Search Our Scientific Publications & Authors

Am J Med Genet A 2020 Jul 2. Epub 2020 Jul 2.

Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. Read More

Am J Case Rep 2020 Jul 2;21:e923355. Epub 2020 Jul 2.

Medical School, Fluminense Federal University, Niterói, RJ, Brazil.

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant disease. CASE REPORT Here, we report a case of a 49-year-old Brazilian woman with a history of multiple hospitalizations, sometimes life-threatening anemia, and uncommon clinical manifestations. CONCLUSIONS We provide a brief literature review regarding the most common signs and symptoms, history, diagnosis, and treatment. Read More

Orphanet J Rare Dis 2020 Jun 29;15(1):168. Epub 2020 Jun 29.

Facultad de Medicina, Universidad de Cantabria, Avda. Herrera Oria s/n, 39011, Santander, Spain.

Background: The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

Methods: A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex. Read More

JACC Cardiovasc Interv 2020 Jun 22. Epub 2020 Jun 22.

Department of Cardiology, The Second Affiliated Hospital of Nanchang University, Nanchang, China. Electronic address:

J Clin Med 2020 Jun 19;9(6). Epub 2020 Jun 19.

UCLA Department of Radiological Sciences, Los Angeles, CA 90095, USA.

Pulmonary arteriovenous malformations (PAVMs) are abnormal direct vascular communications between pulmonary arteries and veins which create high-flow right-to-left shunts. They are most frequently congenital, usually in the setting of hereditary hemorrhagic telangiectasia (HHT). PAVMs may be asymptomatic or present with a wide variety of clinical manifestations such as dyspnea, hypoxemia, or chest pain. Read More

Blood 2020 06 23. Epub 2020 Jun 23.

Department of Haematology, University of Cambridge, Cambridge, United Kingdom.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait. Care delivery is impeded by requirements for laborious, repeated phenotyping, and gaps in knowledge regarding the relationships between causal DNA variants in ENG, ACVRL1, SMAD4 and GDF2, and clinical manifestations. To address, we analysed DNA samples from 183 previously uncharacterised, unrelated HHT and suspected HHT cases using the ThromboGenomics high-throughput sequencing platform. Read More

Lasers Surg Med 2020 Jun 23. Epub 2020 Jun 23.

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Munich, Marchioninistr. 15, Munich, 81377, Germany.

Background And Objectives: Hereditary hemorrhagic telangiectasia (HHT) is a hereditary condition that is associated with arteriovenous malformations. A common site for these malformations is the nasal mucosa, which is associated with severe epistaxis and debilitation for affected patients. We evaluated the efficacy and safety of blue light laser technology in treating these endonasal manifestations in a retrospective chart analysis. Read More

Int J Appl Basic Med Res 2020 Apr-Jun;10(2):137-139. Epub 2020 Apr 2.

Department of Medicine, Mercy Hospital, Joplin, Missouri, USA.

Hemoptysis is one of the most common reasons for seeking emergency care. Infections and malignancy are the leading causes of hemoptysis although caused by various other pulmonary and extrapulmonary conditions. Most causes are self-limiting and do not warrant any aggressive investigation. Read More

Rev Med Interne 2020 Jun 19. Epub 2020 Jun 19.

Service de médecine vasculaire, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the triad of nose bleeding, telangiectasia and familial heredity.

Case Report: We report the case of a patient who had idiopathic venous cerebral thrombosis complicated by a cerebral infarction treated with warfarin. In the context of a psoas hematoma by warfarine overdose and immobilization, the patient had deep vein thrombosis of the left lower limb with pulmonary embolism revealing a pulmonary arteriovenous malformation. Read More

Laryngoscope 2020 Jun 18. Epub 2020 Jun 18.

Division of Rhinology, Department of Otolaryngology-Head and Neck Surgery, St. Michael's Hospital, Unity Health Toronto, University of Toronto, Toronto, Ontario, Canada.

