3,691 results match your criteria Osler-Weber-Rendu Syndrome


Laryngeal hereditary hemorrhagic telangiectasia.

Ear Nose Throat J 2018 Dec;97(12):388

Laboratory of Phonetics, Faculty of Psychology, Research Institute for Language Sciences and Technology, University of Mons, Mons, Belgium.

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December 2018

Multiple Pulmonary and Hepatic Arteriovenous Malformations in a Patient With Rendu-Osler-Weber Disease.

Arch Bronconeumol 2018 Dec 5. Epub 2018 Dec 5.

Department of Radiology, Faculty of Medicine, Ataturk University, Erzurum, Turkey. Electronic address:

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December 2018

Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.

Clin Imaging 2018 Dec 2;54:37-39. Epub 2018 Dec 2.

Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02215, USA.

Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease. Read More

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December 2018
4 Reads

Links Between Strokes and Hereditary Hemorrhagic Telangiectasia: A Population-Based Study.

Can J Neurol Sci 2018 Dec 6:1-7. Epub 2018 Dec 6.

Department of Medicine, Division of Pulmonary,University of Alberta,Edmonton, Alberta,Canada.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease of abnormal vasculature where patients are predisposed to strokes of multiple etiologies. We assessed yearly stroke incidence among Albertans with HHT and compared with the general population. Given the tendency for stroke in HHT patients, we expected HHT patients to have higher stroke incidence, in particular at younger ages. Read More

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December 2018
1.599 Impact Factor

Decreased Levels of MicroRNAs-28-5p, -361-3p and Increased Insulin-Like Growth Factor 1 mRNA Levels in Mononuclear Cells from Hereditary Hemorrhagic Telangiectasia Patients.

Can J Physiol Pharmacol 2018 Dec 4. Epub 2018 Dec 4.

St. Michael's Hospital, Cardiology , 30 Bond Street , Toronto, Ontario, Ontario, Canada , M5B 1W8 ;

Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder inherited in an autosomal dominant manner. Patients with HHT can develop vascular dysplasias called telangiectasias and arteriovenous malformations (AVMs). Our objective was to profile and characterize microRNAs (miRs), short-noncoding RNAs that regulate gene expression post-transcriptionally, in HHT patient derived peripheral blood mononuclear cells (PBMCs). Read More

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December 2018
1 Read

Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia.

Clin Res Hepatol Gastroenterol 2018 Nov 14. Epub 2018 Nov 14.

Assistance publique-hôpitaux de Paris, hôpital Beaujon, service d'hépatologie, Inserm U1149, université Paris Diderot, 92110 Clichy, France.

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November 2018
2 Reads

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
9 Reads

MVP™ Micro Vascular Plug Systems for the Treatment of Pulmonary Arteriovenous Malformations.

Cardiovasc Intervent Radiol 2018 Nov 14. Epub 2018 Nov 14.

Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, 1800 Orleans Street, Zayed Tower 7203, Baltimore, MD, 21287, USA.

Purpose: To describe our institutional experience with MVP™ micro vascular plug systems for the treatment of pulmonary arteriovenous malformations (PAVMs).

Materials And Methods: We performed a retrospective medical record review of 52 patients with 119 PAVMs treated exclusively with MVP™ systems (69 procedures/153 MVP™ systems) between July 2014 and July 2018. All patients had PAVMs with feeding artery diameters ≥ 2 mm. Read More

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November 2018
4 Reads

Rendu-Osler-Weber syndrome.

Med Clin (Barc) 2018 Nov 1. Epub 2018 Nov 1.

Servicio de Radiodiagnóstico, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Tenerife, España.

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November 2018
1 Read

A pial arteriovenous fistula in infancy as the presenting manifestation of hereditary hemorrhagic telangiectasia.

World Neurosurg 2018 Oct 31. Epub 2018 Oct 31.

Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.

Background: Pial arteriovenous fistulas (PAVF) are rare, accounting for 1.6% to 4.7% of all intracranial vascular malformations. Read More

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October 2018
10 Reads

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Eur J Med Genet 2018 Oct 30. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform an array CGH in case of HHT. However, ENG has been involved in a contiguous gene syndrome due to a de novo 9q33. Read More

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October 2018
6 Reads

Pulmonary arteriovenous malformations.

