Empfohlene Literatur — HHT · Morbus Osler

Bari O, Cohen PR. Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes. Int J Womens Health 2017; 9: 373–378

Brinjikji W, Iyer VN, Wood CP, Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. J Neurosurg 2017; 127: 302–310

Chavan A, Caselitz M, Gratz KF, Lotz J, Kirchhoff T, Piso P, et al. Hepatic artery embolization for treatment of patients with hereditary hemorrhagic telangiectasia and symptomatic hepatic vascular malformations. European radiology. 2004 Nov;14(11):2079-85. PubMed PMID: 15316741.

Chavan A, Schumann-Binarsch S, Luthe L, Nickau B, Elsasser A, Kuhnel T, et al. Systemic therapy with bevacizumab in patients with hereditary hemorrhagic telangiectasia (HHT). VASA Zeitschrift fur Gefasskrankheiten. 2013 Mar;42(2):106-10. PubMed PMID: 23485837.

Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015 May 05;84(18):1886-93. PubMed PMID: 25862798. Pubmed Central PMCID: 4433463.

Droege F, Pylaeva E, Siakaeva E, et al. Impaired Release of Neutrophil Extracellular Traps and Anemia-Associated T Cell Deficiency in Hereditary Hemorrhagic Telangiectasia. J Clin Med. 2020;9(3):767. Published 2020 Mar 12.

Dupuis-Girod S, Giraud S, Decullier E, Lesca G, Cottin V, Faure F, et al. Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2007 Mar 15;44(6):841-5. PubMed PMID: 17304458.

Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J. 2009 May;33(5):1186-94. PubMed PMID: 19407052.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics. 2011 Feb;48(2):73-87. PubMed PMID: 19553198.

Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI, Williams CA, Marchuk DA. Overlapping spectra of SMAD4  mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 2010;  152A: 333–339 Im Internet: doi.wiley.com/10.1002/ajmg.a.33206

Gallitelli M, Lepore V, Pasculli G, Di GL, Logroscino G, Carella A, et al. Brain abscess: a need to screen for pulmonary arteriovenous malformations. Neuroepidemiology. 2005 2005;24(1-2):76-8.

Geirdal AO, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K. Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study. American journal of medical genetics Part A. 2012 Jun;158A(6):1269-78. PubMed PMID: 22529055.

Geisthoff UW, Seyfert UT, Kübler M, Bieg B, Plinkert PK, König J. Treatment of  epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double- blind placebo-controlled cross-over phase IIIB study. Thromb Res 2014; 134: 565–571

Geisthoff UW et al. How to manage patients with hereditary hemorrhagic telangiectasia. Br J Haematol 2015; 171(4): 443- 52.

van Gent MW, Post MC, Snijder RJ, Westermann CJ, Plokker HW, Mager JJ. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest. 2010 Oct;138(4):833-9. PubMed PMID: 20154077.

Gossage JR. Role of Contrast Echocardiography in Screening for Pulmonary Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. Chest 2010; 138: 769–771

Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European journal of human genetics : EJHG. 2009 Jul;17(7):860-71. PubMed PMID: 19337313. Pubmed Central PMCID: 2986493.

de Gussem EM, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, et al. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstetrics and gynecology. 2014 Mar;123(3):514-20. PubMed PMID: 24499751.

Halderman AA, Ryan MW, Marple BF, Sindwani R, Reh DD, Poetker DM. Bevacizumab for Epistaxis in Hereditary Hemorrhagic Telangiectasia: An Evidence- based Review. Am J Rhinol Allergy 2018; 32: 258–268

Lund VJ, Howard DJ. Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic teleangiectasia. The Journal of Laryngology and Otology. 1996 1996;111:30-3.

Lund VJ, Howard DJ. A treatment algorithm for the management of epistaxis in hereditary hemorrhagic telangiectasia. AmJRhinol. 1999 7/1999;13(4):319-22.

Marziniak M, Jung A, Guralnik V, Evers S, Prudlo J, Geisthoff UW. An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts. Cephalalgia. 2009;29(1):76-81. doi:10.1111/j.1468-2982.2008.01703.x

Marziniak M, Jung A, Guralnik V, Evers S, Prudlo J, Geisthoff UW. An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts. Cephalalgia : an international journal of headache. 2009 Jan;29(1):76-81. PubMed PMID: 18771488.

Moulinet T, Mohamed S, Deibener-Kaminsky J, Jankowski R, Kaminsky P. High prevalence of arterial aneurysms in hereditary hemorrhagic telangiectasia. International journal of cardiology. 2014 Oct 20;176(3):1414-6. PubMed PMID: 25150474.

Müller-Hülsbeck S, Marques L, Maleux G, Osuga K, Pelage JP, Wohlgemuth WA, Andersen PE. CIRSE Standards of Practice on Diagnosis and Treatment of Pulmonary Arteriovenous Malformations. Cardiovasc Intervent Radiol. 2020 Mar;43(3):353-361

Papaspyrou G, Hecker D, Linxweiler M, Schick B, Al Kadah B. Combined therapy for epistaxis by hereditary hemorrhagic teleangiectasia: A 3-year follow up study on 45  patients. J Craniomaxillofac Surg 2017; 45: 1179–1182

Rohrmeier C, Sachs HG, Kuehnel TS. A retrospective analysis of low dose, intranasal injected bevacizumab (Avastin) in hereditary haemorrhagic telangiectasia. Eur Arch Otorhinolaryngol. 2012 Feb;269(2):531-6. PubMed PMID: 21805356.

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). American journal of medical genetics. 2000 Mar 06;91(1):66-7. PubMed PMID: 10751092.

Sindhar S, O'Bryhim BE, Licata J, Piccirillo JF, Apte RS. Identification of Retinal Vascular Lesions Using Ultra-Widefield Angiography in Hereditary Hemorrhagic Telangiectasia Patients. Ophthalmol Retina. 2019;3(6):510-515.

Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA.
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1. Am J Hum Genet. 2019 Nov 7;105(5):894-906.

Verkerk MM, Shovlin CL, Lund VJ. Silent threat? A retrospective study of screening practices for pulmonary arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia. Rhinology. 2012 Sep;50(3):277-83. PubMed PMID: 22888484.

Vorselaars VMM, Diederik A, Prabhudesai V, et al. SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. Int J Cardiol. 2017;245:114-118.

Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia. JAMA 2016; 316: 943

Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 2000 May;92(5):779-84. PubMed PMID: 10794291.

Wirsching KE, Kuhnel TS. Update on Clinical Strategies in Hereditary Hemorrhagic Telangiectasia From an ENT Point of View. Clinical and experimental otorhinolaryngology. 2016 Jul 21. PubMed PMID: 27440131.