Objective: To evaluated the efficacy and safety of in-office potassium titanyl phosphate (KTP) laser treatment for the management of epistaxis in hereditary hemorrhagic telangiectasia (HHT) patients.

Methods: A retrospective case series of all HHT patients over age of 18 who underwent in-office KTP laser treatment from July 1, 2017 to December 31, 2019 was performed. The primary outcome measure was the epistaxis severity score (ESS) pre- and post-procedure. Read More

Gen Thorac Cardiovasc Surg 2020 Jun 18. Epub 2020 Jun 18.

Department of Thoracic Surgery, Akashi Medical Center, 743-33 Okubocho Yagi, Akashi, Hyogo, 674-0063, Japan.

A 14-year-old girl was diagnosed with hemothorax associated with pulmonary arteriovenous fistula rupture, and emergency surgery was performed. One week before her surgery, her mother at 32 weeks of gestation underwent emergency surgery for hemothorax caused by pulmonary arteriovenous fistula rupture. Both were diagnosed with hereditary hemorrhagic telangiectasia. Read More

Int J Colorectal Dis 2020 Jun 15. Epub 2020 Jun 15.

Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN, USA.

Purpose: Mutations of the SMAD4 gene can result in a distinct syndrome with combined clinical features of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). Even though it is known that patients with the overlap syndrome are at increased risk for colorectal malignancies and bleeding, the outcomes of this patient population have not been extensively studied.

Methods: Retrospective study aiming to describe the phenotype and clinical outcomes of patients with genetically confirmed JP-HHT combined syndrome in a single large tertiary center in North America. Read More

J Vis Exp 2020 May 28(159). Epub 2020 May 28.

Department of Physiology and Department of Cardiology of the Second Affiliated Hospital, Zhejiang University School of Medicine; Department of Cell Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College;

Vascular development is determined by the sequential expression of specific genes, which can be studied by performing in situ hybridization assays in zebrafish during different developmental stages. To investigate the role of endoglin(eng) in vessel formation during the development of hereditary hemorrhagic telangiectasia (HHT), morpholino-mediated targeted knockdown of eng in zebrafish are used to study its temporal expression and associated functions. Here, whole-mount in situ RNA hybridization (WISH) is employed for the analysis of eng and its downstream genes in zebrafish embryos. Read More

Zhonghua Yi Xue Za Zhi 2020 Jun;100(22):1715-1719

Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; National Clinical Research Center for Respiratory Diseases, Beijing 100029, China.

To explore the value of right heart contrast echocardiography in etiological diagnosis and severity assessment of pulmonary hypertension (PH). A retrospective analysis was conducted on 74 patients who underwent transthoracic contrast echocardiography in China-Japan Friendship Hospital from May 2015 to July 2018, all of whom were diagnosed as PH by right heart catheterization. Patients were divided into three groups according to contrast echocardiography: the intra-cardiac shunt group (<4 cardiac cycles with microbubbles in the left heart); Intrapulmonary shunt group (>4 cardiac cycles with microbubbles in the left heart); non-shunt group. Read More

Bone 2020 Jun 6;138:115472. Epub 2020 Jun 6.

Department of Cell and Chemical Biology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, the Netherlands; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Box 582, Uppsala University, SE-751 23 Uppsala, Sweden; Oncode Institute, Department of Cell and Chemical Biology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, the Netherlands. Electronic address:

Bone morphogenetic proteins (BMPs) are secreted cytokines that control the fate and function of many different cell types. They exert their cellular responses via heteromeric complexes of specific BMP type I and type II serine/threonine kinase receptors, e.g. Read More

J Clin Med 2020 Jun 6;9(6). Epub 2020 Jun 6.

Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), 9 Ramiro de Maeztu Street, 28040 Madrid, Spain.