Int J Cardiovasc Imaging 2018 Nov 1. Epub 2018 Nov 1.

Division of Interventional Radiology, Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. Although asymptomatic in ~ 50% individuals, it can present with the dreaded complications of stroke or intracranial abscess in high-risk individuals including pregnant women, if untreated. The mainstay of treatment is now endovascular embolization of the feeding artery which can alleviate the symptoms and prevent these complications. Read More

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November 2018

Pediatric Congenital Cerebrovascular Anomalies.

J Neuroimaging 2018 Oct 31. Epub 2018 Oct 31.

Department of Interventional Radiology, Sanford Aberdeen Clinic, Aberdeen, SD.

Congenital cerebrovascular anomalies in the pediatric age group are myriad with diverse etiologies. The purpose of this paper is to provide an imaging overview of congenital vascular malformations and vascular tumors, as these conditions are varied and the characteristic vascular abnormality may even suggest the underlying systemic condition in helping to guide further management. For example, the identification of an arterial anomaly such as agenesis/hypoplasia/duplication may warrant further evaluation for an associated syndrome. Read More

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October 2018
9 Reads

Liver Transplantation Trends and Outcomes for Hereditary Hemorrhagic Telangiectasia In the United States.

Transplantation 2018 Oct 16. Epub 2018 Oct 16.

William J. von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, MN.

Introduction: Liver arteriovenous malformations (AVM) in Hereditary Hemorrhagic Telangiectasia (HHT) can necessitate liver transplantation. There is limited data on HHT patients undergoing LT in the United States.

Methods: Two sources of data were utilized: (1) Scientific Registry of Transplant Recipients (SRTR) database (1998-2016) (2) Single center liver transplant database (Mayo Clinic Rochester, MN). Read More

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October 2018
8 Reads

Hereditary Hemorrhagic Telangiectasia: Time Not Only to Recognize the Disease But Also to Prioritize the Symptomatic Patient on the Waiting List.

Authors:
Jan Lerut

Transplantation 2018 Oct 16. Epub 2018 Oct 16.

Université catholique Louvain UCL, Brussels, Belgium.

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October 2018

Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis.

Laryngoscope 2018 Oct 17. Epub 2018 Oct 17.

Department of Otorhinolaryngology-Head and Neck Surgery, Division of Head and Neck and Reconstructive Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

Objectives/hypothesis: We aimed to investigate if vascular endothelial growth factor (VEGF) and other angiogenic and inflammatory factors correlated with the clinical presentation in hereditary hemorrhagic telangiectasia (HHT) patients, particularly in regard to the severity of epistaxis.

Study Design: Prospective, comparative, single-center study.

Methods: One hundred nine samples were collected from 75 HHT patients attending the ear, nose, and throat department at Oslo University Hospital from February 2012 to August 2013. Read More

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October 2018

Thyroplasty in unilateral vocal fold paresis with coexisting hereditary hemorrhagic telenagiectasia: A case report.

Medicine (Baltimore) 2018 Oct;97(41):e12727

Department of Otolaryngology, Head and Neck Surgery, Poznań University of Medical Sciences, Poland.

Rationale: The coincidence of an idiopathic unilateral vocal fold paresis and hereditary hemorrhagic telenagiectasia (HHT) is extremely rare and has not been described in the available literature yet.

Patients Concerns: A 55-year-old female was admitted to hospital due to acute onset of hoarseness, voice fatigue, and effort dyspnea. In the past, the patient was diagnosed with HHT and on admission presented characteristic vascular lesions in the oral cavity. Read More

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October 2018
7 Reads

Transcatheter occlusion of complex pulmonary arteriovenous malformations in a cyanotic child.

J Cardiol Cases 2018 Aug 28;18(2):65-69. Epub 2018 May 28.

Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

This case report presents a 16-month-old boy with isolated mild cyanosis diagnosed to have complex pulmonary arteriovenous malformations. Three-dimensional computed tomography with volume rendering has provided the diagnosis, enabled detailed imaging, and facilitated transcatheter device occlusion of the complex arteriovenous malformations by vascular plugs and coils. Magnetic resonance of the brain revealed associated dural arteriovenous malformation. Read More

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August 2018
1 Read

Bone morphogenetic protein signaling is required for RAD51-mediated maintenance of genome integrity in vascular endothelial cells.

