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Gen Dent 2022 Jul-Aug;70(4):67-71

Hereditary hemorrhagic telangiectasia (HHT) is a rare condition in which fragile vascular walls lead to increased risks of bleeding, cerebral abscesses, arteriovenous malformations, anemia, and thrombosis. To date, no protocol has been established for optimizing the clinical outcomes of periodontal treatment in patients with this condition. The aim of this case report is to describe a safe clinical approach to periodontal treatment in a patient with HHT. Read More

Front Surg 2022 31;9:861797. Epub 2022 May 31.

Department of Thoracic Surgery, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi, China.

Pulmonary arteriovenous fistula (PAVF) is a rare pulmonary vascular lesion, more than 80% of which is caused by congenital abnormal development of pulmonary capillaries. The incidence of PAVF ranges from 2/100,000 to 3/100,000, with no difference in the male and female ratio. Congenital PAVF is often associated with hereditary hemorrhagic telangiectasia (HHT). Read More

Orphanet J Rare Dis 2022 06 13;17(1):220. Epub 2022 Jun 13.

The Center of Clinical Excellence for Hereditary Hemorrhagic Telangiectasias at the Johns Hopkins Hospital, Baltimore, MD, USA.

Background: For extreme hereditary hemorrhagic telangiectasia (HHT) disease, treatments such as intravenous bevacizumab are often utilized. However, whether its efficacy is similar across diverse races and ethnicities is unclear.

Methods: In this systematic review, we performed a search for English-language articles identified through PubMed, Embase, and Scopus databases whose research occurred in the United States (US). Read More

J Clin Med 2022 May 28;11(11). Epub 2022 May 28.

CIBERER, Unidad 707, Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been described in the ENG (HHT1) or ACVRL1/ALK1 (HHT2) genes, all affecting endothelial homeostasis. Read More

Front Med (Lausanne) 2022 19;9:871903. Epub 2022 May 19.

Department of Physiology and Pharmacology, Universidad de Salamanca, Salamanca, Spain.

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominant genetic disorder involving defects in two predominant genes known as endoglin (; HHT-1) and activin receptor-like kinase 1 (; HHT-2). It is characterized by mucocutaneous telangiectases that, due to their fragility, frequently break causing recurrent epistaxis and gastrointestinal bleeding. Because of the severity of hemorrhages, the study of the hemostasis involved in these vascular ruptures is critical to find therapies for this disease. Read More

Cureus 2022 Apr 27;14(4):e24517. Epub 2022 Apr 27.

Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK.

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the , , and  genes, which code for the formation of blood vessels. The most common symptom is recurring nosebleed (epistaxis; due to rupture of nasal mucosal telangiectasia), which begins in childhood and affects about 90-95% of people with HHT. Read More

J Med Case Rep 2022 May 29;16(1):211. Epub 2022 May 29.

Department of Cardiology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.

Background: Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, induces arteriovenous malformations in visceral organs. Arteriovenous malformations increase the risk of severe infections and are a common complication associated with hemorrhagic telangiectasia. However, cases of endocarditis associated with hemorrhagic telangiectasia are rarely reported. Read More

J Clin Med 2022 May 10;11(10). Epub 2022 May 10.

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

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder caused, in more than 80% of cases, by mutations of either the endoglin () or the activin A receptor-like type 1 () gene. Several hundred variants have been identified in these HHT-causing genes, including deletions, missense and nonsense mutations, splice defects, duplications, and insertions. In this study, we have analyzed retrospectively collected images of magnetic resonance angiographies (MRA) of the brain of HHT patients, followed at the HHT Center of our University Hospital, and looked for the distribution of cerebrovascular phenotypes according to specific gene variants. Read More

Mol Genet Genomic Med 2022 May 27:e1972. Epub 2022 May 27.

General Biology and Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF-β/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in-frame deletion c. Read More

Stem Cells Int 2022 16;2022:4460041. Epub 2022 May 16.

Division of Cardiology, Keenan Research Center for Biomedical Science, St. Michael's Hospital, Unity Health Toronto, University of Toronto, Toronto, ON, Canada M5B 1T8.

Endothelial cell (EC) dysfunction has been implicated in a variety of pathological conditions. The collection of ECs from patients is typically conducted postmortem or through invasive procedures, such as surgery and interventional procedures, hampering efforts to clarify the role of ECs in disease onset and progression. In contrast, endothelial colony-forming cells (ECFCs), also termed late endothelial progenitor cells, late outgrowth endothelial cells, blood outgrowth endothelial cells, or endothelial outgrowth cells, are obtained in a minimally invasive manner, namely, by the culture of human peripheral blood mononuclear cells in endothelial growth medium. Read More

Vestn Otorinolaringol 2022 ;87(2):80-83

Tyumen State Medical University, Tyumen, Russia.

