HNO 2018 Apr 23. Epub 2018 Apr 23.

Klinik und Poliklinik für Hals‑, Nasen- und Ohrenheilkunde, Universitätsklinikum Regensburg, 93053, Regensburg, Deutschland.

Osler's disease is an autosomal dominant hereditary syndrome which belongs to the group of orphan diseases. Affected patients suffer primarily from severe epistaxis. Diagnosis is based on the Curaçao criteria and molecular genetic tests. Read More

GE Port J Gastroenterol 2018 Mar 5;25(2):91-95. Epub 2017 Oct 5.

Gastroenterology Department, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Read More

Ann Hematol 2018 Apr 14. Epub 2018 Apr 14.

Division of Hematology and Oncology, Medical College of Wisconsin, Milwaukee, WI, USA.

J Pediatr 2018 Apr 11. Epub 2018 Apr 11.

Division of Hematology Oncology, University of North Carolina School of Medicine, Chapel Hill, NC.

Objective: To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents.

Study Design: This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical Curaçao criteria were compared. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):197-201

Department of Occupational Medicine and Toxicology, Beijing Institute of Respiratory Medicine, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing 100020, China.

Objective: To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT).

Methods: High throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes.

Results: A pathogenic heterozygous c. Read More

Adv Hematol 2018 11;2018:4798425. Epub 2018 Feb 11.

Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Scottsdale, AZ, USA.

Background: There is little published literature regarding the impact of age on outcomes amongst hospitalized HHT (hereditary hemorrhagic telangiectasia) patients.

Methods: The Nationwide Inpatient Sample (NIS) was used to obtain data on all hospital discharges occurring in HHT patients from 2000 to 2012. The association between admission age and HHT-related complications and outcomes were studied. Read More

Oxf Med Case Reports 2018 Mar 22;2018(3):omx108. Epub 2018 Mar 22.

Department of Pulmonary and Critical Care, San Juan City Hospital, San Juan, PR.

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Read More

Stroke 2018 May 28;49(5):1232-1240. Epub 2018 Mar 28.

From the Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care (W.Z., W.C., D.Z., L.W., C.B., L.Z., D.S., S.W., Z.L., M.Z., F.S., S.S., H.S.)

Background And Purpose: Brain arteriovenous malformation (bAVM) is an important risk factor for intracranial hemorrhage. Current treatments for bAVM are all associated with considerable risks. There is no safe method to prevent bAVM hemorrhage. Read More

Acta Med Port 2018 Jan 31;31(1):63-66. Epub 2018 Jan 31.

Departamento de Otorrinolaringologia. Hospital de Egas Moniz. Centro Hospitalar Lisboa Ocidental. Lisboa. Nova Medical School. Universidade Nova de Lisboa. Lisboa. Portugal.

Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. Read More

Radiol Case Rep 2018 Feb 6;13(1):51-54. Epub 2017 Nov 6.

Radiology Department, Centro Hospitalar São João, Porto, Portugal.

Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous). Read More

Biomark Med 2018 Apr 14;12(4):365-371. Epub 2018 Mar 14.

Divisions of Cardiovascular Medicine and Pediatric Cardiology, University of Utah, Salt Lake City, UT 84132, USA.

Aim: To explore the association between vitamin D levels and mild versus severe epistaxis, as well as the overall epistaxis severity score (ESS) in patients with hereditary hemorrhagic telangiectasia.

Patients & Methods: A retrospective chart review of 198 patients was performed to explore the relationship between vitamin D levels and the ESS. Vitamin D levels were also compared with those with mild epistaxis to those with severe epistaxis. Read More

JAAD Case Rep 2018 Apr 21;4(3):217-219. Epub 2018 Feb 21.

Division of Dermatology, University of Kansas Medical Center, Kansas City, Kansas.

Case Rep Gastroenterol 2018 Jan-Apr;12(1):13-18. Epub 2018 Jan 17.

bDepartment of Radiology, Ghent University Hospital, Ghent, Belgium.

We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement. Read More

J Clin Neurosci 2018 May 23;51:22-28. Epub 2018 Feb 23.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah School of Medicine, Salt Lake City, UT, United States; University of Utah Hereditary Hemorrhagic Telangiectasia Center of Excellence, Salt Lake City, UT, United States. Electronic address:

Hereditary hemorrhagic telangiectasia (HHT) is characterized by recurrent spontaneous epistaxis, mucocutaneous telangiectases, and multisystem arteriovenous malformations (AVMs). Brain AVMs typically present at birth and are identified in approximately 10-20% of patients with HHT. A retrospective review was undertaken of all HHT patients with known single or multiple brain AVMs treated at our institution. Read More

Pulm Circ 2018 Apr-Jun;8(2):2045894018759918. Epub 2018 Feb 26.

