Congenital erythrocytosis (CE) is an extremely rare disease and an infrequent cause of heamoglobin and haematocrit elevation. Genetic testing of CE is not widely available. Patients in whom a cause of erythrocytosis is not identified are classified as idiopathic erythrocytosis (IE) patients. In some types of CE thrombotic events have been reported but there is little hard evidence to advise on management in asymptomatic patients. Similarly is true for patients with IE. We describe a young patient who suffered several thromboembolic complications before the diagnosis of CE type 4 was established.

中文翻译：

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先天性红细胞增多症——复发性血栓形成的一种情况：病例报告和文献回顾

先天性红细胞增多症 (CE) 是一种极为罕见的疾病，很少引起血红蛋白和红细胞比容升高。CE的基因检测并未广泛应用。未确定红细胞增多症原因的患者被归类为特发性红细胞增多症 (IE) 患者。在某些类型的 CE 血栓事件中已有报道，但几乎没有确凿的证据建议对无症状患者进行管理。IE 患者也是如此。我们描述了一名年轻患者，他在确定 CE 4 型诊断之前患有多种血栓栓塞并发症。