Commun Biol 2018 24;1:149. Epub 2018 Sep 24.

1Cardiovascular Research Institute, University of California, San Francisco, San Francisco, 94143 CA USA.

The integrity of blood vessels is fundamental to vascular homeostasis. Inactivating mutations in the bone morphogenetic protein (BMP) receptor type II (BMPR2) gene cause hereditary vascular disorders, including pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia, suggesting that BMPR2 and its downstream signaling pathway are pivotal to the maintenance of vascular integrity through an unknown molecular mechanism. Here we report that inactivation of BMPR2 in pulmonary vascular endothelial cells results in a deficit of RAD51, an enzyme essential for DNA repair and replication. Read More

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September 2018
2 Reads

Infections and vaccination in hereditary hemorrhagic telangiectasia: microbiological evidence-based considerations.

Haematologica 2018 Oct;103(10):e492-e495

Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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October 2018

Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension.

Pulm Circ 2019 Apr-Jun;9(2):2045894018805406. Epub 2018 Sep 27.

3 Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.

Pulmonary arterial hypertension (PAH) can be found in patients suffering from a loss-of-function mutation of the gene encoding for the activin receptor-like kinase 1 (ALK-1), a bone morphogenetic protein (BMP) type 1 receptor. Interestingly, ALK-1 mutations also lead to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease characterized by arteriovenous malformations (AVMs) leading to potentially life-threatening bleeding complications such as epistaxis. Current therapeutic options for both diseases are limited and often only temporary or accompanied by severe side effects. Read More

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September 2018
1 Read

Bevacizumab: A Rare Cause of Nonischemic Cardiomyopathy.

Case Rep Cardiol 2018 27;2018:1361326. Epub 2018 Aug 27.

Reading Hospital, Tower Health System, West Reading, PA, USA.

Left ventricular dysfunction is a rare side effect of bevacizumab occurring in 2-4% of cases. We report the case of a 68-year-old woman who presented to the emergency department (ED) with sudden onset of shortness of breath, orthopnea, and paroxysmal nocturnal dyspnea. She was tachypneic and in respiratory distress. Read More

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Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm.

Intern Med 2018 Sep 12. Epub 2018 Sep 12.

Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan.

A 52-year-old man with recurrent epistaxis and palpebral conjunctival telangiectasia visited our hospital for a follow-up checkup for gastrointestinal polyposis. At 48 years of age, he underwent Y-graft replacement for an abdominal aortic aneurysm. Arteriovenous malformation (AVM) was detected in his lungs, and a genetic test revealed an SMAD4 mutation. Read More

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September 2018
1 Read

Medical Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Meta-analysis.

Otolaryngol Head Neck Surg 2018 Sep 11:194599818797316. Epub 2018 Sep 11.

2 Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.

Objectives The aim of this study (PROSPERO ID: CRD42017081952) was to evaluate medical treatment for epistaxis from hereditary hemorrhagic telangiectasia (HHT). Data Sources PubMed, Embase, Scopus, and Cochrane Library databases were interrogated from their inceptions to November 2017. Review Methods Randomized clinical trials comparing medical treatment with placebo for epistaxis of HHT were included. Read More

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September 2018
1 Read

The use of thalidomide therapy for refractory epistaxis in hereditary haemorrhagic telangiectasia: systematic review.

J Laryngol Otol 2018 Oct 7;132(10):866-871. Epub 2018 Sep 7.

Department of ENT,Head and Neck Surgery,Northampton General Hospital,UK.

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant condition, characterised by mucocutaneous telangiectasia, aneurysm and arteriovenous malformations. Thalidomide has been used as a therapeutic strategy for refractory epistaxis in hereditary haemorrhagic telangiectasia patients. This review set out to examine the evidence for using thalidomide in the management of refractory epistaxis in hereditary haemorrhagic telangiectasia patients. Read More

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October 2018

Systemic bevacizumab for the treatment of chronic bleeding in hereditary haemorrhagic telangiectasia.

