遗传性出血性毛细血管扩张症一例

患者,男,29岁,农民.因“发现乙肝病毒标志物阳性7～8年,乏力、食欲下降2个月”,于2013年8月19日以“乙型慢性病毒性肝炎”收入院.患者在入院前曾在当地诊所给予护肝及口服中药治疗1个月,症状无明显好转.既往自幼有“鼻出血”病史,曾在外院诊断为“鼻中隔偏曲”给予手术治疗,几乎每天鼻出血症状无明显改善,每逢下雨和夏天鼻出血症状明显,入院前1个月症状加重.2012年10月因“贫血”在外院行骨髓穿刺检查,并有因“缺铁性贫血”输血史,具体不详.体格检查：体温36℃,呼吸18次/分,脉搏64次/分,血压120/60 mmHg.     

遗传性出血性毛细血管扩张症伴重度贫血1例

<正>遗传性出血性毛细血管扩张症(HHT)是一种血管壁结构发育异常的常染色体显性遗传性疾病。该病以皮肤、黏膜等多部位毛细血管扩张性病变及出血为主要临床表现。我科曾收治1例重度贫血伴鼻衄的HHT患者,现报道如下。1临床资料患者,女,60岁,因间断性鼻衄7年余,加重1 w入院。患者7年前无明显诱因出现间断性鼻衄,量约50 ml,易止,出血间隔时间约7 d。3年前鼻出血症状加重,出血间隔时间缩短为     

遗传性出血性毛细血管扩张症伴上消化道出血1例

<正>患者女,57岁,因反复呕血10d入院。入院前10d无明显诱因出现呕暗红色胃内容物1次,量约500ml,伴头晕、心悸不适,无排黑便、血便,无腹痛、发热等,就诊外院,给予制酸、止血等处理后,症状改善。1d前无明显诱因再次出现呕鲜血3次,伴乏力、头晕、一过性晕厥,急诊我院。测血压为80/52mmHg(1 mmHg=0.133kPa),查血常规:WBC5.6×109/L,HGB 81g/L,PLT 230×109/L,血凝     

肝脏遗传性出血性毛细血管扩张症1例报告

<正>1病例资料患者女性,50岁,因“体检行腹部超声发现肝脏血流异常”就诊本院。彩色多普勒血流显像:扩张的肝动脉及其分支内可见红蓝相间闪烁的明亮血流信号,且血流束较粗,大于正常同级的肝动脉内径(图1)。询问病史:患者无腹痛、腹胀,无眼黄、尿黄,无呕血、黑便,无纳差、乏力,无发热,无消瘦。体检:嘴唇、舌面、双手指掌面可见散在多处毛细血管扩张,直径2～4 mm,余未见异常。查血常规及肝肾功能均正常。进一步完善全腹增强CT+CTA示:肝右叶两枚囊肿,脾肿大;CTA示腹腔干及其分支增粗、扭曲,考虑遗传性出血性毛细血管扩张累及肝脏(图2、3)。追问病史:患者近数十年间无明显诱因反复鼻出血,量不多,可自行停止,一直未予诊治,患者两位同胞兄弟也有类似鼻出血病史。根据患者有长期反复鼻出血,嘴唇、舌面、双手指掌面可见散在多处毛细血管扩张及肝脏、腹部动脉多处受累,该患者诊断遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)。鉴于患者临床仅表现为自发性少量鼻出血而无其他系统症状,无血红蛋白下降及肝功能异常,嘱其观察随访,定期复查腹部超...     