The diagnosis of hereditary hemorrhagic telangiectasia (HHT) is based on the Curaçao criteria: epistaxis, telangiectases, arteriovenous malformations in internal organs, and family history. Genetically speaking, more than 90% of HHT patients show mutations in or genes, both belonging to the TGF-β/BMP9 signaling pathway. Despite clear knowledge of the symptoms and genes of the disease, we still lack a definite cure for HHT, having just palliative measures and pharmacological trials. Read More

Neurol Sci 2020 Jun 8. Epub 2020 Jun 8.

Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, No 324, Jingwu Road, 250012, Jinan, Shandong, People's Republic of China.

Orphanet J Rare Dis 2020 Jun 5;15(1):138. Epub 2020 Jun 5.

Rare Diseases Working Group, Spanish Society of Internal Medicine, Madrid, Spain.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis.

Methods: We used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain. Read More

J Clin Med 2020 Jun 2;9(6). Epub 2020 Jun 2.

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

Although Hereditary Hemorrhagic Telangiectasia (HHT) is characterized by an overwhelming bleeding propensity, patients with this disease may also present medical conditions that require antithrombotic therapy (AT). However, precise information on indications, dosage, duration, effectiveness, and safety of AT in HHT patients is lacking. We performed a retrospective analysis of the HHT Registry of our University Hospital and found 26 patients who received AT for a total of 30 courses (19 courses of anticoagulant therapy and 11 courses of antiplatelet therapy). Read More

BMC Gastroenterol 2020 Jun 3;20(1):169. Epub 2020 Jun 3.

Department of Hepatology and Gastroenterology, the Third Central Clinical College of Tianjin Medical Universityssss, 83 Jintang Road, Hedong District, Tianjin, 300170, China.

Background: Hereditary hemorrhagic telangiectasia (HHT) often involves the liver, and belongs to abnormal blood vessel disease. The etiology of Budd-Chiari syndrome (BCS) is not clear, but congenital vascular dysplasia is considered to be one of the causes. Liver cirrhosis due to hepatic hereditary hemorrhagic telangiectasia concomitant with BCS has not been reported. Read More

Rev Recent Clin Trials 2020 Jun 3. Epub 2020 Jun 3.

Department of Gastroenterological, Fondazione Policlinico Gemelli IRCCS, Endocrino-Metabolic, and Nefrourological Science, Rome. Italy.

Background: Hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by artero-venous malformations (AVMs or telangiectasia) with autosomal dominant transmission. AVMs can occur in any organ of the body, most commonly occur in nose, pulmonary, hepatic and cerebral circulations. In patients with HHT we report teleangectasia of mucosa of gastrointestinal tract. Read More

Stem Cell Res 2020 May 28;46:101786. Epub 2020 May 28.

LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.

Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The in-frame deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated with Hereditary Hemorrhagic Telangiectasia (HHT) type 2 (Letteboer et al. Read More

Indian J Radiol Imaging 2020 Jan-Mar;30(1):98-101. Epub 2020 Mar 30.

Department of Med. Gastro, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, Tamil Nadu, India.

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is a rare condition which can result in significant abnormalities. Liver involvement in HHT consists primarily of the consequence of various intrahepatic shunts. Even though these vascular shunts are present in the majority of patients with HHT, symptoms occur only in with clear predilection to . Read More

No Shinkei Geka 2020 May;48(5):423-428

Department of Neurosurgery, Yuri Kumiai General Hospital.

Pial arteriovenous fistulae(pial AVF)are rare vascular lesions. Pial AVF is a complication of hereditary hemorrhagic telangiectasia(HHT)and is associated with a high mortality rate. Here, we report a case of a 14-year-old boy with pial AVF associated with HHT who presented with a seizure. Read More

Neurosurgery 2020 May 20. Epub 2020 May 20.

Department of Neurological Surgery, University of California, San Francisco, San Francisco, California.

