The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening

Am J Med Genet A. 2003 Feb 1;116A(4):324-8. doi: 10.1002/ajmg.a.10002.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Arteriovenous Malformations / diagnosis
  • Arteriovenous Malformations / epidemiology*
  • Arteriovenous Malformations / genetics
  • Epistaxis / epidemiology
  • Epistaxis / etiology*
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Netherlands Antilles / epidemiology
  • Prevalence
  • Pulmonary Artery / abnormalities*
  • Pulmonary Veins / abnormalities*
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic / genetics*