For over 25 years, we have been actively treating patients and families with HHT.
约翰霍普金斯HHT卓越中心是北美开创性的治疗中心之一，有助于为治疗HHT患者提供必要的全面协调护理. 我们的卓越中心致力于提供一流的推荐十大正规网赌平台和家庭护理以及最先进的研究. 我们的目标是改善我们的推荐十大正规网赌平台和家属的健康，以及改善世界上那些我们可能永远不会遇到的推荐十大正规网赌平台的生活.
我们通过教育和社区意识增强患者、家属和提供者的能力
We hold clinical and research expertise in a broad range of conditions related to HHT
Our center includes over 30 full-time faculty members specializing in HHT
我们的多学科团队与患者合作，根据个人需求提供全面的护理
Request an Appointment
New and Current Patients
Sophia Kemble, MSN, RN
HHT Nurse Coordinator
Phone: 410-614-3934
Email: [email protected]
What is HHT?
遗传性出血性毛细血管扩张症(HHT)是一种遗传性血管疾病，约占1 / 5,000 people. HHT is characterized by nosebleeds, telangiectasias, 动静脉畸形(avm)，影响所有性别、种族和民族背景的人. 这种疾病有时也被称为奥斯勒-韦伯-伦杜(OWR)综合征，以100多年前首次描述HHT的医生命名.
Today, HHT remains a disease that is often misdiagnosed or misunderstood. Despite tremendous progress to raise the worldwide awareness of HHT, 许多患者和临床医生并不完全了解这种疾病的所有表现.
自1991年成立以来，Cure HHT基金会一直是国家和全球努力的中心. 它是由顽强而充满激情的医生和患者家属创立的，旨在为患者及其家属争取权益, raising awareness of HHT, guiding and funding critical research, creating lasting collaborations, and encouraging scientists to work on new treatments.
Our Team
Clifford Weiss, M.D.
Director of the HHT Center of Excellence
Nicholas Rowan, M.D.
Associate Director of the HHT Center of Excellence
Panagis Galiatsatos, M.D., M.H.S.
Associate Director of the HHT Center of Excellence
Sophia Kemble, MSN, RN
HHT Program Coordinator
[email protected]
Bill Morefield, PA
About our Practice
约翰霍普金斯大学HHT卓越中心诊所遍布约翰霍普金斯大学医学院校园. Our doctors 是约翰霍普金斯大学医学院的全职教师，在成人和儿童HHT的临床护理方面具有特殊的专业知识.
Refer a Patient
医生和新的或返回的推荐十大正规网赌平台可以直接打电话给HHT护士协调员索菲亚·肯布尔 410-614-3934 or at [email protected].
Emergencies
要与我们的HHT专家谈论患者，请致电霍普金斯访问线(HAL) 410-955-5000 and page the on-call Interventional Radiology Fellow. The HAL is for physician-to-physician consult only.
- 遗传性出血性毛细血管扩张症(也称为Olser-Weber-Rendu)是一种多系统血管发育不良. It is uncommon but not rare.
- Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions.
- 病变的位置和症状的严重程度是高度可变的，在受影响的个体中，诊断明显不足.
- Most commonly affected organs from most to least common are, are the nose, lungs, GI tract, brain, liver, and spine, respectively.
- HHT is an autosomal dominant genetic disorder. Denovo mutations are rare. A targeted family history shows almost all cases to be familial.
- HHT is heterogenic. Defects in at least three genes cause HHT.
- 鼻出血或真皮毛细血管扩张的严重程度与脑或肺avm的可能性无关.
Current Clinical Trials
Highlighted News and Publications
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Farhan A, Latif MA, Minhas A, Weiss CR. Cardiac and Hemodynamic Manifestations of Hereditary Hemorrhagic Telangiectasia. Int J Angiol. 2022 Jul 9;31(2):75-82. doi: 10.1055/s-0042-1745842. PMID: 35923582; PMCID: PMC9341259.
