真性红细胞增多症

最后审阅: 2 六月 2022
最后更新: 25 二月 2022

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 血栓的特征
更多 关键诊断因素

其他诊断因素

  • 出血的特征
  • 无症状
  • 头痛
  • 全身无力/疲乏
  • 瘙痒
  • 盗汗和骨痛
  • 红斑性肢痛症
  • 手指、手掌、脚趾、脚跟发红
  • 面色发红
  • 脾肿大
其他诊断因素

危险因素

  • 受影响的家庭成员
  • 年龄>40 岁
  • Budd-Chiari 综合征(Budd-Chiari Syndrome, BCS)
更多 危险因素

诊断性检查

首要检查

  • 血红蛋白
  • 红细胞比容
  • 白细胞(WBC)计数
  • 血小板计数
  • 平均红细胞体积 (MCV)
  • 肝功能检查 (LFTs)
  • JAK2 基因突变筛查
更多 首要检查

需考虑的检查

  • 血氧饱和度
  • 血红蛋白-氧亲和力(P50)
  • 血清促红细胞生成素
  • 红细胞(RBC)总量
  • 检测除 JAK2 之外的基因组异常
  • 血清铁蛋白
  • 血清尿酸
  • 腹部超声
  • 内源性红系集落
  • 骨髓活检
  • 血管成像
更多 需考虑的检查

治疗流程

急症处理

非妊娠成人:血栓风险较低/中等,无显著的血小板增多

非妊娠成人:血栓风险高,无显著的血小板增多

非妊娠成人:显著血小板增多

妊娠

儿童

持续性治疗

非妊娠患者:不耐受其他治疗药物(包括羟基脲、芦可替尼和干扰素)、高龄或者预期寿命短

撰稿人

作者

Prithviraj Bose, MD

Associate Professor

Leukemia Department

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

利益声明

PB has consulted for Incyte and delivered lectures and other educational events for Incyte and Celgene (now BMS). He has participated in advisory boards for Incyte, Celgene (now BMS), Blueprint Medicines, CTI Biopharma and Kartos. PB has received grants from Incyte, Celgene (now BMS), Blueprint Medicines, CTI Biopharma, Kartos, Constellation, Astellas, Pfizer, NS Pharma and Promedior.

Srdan Verstovsek, MD, PhD

Professor

Department of Leukemia

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

利益声明

SV declares that he has no competing interests.

鸣谢

Dr Prithviraj Bose and Dr Srdan Verstovsek would like to gratefully acknowledge Dr Constantine Tam, Dr Scott J. Samuelson, and Dr Josef T. Prchal, previous contributors to this topic.

利益声明

CT, SJS, and JTP declare that they have no competing interests.

同行评议者

Christopher Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

利益声明

CP declares that he has no competing interests.

Ross Levine, MD

Assistant Member

Human Oncology and Pathogenesis Program Leukemia Service

Department of Medicine

Memorial Sloan Kettering Cancer Center

New York

NY

利益声明

None declared.

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