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血管型埃勒斯-当洛综合征与血小板功能障碍及血清维生素D浓度降低有关。

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.

作者信息

Busch Albert, Hoffjan Sabine, Bergmann Frauke, Hartung Birgit, Jung Helena, Hanel Daniela, Tzschach Andeas, Kadar Janos, von Kodolitsch Yskert, Germer Christoph-Thomas, Trobisch Heiner, Strasser Erwin, Wildenauer René

机构信息

Department for General, Visceral, Vascular & Paediatric Surgery, University Hospital of Würzburg - ZOM, Oberduerrbacher str 6, 97080, Würzburg, Germany.

Department of Human Genetics, Ruhr-University, Bochum, Germany.

出版信息

Orphanet J Rare Dis. 2016 Aug 3;11(1):111. doi: 10.1186/s13023-016-0491-2.

Abstract

BACKGROUND

The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations.

RESULTS

22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity.

CONCLUSION

The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.

摘要

背景

血管型是埃勒斯-当洛综合征(EDS)中一种非常罕见但临床上最致命的类型。患者常因动脉出血入院,脆弱的组织和改变的凝血功能给治疗策略带来挑战。到目前为止,关于可能对止血产生决定性影响并最终使紧急情况恶化的凝血特征的信息很少。

结果

通过现代标准实验室方法对22例血管型EDS患者进行了血红蛋白、血小板体积和计数、凝血酶原时间和活化部分凝血活酶时间、纤维蛋白原、因子 XIII、血管性血友病、维生素D和血小板聚集的研究。结果显示,血管型EDS患者中血小板聚集障碍的患病率超过50%,尤其是胶原和肾上腺素诱导试验,而血浆级联反应未显示任何改变。此外,超过一半的受试对象维生素D血清水平较低,这可能会额外影响血管壁完整性。

结论

所呈现的数据强调了对血管型EDS患者进行详细实验室筛查方法的重要性,以便有针对性地应用可能在紧急情况下具有决定性益处的血小板相互作用物质。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4029/4971646/c8429e941810/13023_2016_491_Fig1_HTML.jpg

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