Fanning RP, Strout S, Rowan NR, Weiss CR, Galiatsatos P. 遗传性出血性毛细血管扩张静脉注射贝伐单抗对COVID-19的影响1例报告. J Med Cases. 2022 Jun;13(6):307-311. doi: 10.14740/jmc3948. Epub 2022 Jun 2. PMID: 35837077; PMCID: PMC9239510.
Galiatsatos P, Wilson C, O'Brien J, Gong AJ, Angiolillo D, Johnson J, Myers C, Strout S, Mathai S, Robinson G, Rowan NR, Weiss CR. 遗传性出血性毛细血管扩张的治疗缺乏种族和民族数据:静脉注射贝伐单抗疗效的系统回顾. Orphanet J Rare Dis. 2022 Jun 13;17(1):220. doi: 10.1186/s13023-022-02371-0. PMID: 35698080; PMCID: PMC9195340.
Lam S, Guthrie KS, Latif MA, Weiss CR. Genetic counseling and testing for hereditary hemorrhagic telangiectasia. Clin Genet. 2022 Mar;101(3):275-284. doi: 10.1111/cge.14050. Epub 2021 Aug 24. PMID: 34415050.
Farhan A, Yuan F, Partan E, Weiss CR. 遗传性出血性毛细血管扩张5型GDF2突变患者的临床表现. Am J Med Genet A. 2022 Jan;188(1):199-209. doi: 10.1002/ajmg.a.62522. Epub 2021 Oct 5. PMID: 34611981.
Ring NY, Latif MA, Hafezi-Nejad N, Holly BP, Weiss CR. 遗传性出血性毛细血管扩张患者动脉瘤的患病率及相关因素:17年418例回顾性研究. J Vasc Interv Radiol. 2021 Dec;32(12):1661-1669. doi: 10.1016/j.jvir.2021.08.018. Epub 2021 Aug 31. PMID: 34478850.
Kolarich AR, Solomon AJ, Bailey C, Latif MA, Rowan NR, Galiatsatos P, Weiss CR. 遗传性出血性毛细血管扩张症的影像学表现及介入治疗. Radiographics. 2021 Nov-Dec;41(7):2157-2175. doi: 10.1148/rg.2021210100. PMID: 34723698.
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN. An international, 静脉注射贝伐单抗治疗遗传性出血性毛细血管扩张出血的多中心研究:抑制剂-出血研究. Haematologica. 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221; PMCID: PMC8327711.
Latif MA, Sobreira NLD, Guthrie KS, Motaghi M, Robinson GM, Shafaat O, Gong AJ, Weiss CR. 遗传性出血性毛细血管扩张患者的临床和分子特征:来自HHT卓越中心的经验. Am J Med Genet A. 2021 Jul;185(7):1981-1990. doi: 10.1002/ajmg.a.62193. Epub 2021 Mar 26. PMID: 33768677.
Bailey CR, Rowan NR, Chaturvedi S, Weiss CR. 遗传性出血性毛细血管扩张合并遗传性血色素沉着症1例报告. Am J Med. 2021 Mar;134(3):e205-e206. doi: 10.1016/j.amjmed.2020.08.038. Epub 2020 Oct 13. PMID: 33058785.
England RW, Weiss CR. 儿童鼻出血和低氧血症的肺动静脉畸形. Radiol Case Rep. 2020 Aug 3;15(10):1759-1763. doi: 10.1016/j.radcr.2020.07.026. PMID: 32774576; PMCID: PMC7403889.
Bailey CR, Arun A, Towsley M, Choi WK, Betz JF, MacKenzie S, Areda MA, Duvvuri M, Mitchell S, Weiss CR. MVP™微血管塞系统用于治疗肺动静脉畸形. Cardiovasc Intervent Radiol. 2019 Mar;42(3):389-395. doi: 10.1007/s00270-018-2106-x. Epub 2018 Nov 14. PMID: 30430217.