A rare clinical case of recurrent nosebleeds associated with Randu-Osler disease, in which drug, hemostatic, transfusion therapy and combined nasal tamponade were ineffective, required ligation of the external carotid arteries on both sides, is presented. Read More

Ugeskr Laeger 2022 May;184(19)

Neurokirurgisk Afdeling, Odense Universitetshospital.

Capillary malformations - arteriovenous malformation, hereditary hemorrhagic telangiectasia and Sturge-Weber syndrome - are rare diseases in which cutaneous capillary malformations (CM) may be associated with cerebral vascular malformations. The clinical presentation of each disease is described with focus on how to distinguish them in the clinic and differential diagnoses are listed. This review finds that upon thorough and careful examination of patients, cutaneous CM might be a diagnostic hallmark for underlying disease and therefore a significant clinical observation. Read More

AJNR Am J Neuroradiol 2022 06 19;43(6):844-849. Epub 2022 May 19.

A.R.G. Argentine Rendu Study Group (M.S.P.A., C.V., C.H.B., A.R.C., VA.P., D.D., M.M.B., M.M.S.), Buenos Aires, Argentina.

Background And Purpose: Neurologic manifestations in hereditary hemorrhagic telangiectasia include an increased incidence of brain abscesses and ischemic strokes due to paradoxic embolization in addition to a wide spectrum of symptoms and complications due to typical brain vascular malformations. Intracranial aneurysms are not part of this brain vascular malformation spectrum. The aim of this study was to determine their prevalence in patients with hereditary hemorrhagic telangiectasia. Read More

Radiol Case Rep 2022 Jul 6;17(7):2353-2361. Epub 2022 May 6.

Department of Radiology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam.

Pulmonary arteriovenous malformation, also known as an arteriovenous fistula, is typically a congenital disease caused by structural deficiencies, particularly the lack of capillary wall development, leading to the abnormal dilation of the pulmonary capillaries. The majority of pulmonary arteriovenous malformation cases are associated with Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia. Pulmonary arteriovenous malformation rarely occurs due to chest trauma. Read More

J Clin Med 2022 May 7;11(9). Epub 2022 May 7.

Sf. Spiridon Emergency Hospital, 700111 Iași, Romania.

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant vascular disease defined by the presence of mucosal and cutaneous telangiectasia and visceral arterio-venous malformations. The latter are abnormal capillary-free direct communications between the pulmonary and systemic circulations with the following consequences: arterial hypoxemia caused by right-to-left shunts; paradoxical embolism with transient ischemic attack or stroke and brain abscess caused by the absence of the normally filtering capillary bed; and hemoptysis or hemothorax due to the rupture of the thin-walled arterio-venous malformations (particularly during pregnancy). It is frequently underdiagnosed, commonly presenting as complications from shunting through arterio-venous malformations: dyspnea, chronic bleeding, or embolism. Read More

Int Forum Allergy Rhinol 2022 May 6. Epub 2022 May 6.

Department of Head and Neck Surgery, University Hospital of Poitiers, Poitiers, France.

Cardiovasc Revasc Med 2022 Apr 30. Epub 2022 Apr 30.

Cardiology Department, Cardiovascular Institute (ICCV), Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain.. Electronic address:

Background/purpose: Hereditary haemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu Syndrome) is an inherited vascular disorder, associated with arteriovenous malformations and bleeding events. Despite potential benefits, data regarding the use of left atrial appendage occlusion (LAAO) in HHT patients with non-valvular atrial fibrillation (NVAF) is scarce. The aim of the present paper was to assess the outcomes of HHT patients undergoing LAAO. Read More

Respir Res 2022 Apr 30;23(1):107. Epub 2022 Apr 30.

Department of Radiology, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, No. 507 Zhengmin Road, Shanghai, 200433, China.

Background: Pulmonary arteriovenous malformations (PAVMs) are rare but cause various manifestations. Although the diameter of feeding arteries has been linked to treatment decisions, relationships among the characteristics of PAVMs, clinical symptoms, and treatment effect remain unclear. The present study was performed to investigate how collective characteristics of PAVMs relate to clinical symptoms and to provide proper treatment recommendations for patients with PAVMs. Read More

Gastroenterology 2022 Jun 26;162(7):2063-2085. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Gastrointest Endosc 2022 Jun 26;95(6):1025-1047. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Neuroradiol J 2022 Apr 28:19714009221096829. Epub 2022 Apr 28.

