PVA微球栓塞遗传性出血性毛细血管扩张症1例分析

对PVA微球栓塞遗传性出血性毛细血管扩张症（HHT）1例分析如下。1病历摘要女,60岁。因反复左上腹闷胀2a,眼黄尿黄0．5a人院。2a前因中上腹闷痛及黑便住我院消化内科,胃镜提示十二指肠球部溃疡,查CT示肝动静脉瘘形成。     

遗传性出血性毛细血管扩张症2例报道

1　病例介绍患者一 :男性 ,3 2岁。自 7～ 8岁时起经常鼻出血 ,量不多 ,且不频繁。近年来逐渐加重 ,经常出现自发性鼻出血 ,偶发于入睡时 ,且量较多。患者二 :患者一之母 ,55岁 ,亦自幼即有鼻出血 ,且渐加重 ,下肢常有瘀斑。在当地检查出、凝血时间及血小板计数均正常。二人经服用维生素Ｃ治疗 ,均无明显效果 ,遂来我院要求查明出血原因。病史及体检结果见表 1。表 1　出血史及体检患者一患者二齿龈出血史 ( ) ( )鼻出血史 ( ) ( )心、肺、腹部均无异常发现鼻粘膜检查干燥干燥红色隆起的毛细血管手背 ( )直径约 1ｍｍ (- )口唇 ( )直径约 1…     

内镜诊治遗传性出血性毛细血管扩张症4例

近 10年来 ,我院经内镜诊治遗传性出血性毛细血管扩张症 (ＨＨＴ) 4例 ,报告如下。1　临床资料和方法1.1　一般资料女 3例 ,男 1例 ,其中 3例为一家人 (母子和母女关系 ) ,年龄 32～ 65岁。表现为黑便及 (或 )呕血入院 ,既往有多年的反复鼻衄史。体检 :皮肤及舌表面多发小血管瘤。超声波探测多有肝受累肝血管畸形的表现。1.2　内镜所见胃及 (或 )十二指肠散在多发红色小隆起 ,直径0 .1～ 0 .3ｃｍ左右 ,顶部可有糜烂 ,用闭合的活检钳头部压之褪色 ,或伴病灶周围渗血。1.3　组织学检查病理示粘膜内毛细血管呈海绵状增生 ,可伴有表浅溃疡。1.4…     

疑似扩张型心肌病的遗传性出血性毛细血管扩张症

目的探讨遗传性出血性毛细血管扩张（hereditary hemorrhagic telangiectasis,HHT）的临床特点,以提高诊断率。方法回顾分析1例疑似扩张型心肌病的HHT临床资料。结果本例因阵发性胸闷、气短5年,加重9d入院。当地医院曾诊断为心力衰竭予利尿剂治疗,症状可暂时缓解。患者有长期自发性鼻出血史及贫血史,皮肤、黏膜有毛细血管扩张表现,结合实验室、心电图、超声及肺动脉血管造影检查结果,确诊为HHT并心功能不全。予相应治疗后病情明显好转出院。结论对临床表现类似扩张型心肌病,且有慢性出血、皮肤黏膜毛细血管扩张及内脏损害者,应警惕HHT可能,及时行相关检查。     

影像学评估遗传性出血性毛细血管扩张症

目的 观察影像学评估遗传性出血性毛细血管扩张症(HHT)的价值。方法 以3例HHT患者为核心,分析对应3个家系共42例的临床及影像学资料,包括颅脑MRI、颅内动脉MR血管造影和颅内静脉MR静脉成像、胸腹平扫及增强CT检查,依据Curacao标准进行临床综合诊断。结果 家系1共20例,4例确诊、7例疑诊HHT,6例影像学可见阳性表现;家系2共17例,3例确诊、5例疑诊HHT,7例影像学可见阳性表现;家系3共5例,2例确诊、1例疑诊HHT,2例影像学可见阳性表现。结论 影像学检查或可作为早期识别HHT的重要途径。     

1例肝脏遗传性出血性毛细血管扩张症病人的护理

遗传性出血性毛细血管扩张症（H HT）是一种少见的常染色体显性遗传病,又称奥斯勒韦伯朗迪病,可累及皮肤、肺、胃肠道等全身组织、器官[1]。国外有研究报道,73%的遗传性出血性毛细血管扩张症病人累及肝脏[2]。随着国内报道的日益增多,其护理也逐渐引起重视,现将1例肝脏遗传性出血性毛细血管扩张症（H H HT）病人围术期护理报告如下。     

