J Clin Oncol 2012 Oct;30(30_suppl):30

Acceleron Pharma, Cambridge, MA.

30 Background: Activin receptor-like kinase 1 (ALK1) is a type 1 receptor in the TGF-β superfamily. The ALK1 pathway plays a role in vascular development and pathological angiogenesis. Mutations affecting this pathway result in hereditary hemorrhagic telangiectasia, a disease characterized by failed vascular development and arteriovenous malformations. Read More

S D Med 2017 Feb;70(2):57-59

Department of Cardiology, University of South Dakota Sanford School of Medicine.

Objective: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes.

Background: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. Read More

Biomed Rep 2017 Sep 25;7(3):214-220. Epub 2017 Jul 25.

Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.

Spinal cord perimedullary arteriovenous fistulas (PMAVFs) are rare and belong to type IV spinal cord arteriovenous malformations (AVMs). Little is known regarding the treatment and prognosis of spinal cord PMAVFs. In the present study the relevant literature from PubMed was reviewed, and it was found that these fistulas can occur at all ages but are more common in children. Read More

Expert Opin Ther Targets 2017 Aug 10. Epub 2017 Aug 10.

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

Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level. Read More

Circ J 2017 Aug 10. Epub 2017 Aug 10.

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center.

Rev Med Interne 2017 Aug 2. Epub 2017 Aug 2.

Service de médecine interne, hôpital Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.

Am J Hematol 2017 Aug 4. Epub 2017 Aug 4.

University Clinic for Oncology and Haematology, Klinikum Oldenburg, Germany.

AJNR Am J Neuroradiol 2017 Aug 3. Epub 2017 Aug 3.

From the Departments of Radiology (A.P., B.S.P., D.R.A., C.P.W., W.B.) and Pulmonary and Critical Care Medicine (V.N.I.), Mayo Clinic, Rochester, Minnesota.

Background And Purpose: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations.

Materials And Methods: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017. Read More

R I Med J (2013) 2017 Aug 1;100(8):29-31. Epub 2017 Aug 1.

Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114.

t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH. Read More

Bosn J Basic Med Sci 2017 Jul 31. Epub 2017 Jul 31.

Functional and Laboratory Diagnostics Department, I. Horbachevsky Ternopil State Medical University, Ternopil, Ukraine.

Hepatopulmonary syndrome (HPS) is a severe complication of advanced liver disease associated with an extremely poor prognosis. HPS is diagnosed in 4-47% of patients with cirrhosis and in 15-20% of candidates for liver transplantation. In addition, severe hypoxia is associated with a high risk of complications of liver transplantation (a 30% chance during the first 90 days) and increases the gap between transplantation and improving arterial oxygenation. Read More

Cerebrovasc Dis 2017 Jul 27;44(3-4):179-185. Epub 2017 Jul 27.

Department of Radiology, Mayo Clinic, Rochester, MN, USA.

Background And Purpose: There is a high prevalence of right-to-left shunting pulmonary arteriovenous malformations (PAVMs), which are stroke risk factors, in hereditary hemorrhagic telangiectasia (HHT) patients. While the prevalence of ischemic complications in HHT patients is known, the prevalence of silent brain infarcts (SBI) remains unknown. The purpose of this study was to determine the prevalence and risk factors for SBI in HHT patients. Read More

Respiration 2017 Jul 26. Epub 2017 Jul 26.

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

Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. Read More

Chest 2017 Jul 14. Epub 2017 Jul 14.

Division of Pulmonary, Critical Care, and Sleep Medicine, The Johns Hopkins Hospital, Baltimore, MD; MedStar Health, Baltimore, MD.

Background: Massive pulmonary emboli can cause an abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast, the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of symptoms of pulmonary infarction is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. Read More

Radiographics 2017 Jul-Aug;37(4):1270-1289

From the Department of Radiology, Mayo Clinic Arizona, Phoenix, Ariz (R.S.P., C.O.M.); Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (C.J.N., C.A.R., V.M.M., S.B.); Department of Radiology, NYU Winthrop Hospital, Mineola, NY (D.S.K.); Stony Brook University School of Medicine, Stony Brook, NY (D.S.K.); and Neuroradiology Section, Department of Radiology, Phoenix Children's Hospital, Phoenix, Ariz (P.C.).

Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications. Because radiologists often play an important role in evaluation of the pregnant patient, understanding the pathophysiology of vascular-related complications in pregnancy and their imaging appearances is essential for diagnostic accuracy. Read More

Anat Rec (Hoboken) 2017 Jul 11. Epub 2017 Jul 11.

Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York.

Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Read More

Circulation 2017 Jul 7. Epub 2017 Jul 7.

Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium & Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc & Université Catholique de Louvain, Brussels, Belgium

Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Read More

Laryngoscope 2017 Jul 3. Epub 2017 Jul 3.

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

Intranasal bevacizumab injections have been used in treating hereditary hemorrhagic telangiectasia (HHT)-related epistaxis since 2009. It is believed to be a safe and effective treatment for a selected group of HHT patients in reducing frequency and intensity of epistaxis, with few or none adverse effects. In this case report, however, we will describe a patient who developed bilateral osteonecrosis in the knees while undergoing regular intranasal submucosal bevacizumab injections. Read More

Endosc Int Open 2017 Jul 23;5(7):E547-E558. Epub 2017 Jun 23.

Department of Diagnostic Pathology I, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

Background And Study Aims:  Probe-based confocal laser endomicroscopy (pCLE) enables real-time optical biopsy. Little is known about pCLE imaging deep inside the small bowel, therefore the aim of this study was to determine its usefulness.

Patients And Methods:  Between April 2014 and January 2016, we performed 38 pCLE examinations during double-balloon enteroscopy with intravenous fluorescein in 37 patients with: tumors (n = 10), vascular disorders (n = 6), inflammatory diseases and drug injuries (n = 13), other disorders (n = 4), and normal findings (n = 4). Read More

Am J Hematol 2017 Jun 22. Epub 2017 Jun 22.

Brain Vascular Malformation Consortium HHT Investigator Group.

Ochsner J 2017 ;17(2):157-161

Department of Otolaryngology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT. Read More

Ear Nose Throat J 2017 Jun;96(6):E33-E36

Department of Otolaryngology, Northwestern University, 675 N. St. Clair, Galter Pavilion 15th Floor, Room 200, Chicago, IL 60614.

Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed. Read More

Case Rep Gastroenterol 2017 May-Aug;11(2):293-304. Epub 2017 May 17.

Department of Medicine, Brookwood Medical Center, Birmingham, Alabama, USA.

Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. Read More

Dig Liver Dis 2017 May 25. Epub 2017 May 25.

Endoscopy Unit, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy. Electronic address:

This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www. Read More

J Craniomaxillofac Surg 2017 Aug 24;45(8):1179-1182. Epub 2017 May 24.

Department of Otorhinolaryngology, (Head: Prof. B. Schick, MD), University Medical Centre Homburg/Saar, Kirrberg Straße, 66421, Homburg/Saar, Germany.

Hereditary hemorrhagic telangiectasia (HHT) is a mutilating disease associated with the majority of patients with recurrent epistaxis episodes. The aim of this study was to present a single institution experience with patients treated for nasal epistaxis using a combination of Nd:YAG laser and argon plasma coagulation (APC) vs Nd:YAG laser alone, with a minimum follow-up of 3 years. 45 patients (21 men, 24 women) aged from 15 to 84 years with the diagnosis of HHT were treated in the Department of Otolaryngology, Head and Neck Surgery in Homburg/Saar between 10/2002 and 10/2012 because of epistaxis, using a combination of Nd:YAG laser and APC or Nd:YAG laser alone. Read More

Pediatr Pulmonol 2017 Sep 13;52(9):1194-1197. Epub 2017 Jun 13.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

Background: Children with Hereditary Hemorrhagic Telangiectasia (HHT) may have pulmonary arteriovenous malformations (AVMs), which can lead to symptoms of shortness of breath, exercise intolerance, clubbing, cyanosis and hemoptysis. However, some patients with pulmonary AVMs may be asymptomatic, placing them at risk for complications such as stroke or brain abscess if they are not identified and treated. This study examines the incidence of signs and symptoms associated with pulmonary AVMs in children with HHT known to have pulmonary AVMs. Read More

Int J Womens Health 2017 26;9:373-378. Epub 2017 May 26.

Department of Dermatology, University of California San Diego, La Jolla, CA, USA.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Read More

Nihon Ronen Igakkai Zasshi 2017 ;54(2):179-185

Department of Geriatric Medicine, Kyorin Medical University.

An 86-year-old male who was able to perform all activities of daily living (ADL) was diagnosed with hereditary hemorrhagic telangiectasia (HHT) at 70 years of age. Following his diagnosis, he had been receiving treatment at our hospital. After the sudden onset of a consciousness disorder, he was admitted to our hospital's emergency department with asterixis, a high serum ammonia level, and hepatic encephalopathy. Read More

Clin Case Rep 2017 Jun 13;5(6):805-808. Epub 2017 Apr 13.