Bishop JC, Britton JF, Murphy AM, Sule S, Mitchell S, Takemoto C, Collaco JM, Karnsakul W, Cuffari C, Dietz E, Bodurtha J. 与JP-HHT综合征相关的青少年特发性关节炎:一种新的表型与一种新的变异 SMAD4. J Pediatr Genet. 2018 Jun;7(2):78-82. doi: 10.1055/s-0037-1609060. Epub 2017 Dec 29. PMID: 29707409; PMCID: PMC5916806.
Halderman AA, Ryan MW, Clark C, Sindwani R, Reh DD, Poetker DM, Invernizzi R, Marple BF. 遗传性出血性毛细血管扩张出血的医学治疗:循证回顾. Int Forum Allergy Rhinol. 2018 Jun;8(6):713-728. doi: 10.1002/alr.22094. Epub 2018 Feb 2. PMID: 29393992.
Mu W, Cordner ZA, Yuqi Wang K, Reed K, Robinson G, Mitchell S, Lin D. 遗传性出血性毛细血管扩张中ACVRL1与ENG突变携带者肺动静脉畸形的特征. Genet Med. 2018 Jun;20(6):639-644. doi: 10.1038/gim.2017.160. Epub 2017 Oct 19. PMID: 29048420.
Bailey CR, Duvvuri M, Weiss CR. Pulmonary Arteries: Exclusion (Pulmonary AVM). Diagnostic Imaging Interventional Procedures. 2nd Ed. Elsevier. 2018.
Bailey CR, Weiss CR. Pulmonary Arteries: Revascularization (PE Thrombolysis). Diagnostic Imaging Interventional Procedures. 2nd Ed. Elsevier. 2018.
Baxter M, Erby L, Roter D, Bernhardt BA, Terry P, Guttmacher A. 北美成人遗传性出血性毛细血管扩张的健康筛查行为. Genet Med. 2017 Jun;19(6):659-666. doi: 10.1038/gim.2016.161. Epub 2016 Oct 13. PMID: 27735923; PMCID: PMC5391304.
Jeon H, Cohen B. 局部噻莫洛尔对遗传性出血性毛细血管扩张患者皮肤毛细血管扩张缺乏疗效:一项初步研究的结果. J Am Acad Dermatol. 2017 May;76(5):997-999. doi: 10.1016/j.jaad.2016.11.055. PMID: 28411778.
Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR. 局部鼻内治疗对遗传性出血性毛细血管扩张患者鼻出血频率的影响:一项随机临床试验. JAMA. 2016 Sep 6;316(9):943-51. doi: 10.1001/jama.2016.11724. PMID: 27599329.
Yin LX, Reh DD, Hoag JB, Mitchell SE, Mathai SC, Robinson GM, Merlo CA. 遗传性出血性毛细血管扩张出血严重程度评分的微小重要差异. Laryngoscope. 2016 May;126(5):1029-32. doi: 10.1002/lary.25669. Epub 2015 Sep 22. PMID: 26393959.
Kim H, Nelson J, Krings T, terBrugge KG, McCulloch CE, Lawton MT, Young WL, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group. 遗传性出血性毛细血管扩张患者脑动静脉畸形出血率. Stroke. 2015 May;46(5):1362-4. doi: 10.1161/STROKEAHA.114.007367. Epub 2015 Apr 9. PMID: 25858236; PMCID: PMC4415515.
Merlo CA, Yin LX, Hoag JB, Mitchell SE, Reh DD. 鼻衄对遗传性出血性毛细血管扩张患者健康相关生活质量的影响. Int Forum Allergy Rhinol. 2014 Nov;4(11):921-5. doi: 10.1002/alr.21374. Epub 2014 Aug 21. PMID: 25145809.
