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先天性出血性疾病:成年血友病患者中枢神经系统出血的管理

Congenital Bleeding Disorders: Managing Central Nervous System Bleeding in an Adult Hemophiliac.

作者信息

Dahra Anurag, Mehdi Zainab, Gupta Monica, Patle Vijendra, Sharan Seema

机构信息

General Medicine, Government Medical College and Hospital Chandigarh, Chandigarh, IND.

General Medicine/Emergency Medicine, Government Medical College and Hospital Chandigarh, Chandigarh, IND.

出版信息

Cureus. 2023 Mar 30;15(3):e36906. doi: 10.7759/cureus.36906. eCollection 2023 Mar.

DOI:10.7759/cureus.36906
PMID:37128522
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10148606/
Abstract

Congenital bleeding disorders remain a challenge to healthcare in the developing world. Despite the initiation of gene therapy almost five decades ago, the natural history of hemophilia remains the same. The cost of concentrated plasma factors, the development of a high titer of inhibitors in severe hemophilia A (HA), and the associated enhanced propensity of ICH make advancements in disease management questionable. Severe cases of hemophilia die young due to spontaneous central nervous system bleeds due to the lack of standard guidelines for plasma concentrate replacement and the limited availability of products due to the associated economic burden. Monoclonal antibodies, although a promising option as a standardized prophylactic treatment, remain underutilized due to availability and accessibility issues. Here, we report the case of a 28-year-old male with HA who presented to the emergency with a progressively worsening headache, nausea, and elevated blood pressure. He had an intracerebral hemorrhage (ICH) successfully managed with decongestants and factor VIII supplementation.

摘要

先天性出血性疾病仍然是发展中国家医疗保健面临的一项挑战。尽管近五十年前就已开始基因治疗,但血友病的自然病程依然如故。浓缩血浆因子的成本、重度甲型血友病(HA)中高滴度抑制剂的产生,以及与之相关的颅内出血(ICH)倾向增加,使得疾病管理方面的进展受到质疑。由于缺乏血浆浓缩物替代的标准指南,以及相关经济负担导致产品供应有限,重度血友病患者常因自发性中枢神经系统出血而过早死亡。单克隆抗体尽管作为一种标准化预防性治疗手段很有前景,但由于可及性和可得性问题,其使用仍然不足。在此,我们报告一例28岁患HA的男性病例,该患者因头痛逐渐加重、恶心及血压升高前来急诊。他发生了一次颅内出血(ICH),通过使用减充血剂和补充凝血因子VIII成功得到治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0ba/10148606/eff65c473b7a/cureus-0015-00000036906-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0ba/10148606/a3fe986b790b/cureus-0015-00000036906-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0ba/10148606/eff65c473b7a/cureus-0015-00000036906-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0ba/10148606/a3fe986b790b/cureus-0015-00000036906-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0ba/10148606/eff65c473b7a/cureus-0015-00000036906-i02.jpg

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本文引用的文献

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Indian J Hematol Blood Transfus. 2022 Oct;38(4):703-709. doi: 10.1007/s12288-022-01539-9. Epub 2022 May 6.
2
Emicizumab state-of-the-art update.依美珠单抗最新进展。
Haemophilia. 2022 May;28 Suppl 4(Suppl 4):103-110. doi: 10.1111/hae.14524.
3
Intracranial Haemorrhage in Haemophilia Patients Is Still an Open Issue: The Final Results of the Italian EMO.REC Registry.血友病患者颅内出血仍是一个未解决的问题:意大利EMO.REC注册研究的最终结果
J Clin Med. 2022 Apr 1;11(7):1969. doi: 10.3390/jcm11071969.
4
Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders.出血性疾病患者颅内出血的风险与管理
Semin Thromb Hemost. 2022 Apr;48(3):344-355. doi: 10.1055/s-0041-1740566. Epub 2022 Jan 6.
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Can we do something about ICH in hemophilia?我们能对血友病中的颅内出血做点什么吗?
Blood. 2021 Dec 30;138(26):2750-2751. doi: 10.1182/blood.2021013536.
6
Incidence and mortality rates of intracranial hemorrhage in hemophilia: a systematic review and meta-analysis.血友病患者颅内出血的发病率和死亡率:一项系统评价和荟萃分析。
Blood. 2021 Dec 30;138(26):2853-2873. doi: 10.1182/blood.2021011849.
7
Management of intracranial hemorrhage in hemophilia A patients.甲型血友病患者颅内出血的管理
Childs Nerv Syst. 2020 Sep;36(9):2041-2046. doi: 10.1007/s00381-020-04528-3. Epub 2020 Feb 5.
8
Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors.艾美赛珠单抗预防无抑制剂的血友病 A 患者出血。
N Engl J Med. 2018 Aug 30;379(9):811-822. doi: 10.1056/NEJMoa1803550.
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Intracranial hemorrhage in congenital bleeding disorders.先天性出血性疾病中的颅内出血
Blood Coagul Fibrinolysis. 2018 Jan;29(1):1-11. doi: 10.1097/MBC.0000000000000660.
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Spontaneous intracerebral hemorrhage in hemophiliacs-A treatment dilemma.血友病患者的自发性脑出血——治疗困境
Int J Surg Case Rep. 2016;29:17-19. doi: 10.1016/j.ijscr.2016.10.046. Epub 2016 Oct 25.