃肠道症状（例如恶心、呕吐、腹痛和直肠出血），54% 的患者表现出过多。JAK2突变；毛细血管血氧饱和度、静脉血气分析和 Hgb 电泳未见异常。虽然 34.6% 的患者有 CE 家族史，但 42.3% 的患者有 15-45 岁的亲属经历过心肌梗塞、中风和/或猝死。常规处方阿司匹林，并在出现高粘血症症状时进行静脉切开术。为了检测 CE，医生应考虑儿童的年龄调整后正常 Hgb 水平。患有 CE 的儿科患者也可能出现胃肠道症状。尽管患者中没有发生血栓事件，但他们的家族史包括危及生命的血栓事件，甚至在青少年中也是如此。