最近审阅: 27 十月 2020
最近更新: 31 十月 2019

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 复发性或重度出血病史
  • 肌肉出血
  • 足跟采血或包皮环切术后持续出血
  • 黏膜皮肤出血
  • 关节积血
  • 颅内出血

其他诊断因素

  • 过度淤青/血肿
  • 疲劳
  • 月经过多和手术操作或分娩后出血(女性携带者)
  • 广泛的皮肤紫癜(获得性血友病)
  • 消化道出血和血尿
  • 腹部发胀和疼痛
  • 苍白、心动过速、呼吸急促或低血压

危险因素

  • 血友病家族史(先天性血友病)
  • 男性(先天性血友病)
  • 60 岁以上(获得性血友病)
  • 自身免疫性疾病、炎症性肠病、糖尿病、肝炎、妊娠、产后或恶性肿瘤(获得性血友病)

诊断性检查

首要检查

  • 活化部分凝血活酶时间 (aPTT)
  • 血浆 VIII 和 IX 因子检测
  • 混合试验
  • 全血细胞计数(FBC)
  • 凝血酶原时间 (PT)
  • 血浆 von Willebrand 因子检测
  • 血浆 V 和 VII 因子检测
  • 血浆 XI 和 XII 因子检测
  • 闭合时间/出血时间和血小板聚集试验
  • 血清肝脏转氨酶(天冬氨酸氨基转移酶 [AST] 和丙氨酸氨基转移酶 [ALT])
  • 特定骨骼部位的 X 线平片
  • 通过羊水诊断或绒毛取样 (CVS) 进行出生前 VIII 或 IX 因子突变分析
更多 首要检查

需考虑的检查

  • 头部或颈部 CT
  • 头部或颈部 MRI
  • 腹部超声或腹腔盆腔 CT 扫描
  • 食管胃十二指肠镜或结肠镜检查
  • 血液 VIII 或 IX 因子突变分析
  • 血浆 VIII 或 IX 因子抑制剂筛查
  • Bethesda 方法/改良的 Bethesda 方法(使用血浆样本)
更多 需考虑的检查

治疗流程

撰稿人

Clinical Professor

Departments of Medicine, Pediatrics and Oncology

Cumming School of Medicine

University of Calgary

Calgary

Canada

利益声明

M-CP has been an ad hoc speaker for Bayer, Novo Nordisk, and Pfizer; attended advisory board meetings of Biogen Idec, Baxalta/Shire, CSL Behring, Novo Nordisk, Octapharma, Pfizer, and Roche; received grant funding from CSL Behring and Bayer; and undertaken contract research for Novo Nordisk.

Clinical Assistant Professor

Department of Medicine

Cumming School of Medicine

University of Calgary

Calgary

Canada

利益声明

AL declares that she has no competing interests.

Professor Poon and Dr Lee would like to gratefully acknowledge Dr Nigel S. Key, Dr Paul Giangrande, Dr Nidra I. Rodriguez, and Dr W. Keith Hoots, the previous contributors to this topic.

利益声明

NSK has undertaken paid consultancy for Baxter Biosciences, Novo Nordisk, CSL Behring, and Bayer. He has received grant funding from Baxter. PG has undertaken paid consultancy and/or received lecture fees from the following companies involved in haemophilia care: Bayer, CSL Behring, NovoNordisk, Pfizer/ BPL, Octapharma, Biogen Idec, and Biotest. NSK, NIR, and WKH are authors of reference(s) cited in this topic.

同行评议者展开全部内容

The Mary Weinfeld Professor of Clinical Research in Hemophilia

Mount Sinai School of Medicine

New York

NY

利益声明

LA declares that he has no competing interests.

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

利益声明

CP declares that he has no competing interests.

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