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Gastroenterology 2021 Jun 8. Epub 2021 Jun 8.

Department of Radiology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China. Electronic address:

BMC Pulm Med 2021 Jun 10;21(1):197. Epub 2021 Jun 10.

Department of Pulmonary and Critical Care Medicine, Peking University People's Hospital, Beijing, 100044, People's Republic of China.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT.

Methods: We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger sequencing. Read More

Stroke 2021 Jun 4:STROKEAHA120032073. Epub 2021 Jun 4.

University of Connecticut, Storrs (S. D.P., M.J.A.).

Background And Purpose: Pulmonary arteriovenous fistulas (PAVFs) are a treatable cause of acute ischemic stroke (AIS), not mentioned in current American Heart/Stroke Association guidelines. PAVFs are recognized as an important complication of hereditary hemorrhagic telangiectasia.

Methods: The prevalence of PAVF and hereditary hemorrhagic telangiectasia among patients admitted with AIS in the United States (2005-2014) was retrospectively studied, utilizing the Nationwide Inpatient Sample database. Read More

J Clin Med 2021 May 25;10(11). Epub 2021 May 25.

Multidisciplinary Gemelli Group for HHT, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

Background: Hereditary hemorrhagic telangiectasia (HHT) needs high-quality care and multidisciplinary management. During the COVID-19 pandemic, most non-urgent clinical activities for HHT outpatients were suspended. We conducted an analytical observational cohort study to evaluate whether medical and psychological support, provided through remote consultation during the COVID-19 pandemic, could reduce the complications of HHT. Read More

J Clin Med 2021 May 6;10(9). Epub 2021 May 6.

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35042 Marburg, Germany.

Background: Recurrent bleeding in patients with hereditary hemorrhagic telangiectasia (HHT) can lead to chronic iron deficiency anemia (CIDA). Existing research points to CIDA as a contributing factor in restless leg syndrome (RLS). The association between HHT-related symptoms and the prevalence of RLS was analyzed. Read More

Intern Med 2021 May 29. Epub 2021 May 29.

Tsubasa Home Care Clinic Nishifunabashi, Japan.

Interv Neuroradiol 2021 May 29:15910199211022499. Epub 2021 May 29.

Division of Pediatric Pulmonology, Mayo Clinic, Rochester, MN, USA.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder that results in arteriovenous malformations (AVMs) in the nose, mucocutaneous surfaces and visceral organs, including lung, brain, liver, bowel and rarely spinal cord. We describe a case of a young child with HHT who presented with acute paraparesis due to acute thrombosis of a spinal perimedullary arteriovenous fistula. Patient underwent coil embolization of spinal arteriovenous shunt with resolution of clinical symptoms. Read More

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 May;56(5):436-441

Department of Otorhinolaryngology Head and Neck Surgery, the First Clinical Center of Chinese People's Liberation Army General Hospital, Beijing 100853, China Allergy Department, Beijing Shijitan Hospital, Capital Medical University, Beijing 100038, China.

To observe the clinical effects of bevacizumab in the treatment of familial epistaxis caused by hereditary hemorrhagic telangiectasia (HHT). The data of 27 patients with familial epistaxis caused by HHT who were treated with bevacizumab intravenously from Beijing Anzhen Hospital, the First Clinical Center of Chinese People's Liberation Army General Hospital and Binzhou Central Hospital between December 2016 and December 2019 were retrospectively analyzed. There were 14 males and 13 females, aged (55. Read More

Ugeskr Laeger 2021 05;183(20)

Patients with hereditary haemorrhagic telangiectasia (HHT) are known to suffer from cerebral arteriovenous malformations (CAVMs). In this review, we explore existing literature for bleeding risk, interventional therapy and neuroradiological features in HHT-related CAVMs. Studies estimate the annual intracerebral haemorrhage rate of CAVMs in HHT patients to be 0. Read More

Radiology 2021 May 11:203487. Epub 2021 May 11.

From the Department of Radiology and Biomedical Imaging (S.W.H., M.O., M.C.), HHT Center of Excellence (S.W.H., J.S., M.O., M.C.), and Department of -Pediatrics (J.S.), University of California San Francisco, 505 Parnassus Ave, L-351, San Francisco, CA 94143-0628.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that manifests as vascular malformations in the brain, lung, liver, gastrointestinal tract, nasal mucosa, and skin. Diagnosis and management of HHT is guided in large part by imaging studies, making it a condition with which the radiology community needs familiarity. Proper screening and care lead to improved morbidity and mortality in patients with HHT. Read More

Cureus 2021 Apr 7;13(4):e14353. Epub 2021 Apr 7.

Gastroenterology, Shimane University Hospital, Izumo, JPN.