J Intern Med 2018 Sep 6. Epub 2018 Sep 6.

Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Background: Hereditary haemorrhagic telangiectasia (HHT) is a rare hereditary multisystem vascular disorder causing visceral arteriovenous malformations and mucocutaneous bleeding. Chronic gastrointestinal bleeding and epistaxis often produce profound anaemia refractory to conventional treatment. Bevacizumab, an anti-vascular endothelial growth factor monoclonal antibody, may be effective in treatment of bleeding in HHT. Read More

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September 2018
1 Read

Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia.

Angiogenesis 2018 Sep 6. Epub 2018 Sep 6.

GlaxoSmithKline, King of Prussia, PA, USA.

Pazopanib (Votrient) is an orally administered tyrosine kinase inhibitor that blocks VEGF receptors potentially serving as anti-angiogenic treatment for hereditary hemorrhagic telangiectasia (HHT). We report a prospective, multi-center, open-label, dose-escalating study [50 mg, 100 mg, 200 mg, and 400 mg], designed as a proof-of-concept study to demonstrate efficacy of pazopanib on HHT-related bleeding, and to measure safety. Patients, recruited at 5 HHT Centers, required ≥ 2 Curacao criteria AND [anemia OR severe epistaxis with iron deficiency]. Read More

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September 2018
1 Read

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

Rev Clin Esp 2018 Dec 1;218(9):468-476. Epub 2018 Sep 1.

Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Central de la Cruz Roja, Madrid, España.

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation.

Material And Method: After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described.

Results: 141 patients were included, of which 91 (64. Read More

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December 2018
8 Reads

Hereditary Hemorrhagic Telangiectasia - Early Childhood Presentation with Hepatic Failure.

J Coll Physicians Surg Pak 2018 Sep;28(9):S195-S197

Department of Pediatrics, Shifa College of Medicine, Islamabad.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. Read More

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September 2018
10 Reads

Urologic Surgery with Multisystem Comorbidities: A Case Report.

Am J Case Rep 2018 Sep 1;19:1047-1052. Epub 2018 Sep 1.

Department of Urology, McGuire Veterans Administration Medical Center, Richmond, VA, USA.

BACKGROUND Originally implemented for colorectal surgery, enhanced perioperative protocols have been incorporated into many surgical fields in an effort to improve outcomes. The cornerstone of many strategies includes patient education, liberalized oral intake on the day of surgery, no routine bowel prep, targeted multimodal analgesia, cautious use of IV hydration, early extubation, avoidance of NG tubes and/or surgical drains, and encouraging early postoperative ambulation. CASE REPORT We report on the successful outcome of a single patient with a rare autosomal dominant disorder (hereditary hemorrhagic telangiectasia) with multisystem involvement including pulmonary, cardiac, hematologic, gastrointestinal, renal, oncologic, and hepatic comorbidities, scheduled for open nephrectomy. Read More

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September 2018
2 Reads

[Osler-Weber-Rendu disease diagnosed during pregnancy because of an important hemothorax].

Gynecol Obstet Fertil Senol 2018 09 29;46(9):668-670. Epub 2018 Aug 29.

Pôle femme et enfant, CHU Estaing Clermont-Ferrand, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; Équipe « Translationnal approach to epithelial injury and repair », université Clermont Auvergne, CNRS, Inserm, GReD, 63000 Clermont-Ferrand, France. Electronic address:

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September 2018
1 Read

Pulmonary Arteriovenous Malformations: Safety and Efficacy of Microvascular Plugs.

AJR Am J Roentgenol 2018 Nov 30;211(5):1135-1143. Epub 2018 Aug 30.

1 Department of Radiology, Hôpital Tenon, AP-HP, 4 Rue de la Chine, 75020 Paris, France.

Objective: The purpose of this study is to assess the safety and efficacy of microvascular plugs for the treatment of pulmonary arteriovenous malformations (PAVMs).

Materials And Methods: From July 2014 to March 2017, 22 consecutive patients with hereditary hemorrhagic telangiectasia underwent treatment of PAVMs using microvascular plugs. The number, location, and type (simple or complex) of PAVM and the diameter of the feeding artery were assessed at angiography. Read More

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November 2018
1 Read

Hepatocellular Carcinoma in a Patient with Hereditary Hemorrhagic Telangiectasia.