遗传性出血性毛细血管扩张症并发肺动静脉瘘一例

1病例介绍 患者，男，50岁，因“反复胸闷19年，加重伴气促、发热4d”入院。既往反复有血便、鼻衄、贫血病史30余年，2007年因重度贫血住院治疗，行骨髓检查未见明显异常，当时诊断不详，予以输血、补铁等对症治疗好转后出院；曾因脾周脓肿行切开引流术。2012-06在我院行冠状动脉＋肺动脉＋腹腔干＋肠系膜上动脉＋双肾动脉造影术，除肺动脉造影提示左下肺动脉远端可见多个大小不一血管瘤扩张，形成动静脉瘘，其他无特殊，并行肺动静脉瘘栓塞术治疗；2012-11因三度房室传导阻滞行永久性心脏起搏器植入术。既往有输血史，否认家族中有类似病史。入院查体：T 37.9℃，P 56 bpm，R 23 bpm，BP 111／47 mmHg ，神清，巩膜无黄染，重度贫血貌，口唇轻度紫绀，鼻及口腔黏膜可见毛细血管扩张，面部，上肢见散在多发红色点状毛细血管扩张，浅表淋巴结未触及，颈静脉明显怒张，两肺呼吸音粗，双侧肺可闻及啰音，心界向左下扩大，心率53 bpm ，律齐，未闻及明显杂音。腹部膨隆，左上腹可见长约25 cm陈旧性瘢痕，全腹无压痛、反跳痛，肝脾触诊不满意，肝肾脾三区无明显叩击痛，肠鸣音正常，双下肢可见褐色色素沉着，右下肢中度凹陷性水肿，左下肢重度凹陷性水肿。入院诊断“遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangiectasia ，HHT）”。辅助检查：血常规示白细胞14.4＆#215;109／L，单核细胞0.84＆#215;109／L，血红蛋白30 g／L；大便常规：红细胞＋＋＋，潜血阳性；肾功能：肌酐356μmol／L；电解质：钾6.64 mmol／L；凝血功能异常；肝功能提示转氨酶升高、低蛋白血症。入院予以吸氧、抗感染、利尿、平喘、输血及血浆、钙剂＋胰岛素、人血白蛋白等对症处理后，复查体温、白细胞、肌酐、电解质恢复正常，血红蛋白回升至40～63 g／L，凝血功能和肝功能逐渐较前改善，双下肢水肿消退。     

遗传性出血性毛细血管扩张症致消化道出血一例

遗传性出血性毛细血管扩张症致消化道出血的情况较为罕见。本文报道1例相关病例的诊断及治疗过程,并结合国内外文献,探讨其临床特点和诊疗方法。     

遗传性出血性毛细血管扩张症研究现状

遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangieetasia,HHT）是一种常染色体显性遗传的以多系统血管发育异常,临床表现以反复鼻出血为特征,伴有皮肤及内脏血管扩张的出血性疾病。国外有关的流行病学调查显示,欧洲国家HHT的发病率相对比较高,人群中HHT的平均发病率约为1／2000;北美洲国家HHT的发病率比较低,人群中HHT的发病率约为1／10000;而在黑种人和阿拉伯人中HHT罕见。在亚洲国家中,HHT的发病率也比较低,日本北部的秋田县HHT的发病率约为1／5000～1／8000。目前国内尚缺乏临床流行病学的资料统计,只有散发的病例报道。     

遗传性出血性毛细血管扩张症诱发肝性脑病1例

报道1例表现为肝性脑病的遗传性出血性毛细血管扩张症,国内鲜有报道,在诊断和治疗上具有参考意义。     

以消化道出血为主要表现的遗传性出血性毛细血管扩张症一例

患者女,43岁.因间歇性黑便1月余,加重伴呕血1小时入院.患者于1月前无明显诱因出现解黑便,每日1次,每次约100 g,伴头晕、乏力、心慌,在外院拟诊为"消化道出血".入院前1小时感症状加重,伴呕血1次,为咖啡样血块,量约150ml.入院查体:贫血貌,上唇、左上肢,左下肢、右臀部可见大小不一的紫蓝色静脉球,表面光滑,压之褪色,质软,无压痛.既往体健,无其它部位出血史,患者妹妹及两个堂姐姐有类似皮肤黏膜改变.入院拟诊:①蓝色橡皮疱痣综合征;②遗传性出血性毛细血管扩张症.     

Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) may be associated with pulmonary hypertension (PH). In the context that little attention has been given to long-term follow-up of such individuals, we report a patient with PH associated with HHT with special attention to clinical features and long-term response to therapy. To our knowledge, this case represents only the second with a 10-year follow-up reported and demonstrates that aggressive therapy can lead to long-term improvement in clinical parameters and survival.     

