| Abstrakt: |
Introduction: 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. Objectives: 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. Methods: 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. Results: 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). Conclusion: 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. [ABSTRACT FROM AUTHOR] |
