title: The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening.
abstract: 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.
authors.affiliation: St. Antonius Hospital, Nieuwegein, The Netherlands. k.bevers@antonius.net
authors.forename: Cornelius J J
authors.initials: CJ
authors.lastname: Westermann
authors.forename: Ahlsen F
authors.initials: AF
authors.lastname: Rosina
authors.forename: Vanessa
authors.initials: V
authors.lastname: De Vries
authors.forename: Pamela A
authors.initials: PA
authors.lastname: de Coteau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D004844:Epistaxis / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009427:Netherlands Antilles / Q000453:epidemiology; D015995:Prevalence; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics*