Hereditary haemorrhagic telangiectasia: A population-based study of prevalence and mortality in Danish patients

Journal of Internal Medicine

Volumn 245, Issue 1, 1999, Pages 31-39

  Kjeldsen, A D ^a   Vase, P ^a   Green, A ^a  

^a Department of Otorhinolaryngology ^*

Author keywords

Complications; Epidemiology; HHT; Mb. Osler; Mortality; Prevalence

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; DENMARK; FEMALE; FOLLOW UP; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MORTALITY; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DENMARK; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; PREVALENCE; SEVERITY OF ILLNESS INDEX; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 0033007057     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.1999.00398.x     Document Type: Article

References (30)

1. 1 Osler W. On a family form of recurring epistaxis, associated with multiple telangiectasis of the skin and mucous membranes. Bull Johns Hopkins Hosp 1901; 28 (128): 401-3.
2. 2 Vincent P, Plauchu H, Hazan J. Faure S, Weissenbach J. Godet J. A third locus for hereditary hacmorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995; 4: 945-9.
3. 3 Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291-7.
4. 4 Jessurun GA, Kamphuis DJ, van der Zande FH, Nossent JC. Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg 1993; 95: 193-8.
5. 5 Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet 1994; 52: 252-3.
6. 6 Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992; 29: 527-30.
7. 7 Vase P. Telangiectasia haemorrhagica hereditaria. Mb.Osler. [En epidemiologisk, genetisk og klinisk undersogelse]. Odense: Odense University, 1988.
8. 8 Haitjema T, Balder W. Disch FJ, Westermann CJ. Epistaxis in hereditary haemorrhagic telangiectasia. Rhinologa 1996; 34: 176-8.
9. 9 Vase P. Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986; 91: 1079-83.
10. 10 Smith CR, Bartholomew LG, Cain JC. Hereditary hemorrhagic telangiectasia and gastrointestinal hemorrhage. Gastroenterology 1963; 44: 1-6.
11. 11 Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 1987; 82: 989-97.
12. 12 Haitjema T, Disch F. Overtoom TT, Westermann CJ, Lammers JW. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995; 99: 519-24.
13. 13 Hodgson CH, Burchell HB, Good CA, Clagett OT. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula, survey of a large family. N Engl J Med 1959; 261: 625-36.
14. 14 Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. Quart J Med 1995; 88: 879-87.
15. 15 Ference BA, Shannon TM, White RI Jr. Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994; 106: 1387-90.
16. 16 Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994; 6: 205-9.
17. 17 McAllister KA, Grogg KM. Johnson DW, Gallione CJ, Baldwin MA, Jackson CE et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345-51.
18. 18 Johnson DW, Berg JN, Baldwin MA, Gallione CJ. Marondel I, Yoon SJ et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiec tasia type 2. Nat Genet 1996; 13: 189-95.
19. 19 McAllister KA, Lennon F, Bowles Biesecker B, McKinnon WC, Helmbold EA, Markel DS et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994; 31: 927-32.
20. 20 Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996; 33: 256-7.
21. 21 Vital Statistics 1979-80 [Staistik meddelelse-Befolkningens bevægelsen 1979-80]. Copenhagen: Danmarks Saisik, 1980.
22. 22 Porteous ME, Curtis A. Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994; 31: 925-6.
23. 23 van Cutsem E. Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet 1990; 335: 953-5.
24. 24 Haitjema TJ, Overtoom TT, Westermann CJ. Lammers JW. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax 1995; 50: 719-23.
25. 25 White RI Jr, Lynch Nyhan A, Terry P, Buescher PC, Farmlett EJ. Charnas L et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolo therapy. Radiology 1988; 169: 663-9.
26. 26 Haitjema T, Westermann CJ, Overtoom TT, Timmer R, Disch F, Mauser H et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med 1996; 156: 714-9.
27. 27 Guttmacher AE, Marchuk DA, White RI. Jr Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333: 918-24.
28. 28 Sargeant IR, Loizou LA. Rampton D, Tulloch M, Bown SG. Laser ablation of upper gastrointestinal vascular ectasias: long term results. Gut 1993; 34: 470-5.
29. 29 Vickery CL, Kuhn FA. Using the KTP/532 laser to control epistaxis in patients with hereditary hemorrhagic telangiectasia. South Med J 1996; 89: 78-80.
30. 30 Siegel MB, Keane WM, Atkins JF Jr, Rosen MR. Control of epistaxis in patients with hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1991; 105: 675-9.