Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 461-466

  van Gent, Marco W F ^a   Velthuis, Sebastiaan ^a   Post, Martijn C ^a   Snijder, Repke J ^a   Westermann, Cornelis J J ^a   Letteboer, Tom G W ^b   Mager, Johannes J ^a  

^a ST ANTONIUS HOSPITAL   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

ACVRL1 (Activin receptor like kinase); Clinical Criteria; ENG (Endoglin); HHT (Hereditary Hemorrhagic Telangiectasia)

Indexed keywords

ADULT; ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PATIENT ASSESSMENT; PREDICTIVE VALUE; PRIORITY JOURNAL; PULMONARY ARTERY MALFORMATION; RENDU OSLER WEBER DISEASE;

ADOLESCENT; ADULT; AGED; ANTIGENS, CD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; YOUNG ADULT;

EID: 84874220027     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35715     Document Type: Article

References (18)

1. Abdalla SA, Letarte M. 2006. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet 43: 97-110.
2. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D, Guttmacher A. 2003. Hereditary haemorrhagic telangiectasia: A questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 40: 585-590.
3. Bernhardt BA, Zayac C, Pyeritz RE. 2011. Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia. Genet Med 13: 812-820.
4. Bossler AD, Richards J, George C, Godmilow L, Ganguly A. 2006. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): Correlation of genotype with phenotype. Hum Mutat 27: 667-675.
5. Cottin V, Chinet T, Lavole A, Corre R, Marchand E, Reynaud-Gaubert M, Plauchu H, Cordier JF. 2007. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: A series of 126 patients. Medicine (Baltimore) 86: 1-17.
6. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. 2011. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 48: 73-87.
7. Gossage JR. 2010. Role of contrast echocardiography in screening for pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Chest 138: 769-771.
8. Letteboer TG, Zewald RA, Kamping EJ, de HG, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. 2005. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet 116: 8-16.
9. Mager JJ, Overtoom TT, Blauw H, Lammers JW, Westermann CJ. 2004. Embolotherapy of pulmonary arteriovenous malformations: Long-term results in 112 patients. J Vasc Interv Radiol 15: 451-456.
10. Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma TY, White RI. 2000. Pulmonary arteriovenous malformations: Cerebral ischemia and neurologic manifestations. Neurology 55: 959-964.
11. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. 1989. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32: 291-297.
12. Porteous ME, Burn J, Proctor SJ. 1992. Hereditary haemorrhagic telangiectasia: A clinical analysis. J Med Genet 29: 527-530.
13. Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M. 2006. Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations. J Med Genet 43: 722-728.
14. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. 2010. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 128: 61-77.
15. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. 2000. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91: 66-67.
16. Shovlin CL, Jackson JE, Bamford KB, Jenkins IH, Benjamin AR, Ramadan H, Kulinskaya E. 2008. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 63: 259-266.
17. van Gent MW, Post MC, Luermans JG, Snijder RJ, Westermann CJ, Plokker HW, Overtoom TT, Mager JJ. 2009. Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: A prospective study. Eur Respir J 33: 85-91.
18. White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE. 1988. Pulmonary arteriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology 169: 663-669.