Liu N N, Pan L J, Xiao Z J, Xu Z F
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Zhonghua Xue Ye Xue Za Zhi. 2025 Jan 14;46(1):75-80. doi: 10.3760/cma.j.cn121090-20241011-00390.
To enhance the understanding of familial erythrocytosis type 2 (ECYT2) resulting from compound heterozygous mutations in the VHL gene. We conducted a retrospective analysis of the case data from a patient with ECYT2 to investigate its pathogenesis, clinical features, diagnosis and treatment options, as well as prognosis, while also reviewing the relevant literature. A 31-year-old man was admitted to the hospital due to facial and hand flushing that had persisted for 29 years. Whole exome sequencing revealed compound heterozygous mutations in VHL p.P81L and p.N90T. Both of his parents were found to carry only one of these heterozygous mutations, yet they exhibited normal phenotypes. Based on the patient's hematological tests, a clear diagnosis of ECYT2 was established. Following treatment with erythrocytapheresis and daily administration of aspirin at a dosage of 100 mg, the patient experienced relief from dizziness and headaches associated with blood hyperviscosity, without any thrombotic or bleeding complications during this period. ECYT2 is a rare group of autosomal recessive genetic disorders. This case of ECYT2, resulting from compound heterozygous mutations in the VHL gene, represents the first report in China. Clinically, it is characterized by elevated red cell mass, normal or increased serum erythropoietin levels, and normal hemoglobin oxygen affinity levels. These factors contribute to thrombotic and bleeding complications that can lead to early mortality.
为提高对由VHL基因复合杂合突变导致的2型家族性红细胞增多症（ECYT2）的认识。我们对1例ECYT2患者的病例数据进行回顾性分析，以探讨其发病机制、临床特征、诊断和治疗选择以及预后，同时复习相关文献。一名31岁男性因面部和手部潮红持续29年入院。全外显子组测序显示VHL基因存在p.P81L和p.N90T复合杂合突变。其父母均仅携带其中一种杂合突变，但表现出正常表型。根据患者的血液学检查，明确诊断为ECYT2。经红细胞单采术治疗并每日服用100 mg阿司匹林后，患者与血液高黏滞度相关的头晕和头痛症状缓解，在此期间未出现任何血栓形成或出血并发症。ECYT2是一组罕见的常染色体隐性遗传性疾病。该例由VHL基因复合杂合突变导致的ECYT2为中国首例报道。临床上，其特征为红细胞量增加、血清促红细胞生成素水平正常或升高以及血红蛋白氧亲和力水平正常。这些因素会导致血栓形成和出血并发症，进而导致早期死亡。