Department of OtorhinolaryngologyOdense University HospitalSdr. Boulevard 29DK-5000Odense CDenmark.

In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case shows the benefit of familial screening for HHT and PAVM. Read More

Eur J Clin Microbiol Infect Dis 2017 Jun 3. Epub 2017 Jun 3.

Department of Neurosurgery, Odense University Hospital, 5000, Odense, Denmark.

It is well described that patients with pulmonary arteriovenous malformations (PAVMs) and Hereditary Hemorrhagic Telangiectasia (HHT) have an increased risk of cerebral abscess (CA). However, as both CA and HHT are rare, the proportion of patients with CA who are diagnosed with HHT has not been previously described. A retrospective study was carried out of all patients treated surgically for CA between January 1995 and September 2014 at the Department of Neurosurgery, Odense University Hospital. Read More

Int J Angiol 2017 Jun 2;26(2):125-129. Epub 2016 Jun 2.

Division of Cardiology, Loma Linda University Medical Center, Loma Linda, California.

High-output cardiac failure is a rare complication of hereditary hemorrhagic telangiectasia and can potentially be mistaken for other entities. We present a case of high-output cardiac failure because of large hepatic arteriovenous malformations, review the literature regarding the cardiac manifestations of the disease, and discuss the possible differential diagnoses. Read More

Cell Rep 2017 May;19(9):1917-1928

Department of Biosciences and Nutrition and Center for Innovative Medicine, Karolinska Institutet, Huddinge 14183, Sweden. Electronic address:

Endoglin (ENG)/CD105 is an essential endothelial cell co-receptor of the transforming growth factor β (TGF-β) superfamily, mutated in hereditary hemorrhagic telangiectasia type 1 (HHT1) and involved in tumor angiogenesis and preeclampsia. Here, we present crystal structures of the ectodomain of human ENG and its complex with the ligand bone morphogenetic protein 9 (BMP9). BMP9 interacts with a hydrophobic surface of the N-terminal orphan domain of ENG, which adopts a new duplicated fold generated by circular permutation. Read More

Liver Int 2017 Jun;37(6):928

Gastroenterology and Endoscopy Department, Reference Center for Hereditary Hemorrhagic Telangiectasia, Maggiore Hospital, ASST Crema, Crema, Italy.

J Neurosurg Pediatr 2017 Aug 19;20(2):164-169. Epub 2017 May 19.

Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee.

The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Read More

Orphanet J Rare Dis 2017 May 18;12(1):92. Epub 2017 May 18.

Internal Medicine Department. Hospital Italiano de Buenos Aires. Argentina (HIBA), Presidente Perón 4190, Cuidad Autónoma de Buenos Aires, C1199ABB, Argentina.

Background: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved. Read More

Curr Cardiol Rev 2017 ;13(3):244-250

Congenital Heart Center, Helen DeVos Children's Hospital, 100 Michigan NE (MC248), Grand Rapids, MI 49503, United States.

Background: The "hepatic factor," a molecule or group of molecules present in the hepatic venous blood, essential for the prevention of the development of pulmonary arteriovenous malformations (PAVMs) and right-to-left shunting has been a conceptual enigma in the understanding of many related conditions.

Methods: Patients with various forms of liver diseases including acute hepatic failure, and others with normal hepatic function like hereditary hemorrhagic telangiectasia (HHT), inflammatory and parasitic disorders, cardiogenic hepatopulmonary syndrome (cHPS) and skin disorders like Dyskeratosis congenita are all known to cause PAVMs. Over a period of the last two decades our understanding of the pathogenesis of PAVMs has changed, but the mechanisms are still not clearly understood. Read More

Am J Rhinol Allergy 2017 May;31(3):205-206

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that leads to frequent epistaxis. It can have a significant impact on quality of life. Many reports exist regarding various therapies to address the epistaxis. Read More

J Matern Fetal Neonatal Med 2017 Jun 13:1-9. Epub 2017 Jun 13.

a I.M. Sechenov First Moscow State Medical University of the Public Health Ministry of the Russian Federation , Moscow , Russia.

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. Read More

Ann Vasc Surg 2017 Apr 29. Epub 2017 Apr 29.

