A tendency to bleed during scoliosis surgery has been reported repeatedly in Duchenne muscular dystrophy (DMD) and diagnostic studies show a prolonged bleeding time. The pathophysiological background is still not fully understood. The short dystrophin isoform dp71 is expressed in platelets and mediates contractile properties. We performed a bicentric, non-blinded, prospective diagnostic study in 53 patients with confirmed DMD. Extensive laboratory analyses included platelet aggregometry and platelet flow cytometry, as well as routine coagulation analyses. Results of laboratory diagnostics were correlated with clinical data. Patients were subgrouped and analyzed according to ambulatory status and cardiac involvement. Platelet aggregation was reduced after stimulation with ADP (adenosine triphosphate) [60%; reference range 66-84%]. In addition, in the DMD cohort the expression of platelet activation markers CD62 and CD63 (flow cytometry analyses) was significantly lower than in healthy controls, most prominent in non-ambulatory patients with cardiac involvement. There was no clear association with the location of the underlying mutations in the dystrophin gene. No further abnormalities were identified regarding primary or secondary hemostasis. This study shows that platelets of patients with DMD have decreased expression of CD62 and CD63 which are markers for platelet granule release. This may indicate that patients with DMD have an impaired platelet granule secretion which may explain to some extent the increased bleeding, especially in mucocutaneous areas and perioperatively.

中文翻译：

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杜氏肌营养不良症患者血小板颗粒的分泌受损——一项前瞻性诊断研究的结果

在杜氏肌营养不良症 (DMD) 中反复报告了脊柱侧弯手术过程中出血的倾向，并且诊断研究显示出血时间延长。病理生理学背景仍未完全了解。短肌营养不良蛋白同种型 dp71 在血小板中表达并介导收缩特性。我们对 53 名确诊的 DMD 患者进行了一项双中心、非盲法、前瞻性诊断研究。广泛的实验室分析包括血小板聚集测定和血小板流式细胞术，以及常规凝血分析。实验室诊断结果与临床数据相关。根据走动状态和心脏受累情况对患者进行分组和分析。用 ADP（三磷酸腺苷）刺激后血小板聚集减少 [60%; 参考范围 66-84%]。此外，在 DMD 队列中，血小板活化标志物 CD62 和 CD63（流式细胞术分析）的表达显着低于健康对照，在心脏受累的非走动患者中最为突出。与抗肌萎缩蛋白基因中潜在突变的位置没有明确的关联。没有发现关于原发性或继发性止血的进一步异常。该研究表明，DMD 患者的血小板中 CD62 和 CD63 的表达降低，这是血小板颗粒释放的标志物。这可能表明 DMD 患者的血小板颗粒分泌受损，这可能在一定程度上解释了出血增加，尤其是在皮肤粘膜区域和围手术期。