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The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro‐Caribbean population of the Netherlands Antilles: A family screening
Author(s) -
Westermann Cornelius J.J.,
Rosina Ahlsen F.,
de Vries Vanessa,
Coteau Pamela A. de
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10002
Subject(s) - telangiectasia , medicine , afro caribbean , population , dermatology , pediatrics , environmental health , political science , law
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. © 2003 Wiley‐Liss, Inc.