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The Curaçao criteria are well-established diagnostic criteria for HHT but lack details regarding a predictive presentation of epistaxis and telangiectasias. This study collects and compares data in HHT and population cohorts to inform the application of these criteria.
In-person interviews regarding epistaxis and targeted examination for telangiectases in a general population cohort (n=204) and an HHT cohort (n=432).
Frequency of epistaxis, rather than intensity or duration, was the best discriminator of HHT. A cut-off of 4 or more nosebleeds per year, alone, yielded a diagnostic sensitivity of 97%, and specificity of 84%. The mean number of telangiectases at the sites investigated was 0.4 in the general population cohort and 26.5 in the HHT cohort. The most distinctive sites for telangiectases in HHT were lips and palmar fingers; whereas telangiectases of the face and dorsum of the hand were comparable in both cohorts.
We propose that the Curaçao criteria be modified to include the following cutoffs: 1) epistaxis frequency of 4 or more nosebleeds per year, 2) telangiectasia count of at least 2 in characteristic locations (palmar aspect of fingers, lips and oral cavity); and that cutaneous telangiectases at other sites not be considered relevant for diagnostic purposes.
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Accepted: April 18, 2023
Received in revised form: April 16, 2023
Received: December 8, 2022
Publication stageIn Press Accepted Manuscript
Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.