Despite a variety of treatment options for brain arteriovenous malformations (bAVMs), many lesions remain challenging to treat and present significant ongoing risk for hemorrhage. In Vitro investigations have recently led to a greater understanding of the formation, growth, and rupture of bAVMs. This has, in turn, led to the development of therapeutic targets for medications for bAVMs, some of which have begun testing in clinical trials in humans. Read More

J Clin Med 2020 May 17;9(5). Epub 2020 May 17.

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

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. Read More

Am J Med Sci 2020 Apr 28. Epub 2020 Apr 28.

Department of Pulmonary and Critical Care Medicine, First Affiliated Hospital of Xi'an Medical University, Xi'an, Shaanxi, China.

Genet Med 2020 May 13. Epub 2020 May 13.

Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland.

Purpose: Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic germline variants in SMAD4 and BMPR1A. We aimed to gather detailed clinical and molecular genetic information on JPS disease expression to provide a basis for management guidelines and establish open access variant databases.

Methods: We performed a retrospective, questionnaire-based European multicenter survey on and established a cohort of SMAD4/BMPR1A pathogenic variant carriers from the medical literature. Read More

J Med Ultrason (2001) 2020 May 10. Epub 2020 May 10.

Department of Gastroenterology and Hepatology, Nihon University Hospital, Tokyo, Japan.

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a multiorgan genetic angiodysplastic affection characterized by visceral vascular malformations. It affects mainly the brains, lungs, gastrointestinal tract, and nasal mucosa. Unlike those organs, hepatic involvement, although very frequently occurring, is insufficiently recognized, mainly because of the complex vascular structure of this organ. Read More

AJNR Am J Neuroradiol 2020 Jun 7;41(6):969-975. Epub 2020 May 7.

Division of Neurointerventional Radiology (D.L.C., M.R.A., D.E.L., S.W.H.)

Background And Purpose: Patients with hereditary hemorrhagic telangiectasia (HHT) have a high prevalence of brain vascular malformations, putting them at risk for brain hemorrhage and other complications. Our aim was to evaluate the relative utility of MR imaging and MRA compared with DSA in detecting cerebral AVMs in the HHT population.

Materials And Methods: Of 343 consecutive patients evaluated at the University of California, San Francisco HTT Center of Excellence, 63 met the study inclusion criteria: definite or probable hereditary hemorrhagic telangiectasia defined by meeting at least 2 Curacao criteria or positive genetic testing, as well as having at least 1 brain MR imaging and 1 DSA. Read More

J Clin Med 2020 Apr 26;9(5). Epub 2020 Apr 26.

Hospices Civils de Lyon, Hôpital E. Herriot, Service ORL, F-69437 Lyon, France.

Hereditary hemorrhagic telangiectasia is a rare but ubiquitous genetic disease. Epistaxis is the most frequent and life-threatening manifestation and tacrolimus, an immunosuppressive agent, appears to be an interesting new treatment option because of its anti-angiogenic properties. Our objective was to evaluate, six weeks after the end of the treatment, the efficacy on the duration of nosebleeds of tacrolimus nasal ointment, administered for six weeks to patients with hereditary hemorrhagic telangiectasia complicated by nosebleeds, and we performed a prospective, multicenter, randomized, placebo-controlled, double-blinded, ratio 1:1 phase II study. Read More

Acta Med Okayama 2020 Apr;74(2):165-169

Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Itabashi-ku, Tokyo 173-8610, Japan.

Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations. Four genes (ENG, ACVRL1, SMAD4, and GDF2) have been identified as pathogenic in HHT. We describe the case of a 50-year-old Japanese man highly suspected of having HHT due to recurrent epistaxis, mucocutaneous telangiectasia, and a family history. Read More

Vasc Med 2020 Apr 17:1358863X20910479. Epub 2020 Apr 17.

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

Abnormal vasculature is a key feature of hereditary hemorrhagic telangiectasia (HHT) and can also present in the nail fold capillary beds. However, the exact prevalence and the clinical diagnostic value in HHT are still largely unknown. The nail fold can be easily and noninvasively inspected with a capillary microscope. Read More

Genet Med 2020 Jul 17;22(7):1201-1205. Epub 2020 Apr 17.

