丙戊酸致因子X缺乏症一例

IF 3.4 3区医学 Q2 HEMATOLOGY

Research and Practice in Thrombosis and Haemostasis Pub Date : 2025-02-01 DOI:10.1016/j.rpth.2025.102721

Pierre-Antonin Rigon , Vincent Ernest

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引用次数: 0

摘要

因子X （FX）缺乏（FXD）显著破坏凝血，可能导致严重出血。虽然遗传性FXD很罕见，患病率为50万分之一，但获得性FXD也很罕见，而且经常与轻链淀粉样变性等疾病有关。在极少数情况下，某些药物会导致口蹄疫。在此，我们报告一例罕见的丙戊酸（VPA）致获得性肺心病。这种缺陷与抗fx抗体的存在有关。临床方法一名65岁男性，因各种疾病（包括慢性肾脏疾病和2型糖尿病）接受治疗，在服用VPA治疗癫痫后出现严重的FXD（活度<；2 U/L）。在FXD期间，患者出现了明显的出血发作，需要用凝血酶原复合物代替FX。停用VPA后，FX活性在9天内改善，可能提示该药在FXD中的作用。有趣的是，针对FX的抗体已经被鉴定出来。结论本病例强调了临床医生警惕与VPA相关的止血障碍的必要性，尽管这种情况很少发生。

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A rare case of factor X deficiency induced by valproic acid

Background

Factor X (FX) deficiency (FXD) significantly disrupts coagulation, potentially leading to severe bleeding. While inherited FXD is rare, with a prevalence of 1 in 500,000, acquired FXD is also uncommon and frequently linked to conditions such as light-chain amyloidosis. In rare cases, certain medications can cause FXD.

Key Clinical Question

Here, we present a rare case of acquired FXD induced by valproic acid (VPA). This deficiency is associated with the presence of anti-FX antibodies.

Clinical Approach

A 65-year-old man undergoing treatment for various conditions, including chronic kidney disease and type 2 diabetes, developed severe FXD (activity <2 U/L) following VPA administration for epilepsy. During FXD, the patient experienced significant bleeding episodes, necessitating FX replacement with prothrombin complex concentrate. Upon discontinuation of VPA, FX activity improved in 9 days, possibly suggesting a role of the drug in FXD. Interestingly, antibodies directed against FX have been identified.