Intern Med 2018 Aug 24. Epub 2018 Aug 24.

Department of Hepatobiliary and Pancreatic Surgery, Japanese Red Cross Society Himeji Hospital, Japan.

A 76-year-old woman with hereditary hemorrhagic telangiectasia (HHT) showed elevated serum hepatobiliary enzyme levels, and abdominal imaging studies revealed a hepatic tumor. Her serum alpha-fetoprotein level was 759.5 ng/mL. Read More

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August 2018
6 Reads

Cutaneous collagenous vasculopathy: development after coronary artery bypass surgery.

Dermatol Online J 2018 May 15;24(5). Epub 2018 May 15.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana.

Cutaneous collagenous vasculopathy (CCV) is a rare benign microangiopathy of the superficial dermal vessels. Clinically, it is characterized by widespread, asymptomatic development of cutaneous telangiectasia in the absence of systemic symptoms. Morphologically, it most resembles generalized essential telangiectasia and other telangiectatic syndromes such as telangiectasia macularis eruptiva perstans (TMEP), ataxia telangiectasia, and hereditary hemorrhagic telangiectasia. Read More

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May 2018
5 Reads

Targeting Endoglin to Treat Metastatic Renal Cell Carcinoma: Lessons from Osler-Weber-Rendu Syndrome.

Oncologist 2018 Aug 23. Epub 2018 Aug 23.

Division of Oncology, Department of Internal Medicine, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA

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August 2018
19 Reads

2-year follow-up of Lung transplantation as a treatment of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) - a case report.

Adv Respir Med 2018 Aug 15. Epub 2018 Aug 15.

Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, SDMZ in Zabrze, Medical University of Silesia in Katowice, Silesian Centre for Heart Disease in Zabrze, Poland.

Hemorrhagic telangiectasia (HHT) is a disease of initially mild course - manifesting with recurrent nosebleeds and increased fatigue. Nevertheless, its progression can deteriorate patient's health. Solid organ transplantation becomes the only therapeutic option to save a life. Read More

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August 2018
2 Reads

Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia.

Dis Model Mech 2018 09 21;11(9). Epub 2018 Sep 21.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28040 Madrid, Spain

Endoglin is a transmembrane glycoprotein expressed in vascular endothelium that plays a key role in angiogenesis. Mutations in the endoglin gene () cause hereditary hemorrhagic telangiectasia type 1 (HHT1), characterized by arteriovenous malformations (AVMs) in different organs. These vascular lesions derive from abnormal processes of angiogenesis, whereby aberrant vascular remodeling leads to focal loss of capillaries. Read More

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September 2018
10 Reads

General Principles for Preoperative Planning and Microsurgical Treatment of Pediatric Brain Arteriovenous Malformations: 2-Dimensional Operative Video.

Oper Neurosurg (Hagerstown) 2018 Aug 7. Epub 2018 Aug 7.

Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Children with arteriovenous malformations (AVMs) are at cumulative, life-long risk of debilitating and fatal intracranial hemorrhage, especially with syndromes such as hereditary hemorrhagic telangiectasia. Cerebral angiography is the gold standard for diagnosis and allows simultaneous adjunctive embolization limiting radiation and contrast exposure and intraoperative blood loss, important in pediatric patients with low blood volume. Microsurgical resection of low-grade AVMs offers cure with minimal morbidity. Read More

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A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations.

Medicine (Baltimore) 2018 Aug;97(32):e11513

Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Indiana University School of Medicine.

Rationale: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vessel growth that results in telangiectasias and arteriovenous malformations (AVMs) in the skin, mucosa, and viscera. Up to 30% of patients with HHT exhibit pulmonary AVMs (PAVMs), clinically manifesting as right-to-left shunting and hypoxemia.

Patient Concerns: We report an unusual and novel case of a patient with HHT who lacked clinical sequelae of portal hypertension but presented to clinic with hypoxemia without dyspnea. Read More

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August 2018
5 Reads

Clinical features and treatment of hereditary hemorrhagic telangiectasia.