Reh DD, Yin LX, Laaeq K, Merlo CA. A new endoscopic staging system for hereditary hemorrhagic telangiectasia. Int Forum Allergy Rhinol. 2014 Aug;4(8):635-9. doi: 10.1002/alr.21339. Epub 2014 Apr 29. PMID: 24782401.
Reh DD, Hur K, Merlo CA. 局部芝麻/玫瑰天竺葵油复方治疗遗传性出血性毛细血管扩张相关鼻出血的疗效. Laryngoscope. 2013 Apr;123(4):820-2. doi: 10.1002/lary.23736. Epub 2013 Feb 9. PMID: 23401038.
Hoag JB, Terry P, Mitchell S, Reh D, Merlo CA. An epistaxis severity score for hereditary hemorrhagic telangiectasia. Laryngoscope. 2010 Apr;120(4):838-43. doi: 10.1002/lary.20818. Erratum in: Laryngoscope. 2021 Dec;131(12):2834. PMID: 20087969.
Terry PB, White RI Jr, Barth KH, Kaufman SL, Mitchell SE. Pulmonary arteriovenous malformations. Physiologic observations and results of therapeutic balloon embolization. N Engl J Med. 1983 May 19;308(20):1197-200. doi: 10.1056/NEJM198305193082005. PMID: 6405268.
White RI Jr, Mitchell SE, Barth KH, Kaufman SL, Kadir S, Chang R, Terry PB. 肺动脉动静脉畸形的血管构筑:栓塞治疗前的重要考虑. AJR Am J Roentgenol. 1983 Apr;140(4):681-6. doi: 10.2214/ajr.140.4.681. PMID: 6601370.
Terry PB, Barth KH, Kaufman SL, White RI Jr. Balloon embolization for treatment of pulmonary arteriovenous fistulas. N Engl J Med. 1980 May 22;302(21):1189-90. doi: 10.1056/NEJM198005223022107. PMID: 7366659.
Steiner WR. Hereditary Hæmorrhagic Telangiectasia, with Report of Three Families and a Review of those previously recorded. Trans Am Climatol Clin Assoc. 1916;32:77-94. PMID: 21408690; PMCID: PMC2307667.
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Gong AJ, Bosworth E, Garg T, Gowda P, Khalil A, Weiss CR. 肺动静脉畸形栓塞剂的比较:技术结果, Time Saved, and Costs. Global Embolization Oncology Symposium Technologies 2022.
Gong AJ, Khalil A, Garg T, Gowda T, Weiss CR, 遗传性出血性毛细血管扩张人群的生活质量是如何被捕获的?: A Scoping Review of Quality-of-Life Instruments. Accepted for SIR 2022.
Gong AH, Khalil A, Gowda P, Garg T, Weiss CR. 遗传性出血性毛细血管扩张人群的生活质量是如何被捕获的?: A Scoping Review of Quality-of-Life Instruments. ISSVA World Congress, 2022.
Latif, MA; Bailey CR, Abou A, Motaghi, M, Weiss, CR. 小儿肺动静脉畸形治疗中不同类型栓塞剂与持久性的关系. ARRS 2022.
Farhan A, Latif M, Minhas A, Weiss CR. 遗传性出血性毛细血管扩张伴或不伴AVM患者心肺参数的整体比较分析. SIR 2021.
Latif MA, Bailey C, Motaghi M, Abou-Areda M., Weiss CR. 经治疗的肺动静脉畸形持续存在的相关因素:回顾性分析, Single-center, Observational Study. RSNA 2021.
Latif MA, Fu Y, Shafaat O, Yuan F, Uppal P, Gowda P, Weiss CR. 胸部CTA血管造影对肺动静脉畸形的诊断准确性. A Comparison with Invasive Catheter Pulmonary Angiogram. SIR 2021.
Latif MA, Motaghi M, Abou Areda M, Bailey CR, Mitchell SE, Weiss CR. 治疗后肺动静脉畸形再灌注的预测因素:一项回顾性单中心研究. SIR 2021.