High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

ObjectiveHereditary hemorrhagic telangiectasia (HHT) is a vascular disorder causing mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). Pulmonary hypertension (PH) is considered an uncommon complication of HHT whose impact on the survival of these patients is currently unknown.MethodsFrom January 1995 to December 2008, 29 hospitalized patients with definite HHT were included and followed until January 2011. Data on demographics, clinical symptoms and survival were recorded. PH was classified according to echocardiographic probability.ResultsA CT angiogram was performed in 24 of the 29 patients with HHT and AVMs were detected in 16 of them (67%): hepatic in 58%, pulmonary in 33% and spinal in 3%; 37% had both pulmonary and hepatic AVMs. Transthoracic Doppler echocardiography (TTE) was performed in 21 patients. PH was considered possible in 4 (14%) and probable in 9 (31%). The mean age at diagnosis was lower in patients with PH than in patients without PH (54 ± 16.5 years vs 73 ± 8.8 years, p = 0.002). PH was more prevalent in patients with AVMs (56 vs. 23%, p = 0.036). The mean follow-up of the entire cohort was 6 ± 4.4 years (range: 2 months–17 years), during this time 18 patients died (62%; mean age 73 ± 8.1 years). Patients with PH died at a younger age (68 ± 8.4 vs. 79 ± 2.7 years, p = 0.015) than those without PH.ConclusionsPH is a severe condition that significantly reduces survival on HHT patients. PH should be suspected in all HHT patients with dyspnea and hepatic AVMs.     

Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a hereditary vascular disease with multiple arterial venous malformations. Pulmonary arterial hypertension is occasionally associated with HHT; however, there is no evidence of targeted therapy for this subgroup of patients. This report describes a 37-year-old woman who presented with dyspnea on exertion. She was finally diagnosed with pulmonary arterial hypertension associated with HHT (HHT2, MIM 600376), and had multiple arterial venous malformations in the lung, liver and pancreas. An oral dual endothelin receptor (ET_A/ET_B) antagonist, bosentan, was prescribed, and her symptoms, exercise capacity and laboratory findings imporved greatly after treatment. Pulmonary arterial pressure also decreased. Endothelin receptor antagonist is a possible treatment option for pulmonary arterial hypertension associated with HHT.     

Coronary artery ectasia associated with hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is characterized by a variety of cutaneous, mucosal, and visceral vascular anomalies. A patient with classic hereditary hemorrhagic telangiectasia was shown to have three-vessel coronary artery ectasia without evident atherosclerosis, and association not previously demonstrated. The possibility that coronary artery ectasia may be a manifestation of hereditary hemorrhagic telangiectasia is discussed.     

心电图对肺动脉高压的诊断价值探讨

目的 参照右心导管检查结果,评价常规12导联心电图在肺动脉高压诊断中的应用价值.方法 入选超声心动图估测肺动脉收缩压≥36 mm Hg(1 mm Hg=0.133 kPa)的64例疑诊肺动脉高压患者为研究对象,右心导管检查前30 min行12导联心电图检查.根据右心导管检查结果排除肺动脉高压者26例,确诊肺动脉高压者38例(特发性肺动脉高压23例,结缔组织病相关性肺动脉高压15例).比较两组间心电图参数差异.通过ROC曲线计算心电图各指标诊断肺动脉高压的敏感性、特异性、阳性预测值及阴性预测值.采用Spearman相关性计算肺动脉高压组心电图参数与血液动力学指标相关性.结果 心电图诊断右心室肥大的各指标在肺动脉高压组中的发生率显著高于排除肺动脉高压组.Ⅰ导联S波振幅＞0.21 mV、QRS电轴＞87°、R_(v1) + S_(v5)＞0.76 mV诊断肺动脉高压的敏感性分别为89%、86%、84%,特异性分别为81%、92%、83%.采用Spearman相关性分析显示,QRS电轴与肺动脉平均压的相关性最高(r=0.75,P＜0.001);R_(v1) + S_(v5)与肺血管阻力的相关性最高(r=0.74,P＜0.001);R_(v1) + S_(v5)和I导联S波振幅与心指数相关性较高(r=-0.62,P＜0.001).结论 常规12导联心电图检查在肺动脉高压筛查中有重要价值,Ⅰ导联S波振幅＞0.21 mV、QRS电轴＞87°、R_(v1) + S_(v5)＞0.76 mV等右心室肥大征象时应考虑到肺动脉高压可能.QRS电轴、R_(v1) + S_(v5)以及Ⅰ导联S波振幅对评估肺动脉高压患者血液动力学受损的严重程度有临床意义.