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ABSTRACT
Purpose
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.
Methods
In-person interviews regarding epistaxis and targeted examination for telangiectases
in a general population cohort (n=204) and an HHT cohort (n=432).
Results
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.
Conclusion
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.
Keywords
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Article info
Publication history
Accepted:
April 18,
2023
Received in revised form:
April 16,
2023
Received:
December 8,
2022
Publication stage
In Press Accepted ManuscriptIdentification
Copyright
Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