Latif MA, Shafaat O, Weiss CR. 肺动静脉畸形并发症及栓塞失败分析. SIR 2021.
Minhas AS, Latif MA, Farhan A, Hays AG, Weiss CR. 遗传性出血性毛细血管扩张患者的高心输出量和异常血流动力学超声心动图的患病率. ACC 2021.
Muhammad AL, Fu Y, Weiss CR. Racial and Ethnic Disparities in hereditary hemorrhagic Telangiectasia. Experience from a single center of HHT excellence. ARRS 2021.
Muhammad AL, Fu Y, Yuan F, Shafaat O, Gowda P, Weiss CR. Disease severity and family history in Hereditary Hemorrhagic Telangiectasia. A Retrospective Single-Center Experience” ARRS 2021.
Yuan F., Farhan A., Partan E., Fu Y., Latif M.A., Shafaat O., Weiss CR. 遗传性出血性毛细血管扩张GDF2突变患者的临床和遗传学表现. CIRSE 2021.
袁飞，马拉提夫，龚A, Ahmed F, Gowda P, Shafaat O, Bailey CR, Mitchell SE, Weiss CR. 遗传性出血性毛细血管扩张及相关血管异常的新突变患者的临床表现. SIR 2021.
Yuan F, Muhammad AL, Gowda P, Shafaat O, Weiss CR:遗传性出血性毛细血管扩张由GDF2突变和相关血管异常引起的临床表现. 121st ARRS 2021.
Bailey C, Hafezi Nejad N, Weiss CR. 遗传性出血性毛细血管扩张中肺动脉动静脉畸形(PAVMs)的肺动脉动脉造影:全国趋势, Patient Characteristics and Outcomes. SIR 2020.
Latif M, Madrazo J, Hemmingson T, Weiss CR. 经胸超声心动图对遗传性出血性毛细血管扩张肺动静脉畸形的诊断准确性:生理盐水对比显影剂与超声心动图的比较. CT Angiogram Chest. SIR 2020.
Latif M, Sobreira N, Hemmingson T, Weiss CR. Pathogenic Variants in the ENG, ACVRL1, SMAD4, GDF2基因与遗传性出血性毛细血管扩张的临床表现:来自HHT卓越单一中心的经验. SIR 2020.
Ring N, Latif M, Hafezi Nejad N, Holly B, Weiss CR. 遗传性出血性毛细血管扩张(HHT)与脑和脑外动脉动脉瘤的关联:来自HHT卓越单一中心的经验. SIR 2020.
Solomon AJ, Latif MA, Kolarich AR, Gong AJ, Bailey C, Weiss CR. 遗传性出血性毛细血管扩张症的影像学表现及介入治疗. RSNA 2020.
Arun A, Bailey C, Areda MA, Choi W, Hong K, Towsley M, Mitchell S, Weiss C. 微血管栓系统(MVP)用于肺动静脉畸形栓塞的大量机构经验,” SIR 2019.
Arun A, Bailey C, Towsley M, Choi WK, Betz JF, MacKenzie S, Areda MA, Duvvuri M, Mitchell S, Weiss CR. 肺动脉动静脉畸形栓塞与微血管塞系统(MVP) -一个单一的机构经验. CIRSE 2019.
Bailey C, Arun A, Towsley M, Choi WK, Betz JF, MacKenzie S, Areda MA, Duvvuri M, Mitchell S, Weiss CR. 初步证据选择栓塞装置治疗肺动静脉畸形-更新. CIRSE 2019.
Ma G, Robinson G, Weiss CR, Lin D. Systemic Avastin in Hereditary Hemorrhagic Telangiectasia (HHT): A Case Series. Cure HHT Scientific Conference 2019.
Bailey CR, Towsley M, Choi WK, Betz J, MacKenzie S, Duvvuri M, Mitchell SE, Weiss CR. 栓塞装置治疗肺动静脉畸形的比较.” SIR 2018.
