| The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. | |
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MedLine Citation:
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PMID: 12522784 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary hemorrhagic telangiectasia (HHT) has been reported rarely in people of African descent. The prevalence in the Afro-Caribbean population of the Netherlands Antilles is suspected to be high. A family screening in this population was done to arrive at a point prevalence and to identify patients with pulmonary involvement. By clinical history and physical examination, 219 persons over age twelve with a first-degree relative with HHT were screened. The diagnosis was based on the new diagnostic criteria [Shovlin et al., 2000]. Chest-roentgenogram and pulse-oximetry or measurement of arterial oxygen pressure were used to detect pulmonary involvement. HHT was diagnosed in 112 individuals (51%), with at least a point prevalence of 1 in 1,331 inhabitants of Curaçao and Bonaire older than twelve years. The diagnosis was uncertain in 27; this was partly due to the new stringent criteria. Epistaxis was present in 98% and telangiectases in 99%. Facial telangiectases were relatively rare due to pigmented skin. Pulmonary involvement was found in 28% with serious-mainly neurological-complications in 48%. The point-prevalence of HHT in the Afro-Caribbean population of the Netherlands Antilles is the highest known in the world. Pulmonary involvement in this population is not rare and causes serious complications. |
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Authors:
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Cornelius J J Westermann; Ahlsen F Rosina; Vanessa De Vries; Pamela A de Coteau |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 116A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Feb |
Date Detail:
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Created Date: 2003-01-10 Completed Date: 2003-09-08 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 324-8 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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St. Antonius Hospital, Nieuwegein, The Netherlands. k.bevers@antonius.net |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Arteriovenous Malformations / diagnosis, epidemiology*, genetics Epistaxis / epidemiology, etiology* Female Genetic Testing Humans Male Middle Aged Netherlands Antilles / epidemiology Prevalence Pulmonary Artery / abnormalities* Pulmonary Veins / abnormalities* Telangiectasia, Hereditary Hemorrhagic / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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