Aylan Gelen Sema, Sarper Nazan, Zengin Emine, Tahsin İnci, Azizoğlu Mehmet
Division of Pediatric Hematology, Department of Pediatrics, Kocaeli University, Umuttepe, 41380 Kocaeli, Turkey.
Indian J Hematol Blood Transfus. 2022 Apr;38(2):366-372. doi: 10.1007/s12288-021-01484-z. Epub 2021 Aug 25.
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, 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，会损害儿童的生活质量，但由于缺乏对年龄调整后的儿童血红蛋白（Hgb）水平的了解以及CE的罕见性，医生常常忽视高血红蛋白水平及其症状。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年中被诊断为CE，平均年龄为14.9±2.8岁（8.3 - 17.8岁），平均血红蛋白水平为17.36±1.44 g/dL（14.63 - 22.1）。血清促红细胞生成素水平均未超过参考水平。尽管最常见的症状是头痛（85%），但38%的患者至少出现一种胃肠道症状（如恶心、呕吐、腹痛和直肠出血），54%的患者表现为多血质。没有患者出现白细胞增多、血小板增多、突变；经皮氧饱和度、静脉血气分析和血红蛋白电泳均未发现异常。虽然34.6%的患者有CE家族史，但42.3%的患者有15 - 45岁的亲属曾经历过心肌梗死、中风和/或猝死。常规开具阿司匹林，当出现高黏滞症状时进行放血治疗。为了检测CE，医生应考虑儿童年龄调整后的正常血红蛋白水平。患有CE的儿科患者也可能出现胃肠道症状。尽管患者中未发生血栓事件，但他们的家族史中包括危及生命的血栓事件，甚至在青少年中也有。