1例肝脏遗传性出血性毛细血管扩张症病人的护理

<正>遗传性出血性毛细血管扩张症(HHT)是一种少见的常染色体显性遗传病,又称奥斯勒-韦伯-朗迪病,可累及皮肤、肺、胃肠道等全身组织、器官[1]。国外有研究报道,73%的遗传性出血性毛细血管扩张症病人累及肝脏[2]。随着国内报道的日益增多,其护理也逐渐引起重视,现将1例肝脏遗传性出血性毛细血管扩张症(HHHT)病人围术期护理报告如下。1病例介绍2     

遗传性出血性毛细血管扩张症研究进展

遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)是以毛细血管结构异常、内皮细胞功能异常为特征的常染色体遗传病.患者可因出血、感染等并发症而死亡.HHT患者主要临床表现为反复鼻衄,皮肤黏膜毛细血管扩张,器官尤其是肝、脑、肺、消化道等内脏血管的动静脉畸形,有明...     

1例遗传性出血性毛细血管扩张症并发鼻出血病人的护理

正遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)也称Osler-Weber-Rendu病,是一种由转化生长因子β信号通路相关基因突变的常染色体显性遗传,血管壁的发育异常,基本病理变化为皮肤黏膜的毛细血管、小动脉、小静脉血管壁变薄,有的部位仅由1层血管内皮细胞所组成,周围缺乏弹性结缔组织支撑。典型的病变为皮肤和黏膜出现鲜     

遗传性出血性毛细血管扩张症的研究进展

遗传性出血性毛细血管扩张症是一种常染色体显性遗传病，临床上常表现为鼻血衄、毛细血管扩张、内脏(肺、肝和中枢神经系统)损害。其诊断依据临床表现和阳性家族史。本病具有遗传异质性，已知的致病基因为endoglin和ALK1。目前认为遗传性出血性毛细血管扩张症的分子生物学基础是TGF-β信号转导紊乱引起的血管发育异常。本症治疗以对症支持治疗为主。     

Severe open angle glaucoma in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease. Conjunctival telangiectasias and retinal vascular malformations are known ocular manifestations. We report here the first case of open angle glaucoma in a patient with HHT caused by a nonsense mutation, C471X in the ACVRL1 gene.     

Hereditary hemorrhagic telangiectasia: demonstration of portosystemic venous shunts using power Doppler sonography and sonographically guided percutaneous transhepatic portovenography.

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease associated with vascular abnormalities, which may occur in any organ. Cases of hereditary hemorrhagic telangiectasia accompanied by intrahepatic portosystemic venous shunts, however, have rarely been described. We report a case of hereditary hemorrhagic telangiectasia in which intrahepatic portosystemic shunts were detected using power Doppler sonography and portovenography with percutaneous transhepatic contrast agent injection. On gray-scale sonography, the common hepatic artery was dilated, and dilated tubular structures mimicking dilated biliary tracts were found. Power Doppler sonography demonstrated the continuity of tortuous vascular channels connecting a branch of the right portal vein to a branch of the right hepatic vein. The dilated vascular channels and tributaries of the right hepatic vein showed a monophasic waveform pattern on spectral analysis. Portovenography showed a tangle of vascular structures connecting with a branch of the right hepatic vein.     

Pancreatic arteriovenous malformation: a rare manifestation of hereditary hemorrhagic telangiectasia

We present Doppler ultrasound, computed tomography and angiography findings of a rare pancreatic arteriovenous malformation associated with hereditary hemorrhagic telangiectasia.     

Overview of Pulmonary Arteriovenous Malformations and Hereditary Hemorrhagic Telangiectasia

Pulmonary arteriovenous malformations (PAVMs) are rare and commonly caused by an autosomal dominant disorder known as hereditary hemorrhagic telangiectasia (HHT). HHT is an often-missed vascular disorder causing symptoms of epistaxis, mucosal telangiectasia, AVMs, hemoptysis, dyspnea, and iron deficiency anemia. Large AVMs in the lungs, liver, and brain can be life-threatening. Early diagnosis and intervention are imperative to prevent serious complications of massive hemoptysis, stroke, cerebral abscess, and gastrointestinal bleeding. This case study of an incidental finding of a PAVM on routine chest-ray proves to be a life-saving event for a young African American woman with undiagnosed HHT.     

