The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
Abstract
We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle‐aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.
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Citations
Cites
Nodular transformation of the liver in hereditary hemorrhagic telangiectasia.
Wanless, I. R., & Gryfe, A. (1986) · PubMed · Cited by 95
Trell, E., Johansson, B. W., Linell, F., & Ripa, J. (1972) · The American Journal of Medicine · doi:10.1016/0002-9343(72)90115-5 · Cited by 79
Cited by
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Faughnan, M. E., Palda, V. A., Garcia-Tsao, G., Geisthoff, U. W., McDonald, J., Proctor, D. D., Spears, J., Brown, D. H., Buscarini, E., Chesnutt, M. S., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069013 · Cited by 1,082
Self-citationHereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., Whitehead, K., Stevenson, D. A., & Bayrak-Toydemir, P. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00001 · Cited by 726
Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
McDonald, J., Bayrak-Toydemir, P., & Pyeritz, R. E. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182136d32 · Cited by 398
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
Cole, S. G., Begbie, M. E., Wallace, G. M. F., & Shovlin, C. L. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028712 · Cited by 320
Metadata
- Authors
- Plauchu, H., De Chadarévian, J., Bideau, A., & Robert, J.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1989-03
- Volume
- 32
- Issue
- 3
- Pages
- 291-297
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2060984299
- Cited by
- 580
- References
- 2
- FWCI
- 2.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- Plauchu, H., De Chadarévian, J., Bideau, A., & Robert, J. (1989). Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320320302
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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