Division of Cardiovascular Medicine, Department of Medicine, University of Utah, Salt Lake City, UT, USA.

Purpose: Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia.

Methods: Review of HHT center database for individuals with three or more HHT diagnostic criteria, in whom molecular genetic analysis for ENG, ACVRL1, and SMAD4 had been performed.

Results: A variant known or suspected to be causal was detected in ENG in 67/152 (44. Read More

Clin Res Hepatol Gastroenterol 2020 Apr 7. Epub 2020 Apr 7.

Department of Hepatology and reference center of vascular liver diseases, Beaujon Hospital, AP-HP, 100, boulevard du Général Leclerc, 92118 Clichy, France; French Network for Rare Liver Diseases (FILFOIE), Saint-Antoine Hospital, APHP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Reference center of vascular liver diseases, European Reference Network (ERN) Rare-Liver.

AJR Am J Roentgenol 2020 06 7;214(6):1369-1376. Epub 2020 Apr 7.

Department of Pharmacology, Korea University College of Medicine, Seoul, Republic of Korea.

The purpose of this study was to evaluate the CT angiography (CTA) findings of pulmonary arteriovenous malformation (PAVMs) in patients with hereditary hemorrhagic telangiectasia and to correlate these findings with those of graded contrast-enhanced transthoracic echocardiography (CE-TTE). A retrospective review was conducted of PAVMs visualized at CTA of patients with abnormal CE-TTE findings (3-point scale). Location, distribution, size, number, volume, grade, and relative attenuation (attenuation of PAVM divided by attenuation of aorta) of PAVMs were recorded. Read More

Case Rep Oncol 2020 Jan-Apr;13(1):176-181. Epub 2020 Feb 18.

Department of Medicine, Division of Medical Oncology, Kansas University Medical Center, Kansas City, Kansas, USA.

Hereditary hemorrhagic telangiectasia (HHT) is a disorder characterized by vascular manifestations including mucocutaneous and visceral telangiectasias and arteriovenous malformations. Herein we present the case of a relatively young patient with HHT with an incidentally discovered locally advanced esophageal cancer on endoscopic screening and pathologically complete response after neoadjuvant chemoradiation. This case highlights an unusual tumor response to chemoradiation in locally advanced esophageal cancer, and the surveillance care of HHT patients. Read More

Case Rep Obstet Gynecol 2020 3;2020:2746947. Epub 2020 Mar 3.

Intensive Care Unit, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy of Oujda, Mohammed I University, Oujda, Morocco.

Osler-Weber-Rendu disease (OWRD), called hereditary hemorrhagic telangiectasia, is an uncommon genetic illness with the dominant autosomal transmission. It cannot be easily or quickly diagnosed because of both its infrequency and its various associated symptoms. As far as its symptoms are concerned, the patient experiences recurring epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations that can lead to severe undesirable symptoms. Read More

Open Med (Wars) 2020 6;15:134-138. Epub 2020 Mar 6.

Department of Internal Medicine, Diabetology and Clinical Pharmacology, Medical University of Lodz, 251 Pomorska Street, 92-213 Lodz, Poland.

Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations from epistaxis to clinically significant arteriovenous malformations (AVM) in the lungs, liver, brain and spine. The diagnosis of HHT is based on clinical criteria. Read More

J Clin Med 2020 Mar 12;9(3). Epub 2020 Mar 12.

Translational Oncology, Department of Otorhinolaryngology, University Hospital Essen, University Duisburg-Essen, Hufelandstrasse 55, 45147 Essen, Germany.

Hereditary hemorrhagic telangiectasia (HHT) is characterized by mucocutaneous telangiectases and visceral vascular malformations. Individuals suffering from HHT have a significantly increased risk of bacterial infections, but the mechanisms involved in this are not clear. White blood cell subpopulations were estimated with flow cytometry in 79 patients with HHT and 45 healthy individuals, and association with clinicopathological status was assessed. Read More

QJM 2020 Mar 14. Epub 2020 Mar 14.

