Laugier P
Ann Dermatol Venereol. 1978 Dec;105(12):1055-8.
Rendu-Osler disease, hereditary hemorrhagic telangiectasia is a genetic disorder, autosomal dominent. Telangiectasia of the skin, face, trunk, upper and lower extremities are associated with angiomas of the oral and nasopharyngal membranes, lips, tongue and internal organs (intestine tract, liver, spleen, blood, lung, brain). They are source of melena, hematemesis, hematuria, hemoptysis with severe anemia.
dilated blood vessels forming cavernous spaces, flattened endothelial cells, no perivascular infiltration, degeneration of the perivascular connective tissue, elastic and muscular fibers missing around the vessels. Therefore hemorrhages are not able to stop spontaneously. Ultrastructural changes : formation of gaps along the thinned-out endothelial lining of dilated vessels, gaps plugged with thrombi. Anormal perivascular collagenous tissue, perivascular smooth muscles elongated and irregular in shape, did not surround the vessels. Liver cirrhosis and blood loss (gastrointestinal hemorrhages sometimes massive) are the only digestive manifestation of the severity. Systematic replacement of iron and blood transfusions are the most helpful forms of treatment.
遗传性出血性毛细血管扩张症（Rendu - Osler病）是一种常染色体显性遗传疾病。皮肤、面部、躯干、上下肢的毛细血管扩张与口腔及鼻咽黏膜、嘴唇、舌头和内脏器官（肠道、肝脏、脾脏、血液、肺、脑）的血管瘤相关。它们是导致黑便、呕血、血尿、咯血伴严重贫血的根源。
扩张的血管形成海绵状间隙，内皮细胞扁平，无血管周围浸润，血管周围结缔组织变性，血管周围弹性纤维和肌纤维缺失。因此出血无法自行停止。超微结构改变：扩张血管变薄的内皮衬里沿线形成间隙，间隙被血栓堵塞。异常的血管周围胶原组织，血管周围平滑肌拉长且形状不规则，未环绕血管。肝硬化和失血（有时为大量胃肠道出血）是严重程度的唯一消化系统表现。系统性铁剂替代和输血是最有效的治疗方式。