State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Pulmonary arterial hypertension (PAH) is a severe complication of hereditary hemorrhagic telangiectasia (HHT); however, little is known about its clinical characteristics and prognosis. Nine newly diagnosed HHT-PAH patients were prospectively recruited between October 2007 and January 2016 and were followed up every half-year. Eighteen idiopathic pulmonary arterial hypertension (IPAH) patients, matched with HHT-PAH patients on mean pulmonary arterial pressure, pulmonary capillary wedge pressure, pulmonary vascular resistance, cardiac index, and World Health Organization (WHO) functional class (FC), were recruited. Read More

Curr Opin Pulm Med 2018 May;24(3):260-268

Department of Pulmonology, St. Antonius Hospital, Nieuwegein, The Netherlands.

Purpose Of Review: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by telangiectasia and arteriovenous malformations (AVMs). To date, five genetic types of HHT and one combined juvenile polyposis syndrome and HHT are known. Clinical and genetic screening of patients suspected with HHT is recommended to confirm the diagnosis and to prevent complications associated with HHT. Read More

Laryngoscope 2018 Feb 22. Epub 2018 Feb 22.

Department of Otorhinolaryngology-Head and Neck Surgery.

Objectives/hypothesis: Long-term follow-up of intranasal bevacizumab therapy in hereditary hemorrhagic telangiectasia (HHT).

Study Design: Prospective, noncomparative study.

Methods: Patients treated for HHT-associated epistaxis by intranasal submucosal bevacizumab injections between June 2011 and August 2013 were included and followed prospectively. Read More

Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.

Department of Dermatology, Dermatologist MD PhD, Complejo Hospitalario de Granada, Granada, Spain.

Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus erythematous. Read More

Angiogenesis 2018 May 19;21(2):363-380. Epub 2018 Feb 19.

Cell and Molecular Biology Department, Tulane University, New Orleans, LA, 70118, USA.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that leads to abnormal connections between arteries and veins termed arteriovenous malformations (AVM). Mutations in TGFβ pathway members ALK1, ENG and SMAD4 lead to HHT. However, a Smad4 mouse model of HHT does not currently exist. Read More

Abdom Radiol (NY) 2018 Feb 19. Epub 2018 Feb 19.

Université Paris Diderot, Sorbonne Paris Cité, INSERM CRI, 75018, Paris, France.

A variety of vascular liver disorders can induce hepatocellular tumors. They may be related to portal venous deprivation, venous outflow obstruction, or arterial diseases. Their common feature is an imbalance between hepatic arterial and portal venous blood flow leading to an increased hepatic arterial inflow. Read More

Laryngoscope 2018 Feb 16. Epub 2018 Feb 16.

Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, U.S.A.

Hereditary hemorrhagic telangiectasia (HHT) most commonly manifests with nasal mucosal telangiectasias, and vascular endothelial growth factor (VEGF) plays a significant role in this angiodysplasia. We describe a patient with HHT with epistaxis recalcitrant to several endonasal procedures and six cycles of intravenous bevacizumab, for which he was dependent on iron infusions and packed red blood cells transfusions. He then started pazopanib at 100 mg with dramatic improvements in epistaxis and normalization of hemoglobin and iron levels, without replenishment needs for 12 months. Read More

Arterioscler Thromb Vasc Biol 2018 Feb 15. Epub 2018 Feb 15.

From the Program Against Cancer Therapeutic Resistance, Institut Català d'Oncologia, Hospital Duran i Reynals (E.A.-S., Y.G.-I., A.M.F., C.R.-D., A.F., O.C., M.A.P., M.G., F.V.) and Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (M.G.), L'Hospitalet de Llobregat, Barcelona, Spain; Institut d'Investigació Biomèdica de Bellvitge, Spain (E.A.-S., Y.G.-I., A.M.F., C.R.-D., A.F., X.M.-G., O.C., M.A.P., F.V.); Servei d'Anatomia Patològica (X.M.-G.) and HHT Unit, Internal Medicine Department (A.R.-M.), Institut d'Investigació Biomèdica de Bellvitge, Hospital Universitari de Bellvitge, Spain; Hospital Universitari Arnau de Vilanova, Lleida, Spain (X.M.-G.); Universitat de Lleida, Spain (X.M.-G.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid, Spain (L.M.B.); Departament de Ciències Clíniques, Universitat de Barcelona, Spain (A.R.-M.); CIBERONC (M.G.); and Departament de Ciències Fisiològiques, Campus de Bellvitge, L'Hospitalet de Llobregat, Universitat de Barcelona, Spain (F.V.).