彩色多普勒超声诊断累及肝脏的遗传性、出血性毛细血管扩张症

目的探讨遗传性、出血性毛细血管扩张症患者累及肝脏时的彩色多普勒超声表现.方法用二维及彩色多普勒超声观察6例经临床明确诊断的遗传性、出血性毛细血管扩张症患者的肝脏及肝内外血管的走行及分布.结果 6例患者均表现为肝固有动脉纡曲扩张伴血流速度增快,5例同时伴有肝内动脉纡曲扩张;2例发现肝内动脉-静脉瘘,3例发现肝内动脉-门脉瘘;2例合并有肝硬化,其中1例同时合并有血管瘤.结论肝内外动脉纡曲扩张伴血流速度增快为累及肝脏的遗传性、出血性毛细血管扩张症的主要超声特点,彩色多普勒超声在此病的筛查、诊断及追踪观察等方面具有重要作用.     

Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia

Essentials

• Antiangiogenic drugs are indicated as therapies for hereditary hemorrhagic telangiectasia.
• We interrogated the response to four antiangiogenic drugs for anemia and intestinal bleeding.
• Sorafenib and a pazopanib analog significantly improved while erlotinib worsened anemia.
• Some oral antiangiogenic drugs were effective in reducing intestinal bleeding.

Summary

Background

Epistaxis and gastrointestinal (GI) tract hemorrhages are common symptoms of aged hereditary hemorrhagic telangiectasia (HHT) patients that result in anemia. Clinical as well as animal studies have suggested that vascular endothelial growth factor (VEGF) neutralizing antibodies lessen hemorrhage associated with adult‐onset arteriovenous malformations (AVMs).

Objectives

The goal of this study is to evaluate potential therapeutic effects of oral delivery of four antiangiogenic tyrosine‐kinase inhibitors (TKIs) in the development of adult‐onset AVMs in a murine model of HHT.

Methods

An adult activin receptor‐like kinase 1 (Alk1)‐inducible knockout (iKO) model was utilized to evaluate the effect of oral administration of sorafenib, sunitinib, erlotinib and a pazopanib analog (GW771806) on hemoglobin level, GI hemorrhages and formation of wound‐induced skin AVMs.

Results and Conclusions

Sorafenib and GW771806 significantly improved, yet erlotinib worsened, anemia and GI‐bleeding in the Alk1‐iKO model. However, none of these TKIs appeared to be effective for inhibiting the development of wound‐induced skin AVMs. Taken together, these results suggest that oral delivery of antiangiogenic TKIs is selectively more effective for GI bleeding than mucocutaneous AVMs, and it may provide an experimental basis for selective therapeutic options depending on the symptoms of HHT.     

多个短串联重复序列位点在遗传性出血性毛细血管扩张症基因诊断中的应用

目的建立一种遗传性出血性毛细血管扩张症（HHT）间接连锁分析方法进行基因定位，为进一步查找基因突变位点提供信息。方法采用荧光标记PCR扩增技术、复合PCR技术和基因扫描的方法，对100名无关汉族个体的6个短串联重复序列（short tandem repeat，STR）进行多态性分析，对两个HIIT家系38名成员6个STR位点进行多态性连锁分析和单倍型分析。结果6个STR位点基因型分布均符合Hardy—Weinberg平衡（P〉0．05），杂合度（H）大于0．723，多态信息含量（PIC）大于0．704。两个家系连锁分析结果表明，HHT与12号染色体的ALK-1基因紧密连锁。结论选择的6个STR位点具有较好的多态性，结合基因扫描技术能够应用于HHT的间接连锁分析，该方法快速、准确、客观。     

Putting a new spin: MRI monitoring of hepatic artery and portal vein flow for response to bevacizumab in hereditary hemorrhagic telangiectasia

Our case report demonstrates the use of phase contrast magnetic resonance imaging (MRI) in monitoring the functional status of liver vasculature in a patient with hereditary hemorrhagic telangiectasia (HHT) who was treated with bevacizumab. Our report provides additional information that can be further utilized in clinical settings and research.