Medicine (Baltimore) 2018 Aug;97(31):e11687

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by vascular dysplasia, including typically systemic telangiectases and arteriovenous malformations (AVMs). Due to its variable clinical manifestations, HHT patients often seek medical care from different medical subspecialties and thus experience delays in diagnosis and treatment.This study is designed to analyze the clinical features and treatment options for patients with HHT. Read More

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August 2018
14 Reads

A new mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

Respir Med Case Rep 2018 2;25:73-77. Epub 2018 Jul 2.

Department of Respiratory Medicine and Allergology, Sapporo Medical University, Japan.

We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. Read More

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The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia.

Laryngoscope Investig Otolaryngol 2018 Jun 19;3(3):178-181. Epub 2018 Apr 19.

HHT Center for Excellence, University of Utah Salt Lake City Utah U.S.A.

Introduction: Epistaxis is the most common symptom of hereditary hemorrhagic telangiectasia (HHT). Complete nasal closure is one of the treatment options for patients with severe, intractable epistaxis. In our experience, this surgery can be life changing in a positive sense; but many patients as well as their physicians understandably fear that such a procedure will diminish certain aspects of quality of life (QOL). Read More

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Pulmonary arteriovenous malformations: endovascular therapy.

Cardiovasc Diagn Ther 2018 Jun;8(3):338-349

Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Pulmonary arteriovenous malformations (PAVM) are abnormal direct communications between the branches of pulmonary arteries and veins, and are often seen in patients with hereditary hemorrhagic telangiectasia (HHT). If untreated, the right to left shunt can result in symptoms of hypoxemia, paradoxical emboli to the left side circulation, stroke and intracranial abscess. Endovascular therapy is a minimally invasive outpatient based treatment wherein the feeding artery to the PAVM is occluded with coils or plugs or a combination of both and is associated with minimal morbidity and no mortality. Read More

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Pulmonary arteriovenous malformations: diagnosis.

Cardiovasc Diagn Ther 2018 Jun;8(3):325-337

Department of Radiology, UT Southwestern Medical Center, Dallas, Texas, USA.

Pulmonary arteriovenous malformations (PAVMs) are rare, abnormal low resistance vascular structures that connect a pulmonary artery to a pulmonary vein, thereby bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. The spectrum of PAVMs extends from microscopic lesions causing profound hypoxemia and ground glass appearance on computed tomography (CT) but with normal catheter angiographic findings to classic pulmonary aneurysmal connections that abnormally connect pulmonary veins and arteries. These malformations most commonly are seen in hereditary hemorrhagic telangiectasia (HHT). Read More

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June 2018
4 Reads

Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects.

Cardiovasc Diagn Ther 2018 Jun;8(3):316-324

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of blood vessel formation resulting in mucocutaneous telangiectasias and visceral arteriovenous malformations. Nearly half of patients with HHT will have pulmonary arteriovenous malformations (PAVM) that place them at risk for potentially fatal complications that can occur when blood bypasses the pulmonary capillary circulation or as a result of PAVM rupture. Other manifestations of HHT outside the lung may increase the rate and severity of PAVM complications, creating unique clinical challenges. Read More

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June 2018
1 Read

The Impact of Small Bowel Endoscopy in Patients with Hereditary Hemorrhagic Telangiectasia

Turk J Haematol 2018 Nov 24;35(4):300-301. Epub 2018 Jul 24.

Sheffield Teaching Hospitals, Royal Hallamshire Hospital, Academic Department of Gastroenterology, Sheffield, England

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November 2018
1 Read

[Gene identification in a family of hereditary hemorrhagic telangiectasia].

Zhonghua Xue Ye Xue Za Zhi 2018 Jun;39(6):476-479

Department of Hematology, Affiliated Hospital of Chengde Medical College, Chengde 067000, China.

To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. Read More

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June 2018
14 Reads

Characteristics and outcomes of venous thromboembolism in patients with hereditary hemorrhagic telangiectasia.

Thromb Res 2018 09 4;169:41-43. Epub 2018 Jul 4.

Division of Hematology and Oncology, University of North Carolina, Chapel Hill, NC, USA.

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September 2018
5 Reads
2.450 Impact Factor