Saparia Tina, Faughnan Marie E, Schneider Jennifer L, Almers Lucy M, Chow Norma, Grosse Scott D, Kim Helen, Zaroff Jonathan G
Redwood City Medical Center, CA.
University of Toronto, Ontario, Canada.
Perm J. 2019;23. doi: 10.7812/TPP/18-145.
Hereditary hemorrhagic telangiectasia (HHT) is a rare, genetic, and underdiagnosed disease that causes vascular malformations throughout the body. Two specific combinations of International Classification of Diseases, Ninth Revision-Clinical Modification diagnosis codes, the "HHT Algorithms" (HHTAs), were developed previously from a derivation cohort to help identify undiagnosed HHT cases.
To test these 2 algorithms, and a third, newly designed HHTA, in an independent population with available clinical records and thus identify people who might have undiagnosed HHT.
The HHTAs were applied to the patient population of Kaiser Permanente Northern California. The HHTAs produced 3 groups (A, B, and C) using different combinations of diagnosis codes reflecting clinical manifestations of HHT. First, the number of Kaiser Permanente Northern California patients with each code was determined by database programming. Next, detailed chart review was performed, and patients with a Curaçao score of 2 or higher were considered to have possible HHT.
Of 3,065,210 records queried, 163 patients met HHTA criteria. After chart review, the study identified 113 patients with possible undiagnosed HHT (Group A: n = 3, Group B: n = 3, Group C: n = 107).
Employing the HHTAs in this community-based population resulted in a modest yield of patients with possible HHT. Further research is required to assess the utility of the HHTAs in identifying patients with actual HHT.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的、遗传性且诊断不足的疾病，可导致全身血管畸形。先前从一个推导队列中开发了两种特定的国际疾病分类第九版临床修订版诊断代码组合，即“HHT算法”（HHTA），以帮助识别未确诊的HHT病例。
在一个有可用临床记录的独立人群中测试这两种算法以及第三种新设计的HHTA，从而识别可能患有未确诊HHT的人群。
将HHTA应用于北加利福尼亚州凯撒医疗集团的患者群体。HHTA使用反映HHT临床表现的不同诊断代码组合产生了3组（A、B和C）。首先，通过数据库编程确定北加利福尼亚州凯撒医疗集团每个代码的患者数量。接下来，进行详细的病历审查，库拉索岛评分2分或更高的患者被认为可能患有HHT。
在查询的3,065,210条记录中，163名患者符合HHTA标准。经过病历审查，该研究确定了113名可能患有未确诊HHT的患者（A组：n = 3，B组：n = 3，C组：n = 107）。
在这个以社区为基础的人群中应用HHTA，可能患有HHT的患者检出率适中。需要进一步研究以评估HHTA在识别实际患有HHT患者方面的效用。