Objective: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia. Read More

Curr Opin Hematol 2018 May;25(3):237-244

Max Planck Institute for Molecular Biomedicine.

Purpose Of Review: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFβ)-superfamily signaling pathway, are responsible for the human vascular disorder hereditary hemorrhagic telangiectasia (HHT) type 1, characterized in part by blood vessel enlargement. A growing body of work has uncovered an autonomous role for Eng in endothelial cells. We will highlight the influence of Eng on distinct cellular behaviors, such as migration and shape control, which are ultimately important for the assignment of proper blood vessel diameters. Read More

J Clin Neurosci 2018 Apr 3;50:51-57. Epub 2018 Feb 3.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah School of Medicine, Salt Lake City, UT, United States. Electronic address:

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that causes angiodysplasia and results in mucocutaneous telangiectasias and arteriovenous malformations of organs. Although central nervous system vascular malformations can occur anywhere along the neuraxis, spinal vascular malformations are rare. We present our experience with the presentation and management of spinal vascular malformations in patients with HHT. Read More

Mayo Clin Proc 2018 Feb 24;93(2):155-166. Epub 2018 Jan 24.

Division of Pulmonary Medicine, Mayo Clinic, Scottsdale, AZ.

Objective: To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT).

Patients And Methods: All patients treated with intravenous bevacizumab for severe hereditary hemorrhagic telangiectasia-related bleeding from June 1, 2013, through January 31, 2017, were included in this report. Severity of epistaxis (determined using the Epistaxis Severity Score questionnaire); hemoglobin, iron, and ferritin levels; and quality of life data were collected serially in all patients. Read More

Mayo Clin Proc 2018 Feb 24;93(2):130-132. Epub 2018 Jan 24.

Augusta University, Augusta, GA. Electronic address:

Int Forum Allergy Rhinol 2018 Feb 2. Epub 2018 Feb 2.

Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern, Dallas, TX.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder resulting in vascular dysplasia and formation of arteriovenous malformations. Recurrent epistaxis is a hallmark of the disease. An array of medical therapies are used in this patient population, but robust evidence-based recommendations regarding the medical treatment of epistaxis are lacking. Read More

BMC Infect Dis 2018 02 1;18(1):65. Epub 2018 Feb 1.

National Institute for Infectious Diseases "Lazzaro Spallanzani" IRCCS, Rome, Italy.

Background: In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their potential pathogenic role in patients with particular predisposing factors. Patients with hereditary hemorrhagic telangiectasia (HHT) are exposed to infections because of telangiectasias and arteriovenous malformations (AVMs). Read More

J Neurosurg Pediatr 2018 Apr 19;21(4):367-374. Epub 2018 Jan 19.

Department of Neurosurgery.

Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics. A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Read More

J Vasc Surg Cases Innov Tech 2017 Jun 25;3(2):57-59. Epub 2017 Apr 25.

Department of Cardiovascular Surgery, Tokyo Bay Urayasu Ichikawa Medical Center, Chiba, Japan.

Celiac artery (CA) coverage during thoracic endovascular aortic repair has been demonstrated to be a feasible and effective strategy for selected cases. However, there is a potential risk of ischemic complications due to CA coverage in patients with certain types of hereditary hemorrhagic telangiectasia (HHT). Herein, we report a case of thoracoabdominal aortic rupture in a patient with HHT that was successfully treated with emergency thoracic endovascular aortic repair covering the CA preceded by hepatic artery bypass. Read More

Sci Signal 2018 Jan 16;11(513). Epub 2018 Jan 16.

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

The transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including hereditary hemorrhagic telangiectasia (HHT). Drosha, a key enzyme for microRNA (miRNA) biogenesis, also regulates the TGF-β and BMP pathway through interaction with Smads and their joint control of gene expression through miRNAs. Read More

Gene 2018 Mar 4;647:85-92. Epub 2018 Jan 4.

Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or ACVRL1, which code for ENDOGLIN and Activin A Receptor Type II-Like Kinase 1 (ALK1), belonging to the TGF-β/BMP signalling pathway. Typical HHT clinical features are mucocutaneous telangiectases, arteriovenous malformations, spontaneous and recurrent epistaxis, as well as gastrointestinal bleedings. Read More

Neurosurgery 2018 Feb;82(2):253

J Pediatr 2018 Apr 20;195:288-291.e1. Epub 2017 Dec 20.

University of Toronto, Toronto, Ontario, Canada; Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Translational Medicine, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

Transthoracic contrast echocardiography (TTCE) has high sensitivity but low specificity in screening for pulmonary arteriovenous malformations (pAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). Here we describe characteristics of TTCE that might be used to reduce the need for confirmatory computed tomography scans in children with HHT. Read More

Am J Med 2018 Apr 18;131(4):380-383. Epub 2017 Dec 18.

