Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS) affect multiple organ systems and provide a risk of acute aortic dissection, which causes lifelong uncertainties. Although health‐related quality of life (HRQOL) was found to be reduced in HTAD patients, no studies have evaluated male–female‐specific aspects of HRQOL and coping in this population. This study aims to evaluate HRQOL in HTAD patients compared to the general population; assess male–female differences in HRQOL and factors associated with HRQOL; evaluate coping styles in male and female HTAD patients and identify factors associated with acceptance. All consecutive adult patients who visited the specialized HTAD outpatient clinic between 2013 and 2018 were asked to complete three HRQOL questionnaires: the Short Form 36 (SF‐36), the Hospital Anxiety and Depression Scale (HADS), and the Nijmegen Clinical Screening Instrument (NCSI). In total, 142 patients were included (mean age 42.1 years, 65 females, 123 MFS). Compared to the general population, HTAD patients scored significantly lower on multiple SF‐36 sub‐domains (males: General Health 54.5 ± 18.8 vs. 71.6 ± 20.6, p < .001; Vitality 58.3 ± 20.4 vs. 71.9 ± 18.3, p < .001; females: Physical Functioning 67.5 ± 23.8 vs. 80.4 ± 24.2, p = .003; Role Physical 58.3 ± 45.1 vs. 73.8 ± 38.5, p = .047; General Health 49.4 ± 24.3 vs. 69.9 ± 20.6, p < .001; Social Functioning 73.5 ± 22.0 vs. 82.0 ± 23.5, p = .027). Females scored significantly lower than males on the SF‐36 physical component score (41.6 [IQR 35.5–53.1] vs. 49.3 [IQR 42.3–54.6], p = .035). Males scored significantly higher on the coping style denial than females (2.75 [IQR 2.00–3.25] vs. 2.25 [IQR 1.75–3.25], p = .018). High scores on acceptance were found in 38 (26.8%) of HTAD patients, and these patients showed significantly better scores on the NCSI, SF‐36, and HADS, except on NCSI Satisfaction Relationships and SF‐36 Physical Functioning and Mental Health. Acceptance was associated with more medication use (beta blocker use, p = .008; angiotensin receptor blocker use, p = .003) and less hypertension (p = .001). In patients with MFS, employment was strongly associated with better scores on the NCSI. In conclusion, HTAD patients showed subnormal HRQOL, especially females. Interestingly, in both males and females factors such as employment, coping style, and disease acceptance seem more important for HRQOL than disease‐related factors. This highlights the importance of genetic counseling and guidance for HTAD patients, and offers valuable leads for HRQOL improvement.

中文翻译：

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马凡综合征和遗传性胸主动脉疾病患者生活质量和应对方式的男女差异。


马凡综合征 (MFS) 等遗传性胸主动脉疾病 (HTAD) 会影响多个器官系统，并存在急性主动脉夹层风险，从而导致终生的不确定性。尽管发现 HTAD 患者的健康相关生活质量 (HRQOL) 降低，但没有研究评估该人群中 HRQOL 和应对方式的男女特异性。本研究旨在评估 HTAD 患者与一般人群相比的 HRQOL；评估 HRQOL 的男女差异以及与 HRQOL 相关的因素；评估男性和女性 HTAD 患者的应对方式并确定与接受程度相关的因素。 2013 年至 2018 年间访问 HTAD 专科诊所的所有连续成年患者均被要求填写三份 HRQOL 问卷：简表 36 (SF-36)、医院焦虑和抑郁量表 (HADS) 以及奈梅亨临床筛查仪 (Nijmegen Clinical Screening Instrument)。国家癌症研究所）。总共纳入 142 名患者（平均年龄 42.1 岁，65 名女性，123 名 MFS）。与一般人群相比，HTAD 患者在多个 SF-36 子领域的得分显着较低（男性：一般健康 54.5 ± 18.8 对比 71.6 ± 20.6， p < .001；活力 58.3 ± 20.4 对比 71.9 ± 18.3， p < .001；女性：身体机能 67.5 ± 23.8 对比 80.4 ± 24.2， p = .003；角色身体 58.3 ± 45.1 对比 73.8 ± 38.5， p = .047；一般健康 49.4 ± 24.3 对比 69.9 ± 20.6， p < .001；社会功能 73.5 ± 22.0 与 82.0 ± 23.5， p = .027)。女性在 SF-36 身体成分评分上的得分显着低于男性（41.6 [IQR 35.5–53.1] vs. 49.3 [IQR 42.3–54.6]， p = 0.035）。男性在应对方式否认方面的得分显着高于女性（2.75 [IQR 2.00–3.25] vs. 2.75）。25 [IQR 1.75–3.25]， p = .018）。 38 名 (26.8%) HTAD 患者的接受度得分较高，这些患者在 NCSI、SF-36 和 HADS 上的得分明显更高，但 NCSI 满意度关系和 SF-36 身体功能和心理健康除外。接受与更多的药物使用（β受体阻滞剂的使用， p = .008；血管紧张素受体阻滞剂的使用， p = .003）和较少的高血压（ p = .001）相关。在 MFS 患者中，就业与较高的 NCSI 得分密切相关。总之，HTAD 患者的 HRQOL 低于正常水平，尤其是女性。有趣的是，对于男性和女性来说，就业、应对方式和疾病接受度等因素对于 HRQOL 来说似乎比疾病相关因素更重要。这凸显了遗传咨询和指导对 HTAD 患者的重要性，并为改善 HRQOL 提供了宝贵的线索。