Bailey CR, Zolet M, Hoyer M, Choi P, Haq FU, Merlo CA, Collaco JM, Reh D, Robinson G, Terry P, Mitchell SE, Weiss CR. 来自遗传性出血性毛细血管扩张卓越中心的实践和机构效益:更新.” SIR 2018.
Zolet M, Bailey CR, Weiss CR. 遗传性出血性毛细血管扩张患者肺动静脉畸形的筛查. SIR 2018.
贝利C, ulhaq F, Merlo C, Collaco J, Reh D, Robinson G, Terry P, Mitchell SE, Weiss CR. 约翰霍普金斯医院遗传性出血性毛细血管扩张卓越中心:组织, screening, and treatment results in pediatric and adult patients from 2009 to 2013. SIR 2017.
Bailey CR, Zolet M, Hoyer M, Choi P, Mitchell SE, Weiss CR. 建立遗传性出血性毛细血管扩张卓越中心:如何指导. RSNA 2017 Cum Laude.
MacKenzie S, Mitchell SE, Towsley M, Weiss CR. 微血管栓栓塞治疗肺动静脉畸形的初步体会. SIR 2016.
MacKenzie S, Towsley M, Mitchell S, Weiss CR. 微血管栓栓塞治疗肺动静脉畸形的初步体会. ISSVA 2016.
Towsley M, MacKenzie S, Mitchell SE, Weiss CR. 肺动脉动静脉畸形的栓塞治疗:微血管栓的比较, Amplatzer Vascular Plug and Coils. SIR 2016.
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JHMI/Regional
2021年:Weiss CR，演讲者，“抗凝患者和鼻急诊中的鼻出血”. Johns Hopkins Health System Anticoagulation Clinics Grand Rounds,” Baltimore, MD.
National
2021: Weiss CR, Speaker, GEST Online, Arteriovenous Malformations, “肺动静脉畸形:不同栓塞剂及其对临床结果的潜在影响”(虚拟).
2021: Weiss CR, Speaker, GEST 2021, Challenging Cases: Coils and Plugs, “Complex pulmonary AVM” (virtual).
2018: Weiss, CR Presenter, CIO, “Embolic selection and techniques in the management of endoleaks, pulmonary AVMs and aneurysms: A case-based presentation,” Hollywood FL.
International
2022: Farhan A, Yuan F, Partan E, Weiss CR, GDF2突变与遗传性出血性毛细血管扩张相关患者的临床表现,” accepted for an oral presentation at the 14th HHT Conference.
2022: Weiss CR, Speaker/Panelist LINC 2022, Innovations and new applications of embolization therapies, “Pulmonary AVMs: Deep dive into new data and guideline updates,” Leipzig, Germany (virtual).
2021: Weiss CR, Speaker, LINC 2019, “Pulmonary AVMs: Cifferent embolic agents and potential impact on clinical outcomes,” Leipzig, Germany (virtual).
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4/8/2010 – 9/2024
Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia.
ClinicalTrials.gov Identifier: NCT01158807
NIH Rare Disease Clinical Research Consortium
Sponsor: Unity Health Toronto
PI: Fuaghnan (Unity Health Toronto). Site PI: Lin (Johns Hopkins University School of Medicine)10/17/19 - 9/1/23
Pomalidomide for the treatment of bleeding in HHT.
ClinicalTrials.gov Identifier: NCT03910244
The Cleveland Clinic
PI: McCrae (Cleveland Clinic). Site PI: Weiss -
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约翰霍普金斯大学的研究人员呼吁缩小在罕见遗传疾病研究中收集种族和民族数据的差距, Johns Hopkins Medicine Newsroom
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Contact the HHT Center
Sophia Kemble, MSN, RN
HHT Program Coordinator
The Johns Hopkins Hospital
Interventional Radiology Center
1800 Orleans Street
Baltimore MD, 21287
Phone: 410-614-3934
Fax: 410-367-2325
Email: [email protected]