Department of Pathology, University of Utah, Salt Lake City, UT.
Department of Genetics, Stanford University, Stanford, CA.
Genet Med. 2023 Aug;25(8):100865. doi: 10.1016/j.gim.2023.100865. Epub 2023 Apr 28.
The Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they 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) were conducted.
Frequency of epistaxis, rather than intensity or duration, was the best discriminator of HHT. A cutoff of ≥4 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 nosebleeds per year and (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.
库拉索标准是遗传性出血性毛细血管扩张症（HHT）的既定诊断标准，但它们缺乏关于鼻出血和毛细血管扩张症预测表现的详细信息。本研究收集并比较了 HHT 患者和普通人群队列的数据，以了解这些标准的应用情况。
对普通人群队列（n=204）和 HHT 队列（n=432）进行了关于鼻出血的面对面访谈和针对毛细血管扩张症的目标检查。
鼻出血的频率而不是强度或持续时间是区分 HHT 的最佳指标。每年≥4 次鼻出血的单独截点可获得 97%的诊断敏感性和 84%的特异性。在普通人群队列中，调查部位的毛细血管扩张症平均数量为 0.4，而在 HHT 队列中为 26.5。HHT 中毛细血管扩张症最独特的部位是嘴唇和手掌手指，而面部和手背的毛细血管扩张症在两个队列中相似。
我们建议修改库拉索标准，包括以下截点：（1）每年鼻出血频率≥4 次；（2）至少有 2 个特征部位（手指掌侧、嘴唇和口腔）的毛细血管扩张症计数，并且其他部位的皮肤毛细血管扩张症不被认为与诊断目的相关。