Background This study was performed to examine the prevalence of asymptomatic angiodysplasia detected in upper gastrointestinal endoscopic examinations and of hereditary hemorrhagic telangiectasia (HHT) suspected cases. Methodology The study participants were 5,034 individuals (3,206 males, 1,828 females; mean age 53.5 ± 9. Read More

World J Clin Cases 2021 May;9(13):3079-3089

Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease. Very few patients suffering from HHT present with associated pulmonary arterial hypertension (PAH), which may result in a poor prognosis. Here, we report a case of HHT with PAH. Read More

J Thromb Haemost 2021 Apr 30. Epub 2021 Apr 30.

Harvard Medical School, Boston, MA, USA.

Over the past two decades, therapies targeting angiogenesis have developed into a major class of cancer therapeutics. The vascular endothelial growth factor (VEGF) family of signaling proteins, a group of potent angiogenic growth factors, and their receptors represent the main targets of this therapeutic class. To date, 16 antiangiogenic agents have been approved in the United States for the treatment of cancer and several more are in development. Read More

J Clin Med 2021 Apr 27;10(9). Epub 2021 Apr 27.

Molecular Biomedicine Department, Centro de Investigaciones Biológicas Margarita Salas, CSIC, 28040 Madrid, Spain.

At the moment of writing this communication, the health crisis derived from the COVID-19 pandemic has affected more than 120 million cases, with 40 million corresponding to Europe. In total, the number of deaths is almost 3 million, but continuously rising. Although COVID-19 is primarily a respiratory disease, SARS-CoV-2 infects also endothelial cells in the pulmonary capillaries. Read More

J Clin Med 2021 Apr 14;10(8). Epub 2021 Apr 14.

Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.

A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event. We provide a systematic literature review of the sporadically reported founder effects in hereditary hemorrhagic telangiectasia (HHT). Read More

Acta Med Port 2021 Apr 28. Epub 2021 Apr 28.

Serviço de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço. Hospital de Braga. Braga. Portugal.

Pulm Pharmacol Ther 2021 Jun 22;68:102033. Epub 2021 Apr 22.

Division of Allergy, Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, Boston University School of Medicine, Boston, MA, USA.

Rationale: Pulmonary Arterial Hypertension (PAH), a rare complication of HHT is associated with poor outcome. There are no trials to date that have investigated whether pulmonary vasodilator therapy improves hemodynamics or survival in this disease.

Objective: To determine whether pulmonary vasodilator therapy improves survival, exercise capacity, or hemodynamics in HHT patients with pre-capillary PH. Read More

Transl Res 2021 Apr 22. Epub 2021 Apr 22.

Division of Cardiology, Keenan Research Center for Biomedical Science, St. Michael's Hospital, Unity Health Toronto, University of Toronto, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease characterized by vascular dysplasia. Mutations of the endoglin (ENG) gene that encodes a co-receptor of the transforming growth factor β1 signaling pathway cause type I HHT. ENG is primarily expressed in endothelial cells (ECs), but its interaction with other key angiogenic pathways to control angiogenesis has not been well addressed. Read More

Eur J Intern Med 2021 Jun 20;88:89-95. Epub 2021 Apr 20.

HHT Unit. Hospital Universitari de Bellvitge, Barcelona Spain; Internal Medicine Department. Hospital Universitari de Bellvitge, Barcelona Spain; Bellvitge Biomedical Research Institute (IDIBELL), Barcelona Spain; Faculty of Medicine and Health Sciences. Universitat de Barcelona, Barcelona, Spain. Electronic address:

Background: Adrenomedullin (AM) is a vasoactive peptide mostly secreted by endothelial cells with an important role in preserving endothelial integrity.  The relationship between AM and hereditary hemorrhagic telangiectasia (HHT) is unknown. We aimed to compare the serum levels and tissue expression of AM between HHT patients and controls. Read More

J Pediatr Intensive Care 2021 Jun 29;10(2):155-158. Epub 2020 Apr 29.

Department of Pediatrics, Pediatric Critical Care Medicine, Penn State Hershey Children's Hospital, Pennsylvania, United States.

Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized genetic disorder of vascular development in pediatric patients. Its presentation can range from mild cutaneous findings to life-threatening hemorrhage from arteriovenous malformations. Clinical diagnosis can be challenging in the pediatric population as disease manifestations evolve over time and may be difficult to identify in younger patients. Read More

J Echocardiogr 2021 Apr 15. Epub 2021 Apr 15.

Department of Cardiovascular Medicine, Akita University Graduate School of Medicine, 1-1-1, Hondoh, Akita, 010-8543, Japan.

