Geisthoff Urban, Nguyen Ha-Long, Lefering Rolf, Maune Steffen, Thangavelu Kruthika, Droege Freya
Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35043 Marburg, Germany.
Morbus Osler-Selbsthilfe e.V. (German HHT Self-Help Group), 89264 Weissenhorn, Germany.
J Clin Med. 2020 May 17;9(5):1507. doi: 10.3390/jcm9051507.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. They were then surveyed for information concerning their dominant hand, exposure to sunlight, and types of regular manual work. Patients developed more telangiectases on their dominant hand and lower lip (Wilcoxon rank sum test: < 0.001). Mechanical stress induced by manual work led to an increased number of telangiectases on patients' hands (Mann-Whitney U test: < 0.001). There was also a positive correlation between sun exposure and the number of telangiectases on the lips (Mann-Whitney U test: 0.027). This study shows that mechanical and UV-induced trauma strongly influence the formation of telangiectases in HHT patients. This result has potential implications in preventive measures and on therapeutic approaches for HHT.
遗传性出血性毛细血管扩张症(HHT)是一种纤维血管组织的常染色体显性疾病,会导致内脏血管畸形以及(黏膜)皮肤毛细血管扩张,并伴有反复出血。该疾病背后的机制尚未完全明确;然而,来自HHT小鼠模型的观察结果表明,机械创伤可能会诱导异常血管的形成。为了评估环境创伤(机械或光诱导)对HHT患者毛细血管扩张数量的影响,对103名符合四项库拉索标准中至少三项的HHT患者手部、面部和嘴唇上的毛细血管扩张数量进行了计数。然后对他们进行调查,了解其优势手、阳光暴露情况以及日常体力劳动类型等信息。患者优势手和下唇出现的毛细血管扩张更多(威尔科克森秩和检验:<0.001)。体力劳动引起的机械应力导致患者手部的毛细血管扩张数量增加(曼-惠特尼U检验:<0.001)。阳光暴露与嘴唇上的毛细血管扩张数量之间也存在正相关(曼-惠特尼U检验:0.027)。这项研究表明,机械和紫外线诱导的创伤对HHT患者毛细血管扩张的形成有强烈影响。这一结果对HHT的预防措施和治疗方法具有潜在意义。