Servicio de Angiología y Curugía Vascular, Hospital Virgen de la Salud de Toledo, Nambroca, Toledo, Spain.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease consistent in vascular dysplasias affecting different organs. Liver involvement includes telangiectases, arteriovenous shunting, and ischemic cholangitis, and its prevalence ranges from 8% to 31%. Spontaneous pseudoaneurysms have never been reported associated to HHT. Read More

Clin Infect Dis 2017 Apr 19. Epub 2017 Apr 19.

NHLI Cardiovascular Sciences and.

Background: Cerebral abscess is a recognised complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored.

Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with CT-scan confirmed PAVMs (including 403 (90. Read More

Radiographics 2017 May-Jun;37(3):813-836. Epub 2017 Apr 21.

From the Department of Diagnostic Radiology, University of Texas MD Anderson Cancer Center, 1400 Pressler St, Houston, TX 77030 (K.M.E., S.J.); Department of Radiology and Imaging Sciences, University of Utah, Salt Lake City, Utah (A.M.S.); Department of Diagnostic and Interventional Imaging, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Tex (S.M.R.); Department of Diagnostic Radiology, University of Miami Health System, Miami, Fla (B.L.M., R.P.C., V.J.C.); and Department of Diagnostic Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.).

The liver has a complex vascular supply, which involves the inflow of oxygenated blood through the hepatic artery (systemic circulation) and deoxygenated blood through the portal vein (portal circulation), as well as the outflow of deoxygenated blood through the hepatic veins to the inferior vena cava. A spectrum of vascular variants can involve the liver. Some of these variants may result in areas of enhancement that can mimic more serious pathologic conditions. Read More

HPB (Oxford) 2017 Jul 17;19(7):567-572. Epub 2017 Apr 17.

Hepato-Pancreato-Biliary Surgery and Liver Transplantation, Pôle des Pathologies Digestives, Hépatiques et de la Transplantation, Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.

Aim: To evaluate the indications, timing and results of liver transplantation in patients affected by hereditary hemorrhagic telangiectasia (HHT), by undertaking a systematic review of the current literature.

Methods: Electronic bibliographical databases were searched on MEDLINE and Pubmed according to the PRISMA criteria. A total of 58 articles were initially found, 11 have been excluded because of single center series later included in the European Liver transplant Registry (ELTR), already reported in this study. Read More

BMC Pulm Med 2017 Apr 19;17(1):64. Epub 2017 Apr 19.

Consultation Pluridisciplinaire Maladie de Rendu Osler, Université de Versailles SQY, APHP, Hôpital Ambroise Paré, Boulogne-Billancourt, France.

Background: Pulmonary arteriovenous malformations (PAVMs) are present in approximately 15-50% individuals with hereditary hemorrhagic telangiectasia (HHT). They may be isolated but more often are multiple. The goal of this study was to evaluate the influence of PAVMs on lung mechanical properties. Read More

Otolaryngol Head Neck Surg 2017 Aug 18;157(2):217-221. Epub 2017 Apr 18.

1 Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai, China.

To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. Read More

Otolaryngol Head Neck Surg 2017 Jul 18;157(1):162-163. Epub 2017 Apr 18.

2 Department of Otolaryngology-Head and Neck Surgery, Lankenau Medical Center, Wynnewood, Pennsylvania, USA.

J Am Acad Dermatol 2017 May;76(5):997-999

Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland.

Pediatr Pulmonol 2017 Sep 13;52(9):1206-1211. Epub 2017 Apr 13.

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

Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease with multi-systemic vascular dysplasia. Early diagnosis through screening is important to prevent serious complications. How best to screen children of affected parents for pulmonary arteriovenous malformations (PAVMs) is often subject to debate. Read More

J Am Podiatr Med Assoc 2017 Mar;107(2):155-157

Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. Read More

Rev Med Liege 2016 Dec;71(12):537-540

Chef de Département de Pédiatrie, CHC Clinique de l'Espérance, 4420 Montegnée, Belgique.

Hereditary hemorrhagic telangiectasia is a constitutional vascular dysplasia characterized by chronic epistaxis, mucocutaneous and visceral telangiectasias and arteriovenous malformations. Apart from family screenings, the disease is rarely diagnosed during the pediatric age given the late advent of typical clinical symptoms. Nevertheless, arteriovenous malformations are sometimes already present at a young age with significant morbidity risk. Read More

Am J Respir Crit Care Med 2017 Apr 4. Epub 2017 Apr 4.

Yale University, Pulmonary, Critical Care, & Sleep Medicine, New Haven, Connecticut, United States ;

Lung India 2017 Mar-Apr;34(2):206-207

Department of Radiology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.