Hereditary hemorrhagic telangiectasia: an under-recognized but potentially serious condition
DOI:
https://doi.org/10.15273/dmj.Vol42No2.6679Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a vascular condition that is inherited in an autosomal dominant fashion and demonstrates variable epidemiology by region. Delays in diagnosis are common, due to the low frequency of HHT, which may lead to serious complications and poor health outcomes. The Curaçao criteria should be used to assist with the diagnosis of HHT and to identify patients who require further investigations. This report provides an example of a patient whose diagnosis of HHT was delayed, and how the appropriate investigations were completed. We also give a brief summary of the complications of HHT and available treatments options.
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