Over the past several years, a novel ultrasound imaging modality termed superb microvascular imaging (SMI) has enabled visualization of microvessels. SMI ultrasound studies of peripheral artery diseases have significantly extended our knowledge of tissue microcirculation and the arterial microenvironments of atherosclerotic lesions. We here present an overview of current knowledge on the utility of SMI assessment of vascular diseases and highlight certain peripheral microcirculation disorders for which SMI is particularly valuable. Read More

JAMA Otolaryngol Head Neck Surg 2021 Apr 15. Epub 2021 Apr 15.

Department of Otolaryngology-Head and Neck Surgery, Columbia University Irving Medical Center, New York, New York.

OTO Open 2021 Jan-Mar;5(1):2473974X211003900. Epub 2021 Mar 29.

Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

Mol Genet Genomic Med 2021 Apr 9:e1685. Epub 2021 Apr 9.

Department of Medicine, University of Cambridge, Cambridge, UK.

Background: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not been confirmed in individuals with ultra-rare homozygous GDF2 (BMP9 gene) nonsense mutations. We studied two pediatric patients homozygous for GDF2 (BMP9 gene) nonsense mutations: one with PAH (c.[76C>T];[76C>T] or p. Read More

Curr Probl Diagn Radiol 2021 Mar 11. Epub 2021 Mar 11.

Department of Radiology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

Osler-Weber-Rendu, also known as Hereditary Hemorrhagic Telangiectasia, is an autosomal dominant disease with phenotypic manifestations that include pulmonary, cerebrospinal, hepatic, and other visceral arteriovenous malformations (AVMs). Pulmonary AVMs can result in hypoxemia, hemoptysis, or stroke due to paradoxical embolism. The mainstay of treatment is transcatheter embolization. Read More

Rhinology 2021 Apr;59(2):212-218

Department of Otorhinolaryngology and Head and Neck Surgery, Oslo University Hospital, Medical Faculty, University of Oslo, Oslo, Norway.

Background: Different institutions use different grading systems for hereditary haemorrhagic telangiectasia (HHT)-associated epistaxis. It is important to have a universal, standardized grading system to compare and evaluate the effectiveness of different treatment options. We introduced the "Intensity, Frequency and need for Blood Transfusion" (IFT) grading system for HHT-associated epistaxis in 2008. Read More

Life (Basel) 2021 Mar 5;11(3). Epub 2021 Mar 5.

Division of Clinical Laboratory Science and Specialist Clinical Hemostasis Laboratory, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diagnostic work on cases with certain bleeding disorders. Read More

Int J Mol Sci 2021 Mar 27;22(7). Epub 2021 Mar 27.

Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

In this review, we discuss the role of transforming growth factor-beta (TGF-β) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous malformations (AVM) and pulmonary hypertension (PH), in hereditary hemorrhagic telangiectasia (HHT). HHT or Rendu-Osler-Weber disease is an autosomal dominant genetic disorder with an estimated prevalence of 1 in 5000 persons and characterized by epistaxis, telangiectasia and AVMs in more than 80% of cases, HHT is caused by a mutation in the ENG gene on chromosome 9 encoding for the protein endoglin or activin receptor-like kinase 1 (ACVRL1) gene on chromosome 12 encoding for the protein ALK-1, resulting in HHT type 1 or HHT type 2, respectively. A third disease-causing mutation has been found in the SMAD-4 gene, causing a combination of HHT and juvenile polyposis coli. Read More

J Neurosurg Spine 2021 Apr 2:1-11. Epub 2021 Apr 2.

1Department of Diagnostic and Interventional Neuroradiology, Hôpital Foch, Suresnes, Hauts-de-Seine, France.

Objective: Few classifications of intradural spinal arteriovenous shunts (ID-SAVSs) have considered their anatomical localization in relation to their phenotype and angioarchitectonics. The authors propose another vision of ID-SAVSs allowing a reappraised classification based on analysis of the anatomical disposition, angioarchitecture, and histogenetic location of these vascular malformations.

Methods: The radiological and clinical records of 210 patients with ID-SAVSs were retrospectively reviewed, considering their localization, vascular architectonics, and correlation with the 5 histogenetic units of the spinal cord. Read More

Neurol Sci 2021 Mar 29. Epub 2021 Mar 29.

Department of Neurology, University of New Mexico Health Sciences Center, University of New Mexico, MSC-10-5620, 1 University of New Mexico, Albuquerque, NM, 87131, USA.

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease with prevalence of approximately 1 in 5000-10,000. We evaluated the prevalence and association of cerebrovascular and cardiovascular comorbidities in HHT patients using national database.

Methods: Retrospective observational study was performed using National Inpatient Sampling (NIS) database for the year 2014. Read More