Department of General Internal Medicine, Shonan Kamakura General Hospital, Kamakura, Japan.

PLoS One 2017 18;12(12):e0189805. Epub 2017 Dec 18.

Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, the Netherlands.

Aims: Hereditary Hemorrhagic Telangiectasia type-1 (HHT1) is a genetic vascular disorder caused by haploinsufficiency of the TGFβ co-receptor endoglin. Dysfunctional homing of HHT1 mononuclear cells (MNCs) towards the infarcted myocardium hampers cardiac recovery. HHT1-MNCs have elevated expression of dipeptidyl peptidase-4 (DPP4/CD26), which inhibits recruitment of CXCR4-expressing MNCs by inactivation of stromal cell-derived factor 1 (SDF1). Read More

Mol Genet Genomic Med 2018 Jan 14;6(1):121-125. Epub 2017 Dec 14.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Read More

Otolaryngol Clin North Am 2018 Feb;51(1):237-254

University of Regensburg, Franz-Josef-Strauss-Allee 11, D-93053 Regensburg, Germany.

Hereditary hemorrhagic telangiectasia (HHT) describes the presenting manifestations of a disorder that is characterized by pathologic blood vessels. HHT is inherited as an autosomal dominant trait with variable penetrance. The abnormal vascular structures (dysplasias) can affect all the organs in the human body. Read More

Transfusion 2018 Mar 6;58(3):775-780. Epub 2017 Dec 6.

Department of Laboratory Medicine, Yale University School of Medicine, New Haven, Connecticut.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder associated with multiple arteriovenous malformations. HHT patients may require red blood cell (RBC) transfusion due to spontaneous hemorrhage or surgical bleeding. Because HHT-associated hemorrhage often occurs in submucosa we hypothesized that RBC alloimmunization rates in HHT patients may be higher than those observed in other transfused patients and investigated this in a retrospective study. Read More

PLoS One 2017 30;12(11):e0188943. Epub 2017 Nov 30.

Médecine Interne - Maladies Multi-Organiques, Hôpital Saint Eloi, Montpellier, France.

Background: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France. Read More

Laryngoscope 2017 Nov 24. Epub 2017 Nov 24.

Division of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, U.S.A.

Objectives/hypothesis: Our objective was to describe epistaxis onset and severity in pediatric hereditary hemorrhagic telangiectasia (HHT) patients and study the cumulative incidence of epistaxis by age of onset within each genetic subtype.

Study Design: Retrospective cohort chart review.

Methods: Charts were reviewed of patients age 0 to 18 years with a clinical or genetic diagnosis of HHT who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016. Read More

Rev Med Chil 2017 Jun;145(6):799-803

Departamento de Cirugía Digestiva, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Rhinology 2018 Mar;56(1):3-10

Department of ENT, Monash Health, Melbourne, Victoria, Australia and Department of Surgery, Monash Health, Melbourne, Victoria, Australia.

Background: Hereditary haemorrhagic telangiectasia (HHT) remains a difficult disease for the ENT specialist to manage. Affected patients often report recurrent epistaxis as the most debilitating symptom. The pathogenesis of the disease is due to genetic mutations affecting angiogenesis. Read More

Case Rep Pulmonol 2017 12;2017:8274981. Epub 2017 Oct 12.

Department of Pulmonary Medicine, South Miami Hospital, Baptist Health, South Miami, FL, USA.

Hereditary hemorrhagic telangiectasia is a rare autosomal-dominant condition affecting visceral blood vessel development. Cerebral and most commonly pulmonary arteriovenous malformations are found in the majority of symptomatic patients. The most common complications include embolic strokes and cerebral abscesses, which have been attributed to abnormal vessel communications. Read More

Angiogenesis 2018 Feb;21(1):169-181

Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands.

Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. Read More

Int J Angiol 2017 Dec 18;26(4):205-211. Epub 2017 Sep 18.

Division of Cardiothoracic Surgery, University of Kentucky College of Medicine, Lexington, Kentucky.

Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Read More

Am J Respir Crit Care Med 2017 11;196(10):1244-1246

2 Division of Pulmonary and Critical Care Medicine Northwestern University Feinberg School of Medicine Chicago, Illinois.

Rev Esp Cardiol (Engl Ed) 2017 Nov 10. Epub 2017 Nov 10.

Department of Cardiovascular Medicine, University Hospitals Leuven, Leuven, Belgium.

Pediatr Dermatol 2018 Jan 9;35(1):e9-e12. Epub 2017 Nov 9.

Department of Dermatology, University of Virginia Health System, Charlottesville, VA, USA.

We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis. Read More