探討精準健康諮詢對家族性高膽固醇血症相關基因異合子個體健康行為改變之影響

Abstract

研究背景：家族性高膽固醇血症（Familial Hypercholesterolemia, FH）為一種遺傳性血脂異常疾病，若未妥善控制，將顯著提高動脈粥狀硬化與心血管疾病的風險。精準健康諮詢結合基因資訊與個別化衛教，近年被視為具有潛力的策略，可提升疾病認知與促進健康行為改變，然而針對FH異合子族群的實證研究仍相對有限。 研究方法：本研究採單組前後測設計，納入臺灣精準醫療計畫（TPMI）中確認為 FH基因異合子之成人，共105位完成前測，100位完成後測。介入內容為個別化精準健康諮詢，評估疾病知識、服藥遵從性、運動、飲食與抽菸行為等變化，並探討人格特質與自我調節能力是否具有調節效果。 研究結果：介入後，參與者的疾病知識總分由6.2 （±1.7）提升至 7.1 （±1.4），差異具統計意義（p < 0.001）。其中以遺傳風險、HDL 定義與壞膽固醇評估三項知識的改善幅度最大，平均提升約 15%−16%。在血脂控制方面， LDL-C 平均值由 124.4 mg/dL（±40.0）下降至 117.1 mg/dL（±33.6），統計上顯著改善（p = 0.037），顯示介入對血脂控制具有正向影響。健康行為方面，服藥遵從性總分由2.7 （±1.7）下降至2.1 （±1.8）（p = 0.001）；每週運動時間平均增加 42 分鐘（p = 0.032）；健康飲食得分由 4.3 （±1.9）提升至 4.9 （±1.8）（p = 0.001），整體健康行為呈現正向改變。進一步的迴歸分析顯示，介入成效受到心理特質與背景因素交互作用的影響。在自我調節能力較高的參與者中，隨著年齡增加，行為改善幅度也更明顯（β = 0.01, p = 0.012）；具高外向性且有心臟病病史者，亦有較佳的行為改變（β = 0.53, p = 0.027）；首次使用藥物且具高開放性特質者的改善效果則最為顯著（β = 1.08, p = 0.008）。 結論：精準健康諮詢有助於提升 FH 異合子個體的疾病知識與部分健康行為，且其成效會受到人格特質與自我調節能力的影響。建議未來介入設計納入心理特質評估與行為支持策略，以強化高風險族群的長期健康管理與健康促進效果。

Background: Familial Hypercholesterolemia (FH) is an inherited lipid disorder that, if not properly managed, significantly increases the risk of atherosclerosis and cardiovascular disease. Precision health counseling, which integrates genetic information with personalized health education, has recently been regarded as a promising strategy to enhance disease understanding and promote health behavior change. However, empirical research focusing on individuals with heterozygous FH remains relatively limited. Methods: This study adopted a single-group pre-post design and included adults confirmed to be heterozygous for FH-related genetic variants through the Taiwan Precision Medicine Initiative (TPMI). A total of 105 participants completed the pretest and 100 completed the posttest. The intervention consisted of individualized precision health counseling, assessing changes in disease knowledge, medication adherence, exercise, diet, and smoking behaviors. The study also explored whether personality traits and self-regulation ability moderated the intervention’s effects. Results: After the intervention, participants’ total disease knowledge scores increased significantly from 6.2 (±1.7) to 7.1 (±1.4) (p < 0.001). The greatest improvements were observed in knowledge related to genetic risk, HDL definition, and the evaluation of "bad cholesterol," with average increases of approximately 15%–16%. For lipid control, the average LDL-C level decreased from 124.4 mg/dL (±40.0) to 117.1 mg/dL (±33.6), showing a statistically significant improvement (p = 0.037), indicating a positive effect of the intervention. Regarding health behaviors, medication adherence scores improved from 2.7 (±1.7) to 2.1 (±1.8) (p = 0.001); average weekly exercise time increased by 42 minutes (p = 0.032); and healthy eating scores rose from 4.3 (±1.9) to 4.9 (±1.8) (p = 0.001), indicating overall positive behavioral changes. Further regression analysis showed that the intervention’s effectiveness was influenced by the interaction between personality traits and background factors. Among participants with higher self-regulation ability, older age was associated with greater behavioral improvement (β = 0.01, p = 0.012). Participants with high extraversion and a history of heart disease also exhibited better behavior change (β = 0.53, p = 0.027), and those using medication for the first time with high openness traits showed the most significant improvement (β = 1.08, p = 0.008). Conclusions: Precision health counseling can enhance disease knowledge and improve certain health behaviors in individuals with heterozygous FH. The effectiveness of such interventions may be influenced by personality traits and self-regulation ability. Future intervention designs are recommended to incorporate psychological trait assessments and behavioral support strategies to strengthen long-term health management and health promotion in high-risk populations.