Department of Neurosurgery, 26807Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.

Background: Pial arteriovenous fistula (AVF) is a vascular fistulous disease in which the cerebral pial artery and vein are directly connected without the intervening nidus within a sub-pial space. Multi-hole pial AVFs, wherein multiple feeders flow into one drainer, are usually formed with complex angioarchitecture and are difficult to treat.

Methods: A rare case of an adult patient with hereditary hemorrhagic telangiectasia and multi-hole pial AVF was described. Read More

Cureus 2022 Mar 22;14(3):e23389. Epub 2022 Mar 22.

Gastroenterology, Upstate University Hospital, Syracuse, USA.

There is a wide differential diagnosis within polyposis syndromes. Our case represents an interesting and diagnostically challenging diagnosis involving a 41-year-old male who presented with an incidental gastric mass on imaging and a colonic mass seen on colonoscopy. Following multiple endoscopic evaluations, histological analysis, and genetic testing, the patient was ultimately diagnosed with juvenile polyposis syndrome (JPS)/hereditary hemorrhagic telangiectasia (HHT) despite the initial suspicion for Ménétrier's disease. Read More

Am J Gastroenterol 2022 06 26;117(6):846-864. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont, USA.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Zhonghua Gan Zang Bing Za Zhi 2022 Mar;30(3):323-325

Department of Gastroenterology & Hepatology, Sichuan University-Oxford University Huaxi Gastrointestinal Cancer Centre, West China Hospital, Sichuan University, Chengdu 610041, China.

Genes (Basel) 2022 04 9;13(4). Epub 2022 Apr 9.

Institute of Medical Science, Cardiovascular Sciences Specialization Program, University of Toronto, Toronto, ON M5S 1A8, Canada.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant genetic disorder characterized by life-threatening vascular dysplasia. Myeloid angiogenic cells (MACs), alternatively called early endothelial progenitor cells or circulating angiogenic cells, do not directly incorporate into developing blood vessels, but augment angiogenesis in a paracrine manner. MAC dysfunction has been reported in HHT. Read More

J Clin Med 2022 Apr 13;11(8). Epub 2022 Apr 13.

Department of Otorhinolaryngology, Regensburg University Medical Center, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.

Appropriate management of hereditary hemorrhagic telangiectasia (HHT) is of particular importance in females, as HHT-mediated modifications of the vascular bed and circulation are known to increase the risk of complications during pregnancy and delivery. This study was undertaken to evaluate female HHT patients' awareness of and experience with HHT during pregnancy and delivery, with a focus on epistaxis. In this retrospective study, 46 females (median age: 60 years) with confirmed HHT completed a 17-item questionnaire assessing knowledge of HHT and its pregnancy-associated complications, the severity of epistaxis during past pregnancies and deliveries, and the desire for better education and counselling regarding HHT and pregnancy. Read More

J Thromb Haemost 2022 05;20(5):1067-1069

Division of Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA.

Pediatr Emerg Care 2022 Apr 19. Epub 2022 Apr 19.

Abstract: Point of care ultrasound (POCUS) can be useful in the differentiation between cardiac and pulmonary etiologies of hypoxia. Here, we present a child with signs of chronic hypoxia, found on POCUS to have multiple pulmonary arteriovenous malformations. A combination of POCUS and history supported a presumptive pediatric emergency department diagnosis of hereditary hemorrhagic telangiectasia. Read More

HNO 2022 May 14;70(5):380-388. Epub 2022 Apr 14.

VASCERN HHT Reference Centre, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg, Philipps-Universität Marburg, Marburg, Deutschland.

Background: A multitude of vascular anomalies exist and can lead to severe complications. Treatment can be complex.

Objective: This overview aims to provide important information for the management of vascular anomalies. Read More

Sci Rep 2022 04 7;12(1):5877. Epub 2022 Apr 7.

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45122, Essen, Germany.

Patients with hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, suffer from the consequences of abnormal vessel structures. These structures can lead to haemorrhages or shunt effects in liver, lungs and brain. This inherited and rare disease is characterized by mutations affecting the transforming growth factor-β (TGF-β)/Bone Morphogenetic Protein (BMP) pathway that results in arteriovenous malformations and studies indicate an impaired immune response. Read More