Department of Medicine, PMMPHAMB Hospital, Jalan Sungai Basong, Tutong, Brunei Darussalam.

Am J Med Genet A 2020 05 14;182(5):1255-1258. Epub 2020 Mar 14.

Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curaçao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present, and unlikely if only one is present. Read More

Pol Arch Intern Med 2020 May 10;130(5):440-441. Epub 2020 Mar 10.

Eur Arch Otorhinolaryngol 2020 Jun 2;277(6):1659-1666. Epub 2020 Mar 2.

Department of Otorhinolaryngology, Jena University Hospital, Am Klinikum 1, 07740, Jena, Germany.

Purpose: Epistaxis is the most common ENT emergency. The aim was to determine population-based data on severe epistaxis needing inpatient treatment.

Methods: Retrospective population-based cohort study in the federal state Thuringia in 2016 performed on all 840 inpatients treated for epistaxis in otolaryngology departments (60. Read More

Orphanet J Rare Dis 2020 Mar 2;15(1):63. Epub 2020 Mar 2.

HHT Unit, Hospital Universitari de Bellvitge, C/Feixa Llarga s/n. L'Hospitalet de Llobregat, 08907, Barcelona, Spain.

Background: Gender differences in organ involvement and clinical severity have been poorly described in hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to describe differences in the severity of HHT manifestations according to gender.

Methods: Severity was measured according to Epistaxis Severity Score (ESS), Simple Clinical Scoring Index for hepatic involvement, a general HHT-score, needing for invasive treatment (pulmonary or brain arteriovenous malformations -AVMs- embolization, liver transplantation or Young's surgery) or the presence of adverse outcomes (severe anemia, emergency department -ED- or hospital admissions and mortality). Read More

Angiogenesis 2020 Aug 28;23(3):271-274. Epub 2020 Feb 28.

Department of Otorhinolaryngology, Sint Antonius Hospital, Nieuwegein, The Netherlands.

Background: Local application of fluorouracil (Efudix, 5-FU) induces sclerosis in patients with sinonasal tumors and superficial basocellular skin carcinoma. As a 'back against the wall' treatment, we investigated the local effect of nasally applied 5-FU and whether this could decrease the burden of severe epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT).

Methods: HHT patients with severe and frequent epistaxis, subsequent anemia and a necessity for blood and/or iron infusions were treated with a nasal tampon with 5-FU. Read More

Genet Mol Biol 2020 27;43(1):e20190126. Epub 2020 Feb 27.

Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Genética y Biología Molecular, Lima, Peru.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. Read More

Arterioscler Thromb Vasc Biol 2020 04 6;40(4):e87-e104. Epub 2020 Feb 6.

From the Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology (H.M.P., A.T., N.C., A.Z., E.A.V.J.), KU Leuven, Belgium.

Objective: Impaired ALK1 (activin receptor-like kinase-1)/Endoglin/BMP9 (bone morphogenetic protein 9) signaling predisposes to arteriovenous malformations (AVMs). Activation of SMAD1/5 signaling can be enhanced by shear stress. In the genetic disease hereditary hemorrhagic telangiectasia, which is characterized by arteriovenous malformations, the affected receptors are those involved in the activation of mechanosensitive SMAD1/5 signaling. Read More

Transplant Proc 2020 Mar 12;52(2):589-591. Epub 2020 Feb 12.

Department of Anesthesiology, Resuscitation and Pain Management, Virgen del Rocío University Hospital, Seville, Spain.

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is an autosomal dominant vascular disorder with low prevalence that presents a wide variety of clinical manifestations due to multiple vascular lesions in a wide variety of organs and tissues. Orthotopic liver transplantation is the only treatment option for arteriovenous malformation in HHT. These patients require complicated anesthetic management. Read More