Department of Cardiology, Amsterdam UMC, Amsterdam, The Netherlands.
Department of Medical Psychology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Clin Genet. 2022 Nov;102(5):404-413. doi: 10.1111/cge.14211. Epub 2022 Sep 26.
Marfan syndrome (MFS) is a connective tissue disorder affecting the cardiovascular, ocular, and skeletal system, which may be accompanied by psychological features. This study aimed to determine the prevalence of fatigue, anxiety, and symptoms of depression in MFS patients, and to assess the degree to which sociodemographic and clinical variables are associated with fatigue and psychological aspects. The prevalence of fatigue, anxiety, and symptoms of depression were assessed in two cohorts of MFS patients and compared with healthy controls. The checklist individual strength (CIS), and hospital anxiety and depression scale (HADS) questionnaires were utilized. Medical status was assessed (family history of MFS, aortic root dilatation >40 mm, previous aortic surgery, aortic dissection, chronic pain, skeletal involvement, and scoliosis). Severe fatigue was experienced by 37% of the total MFS cohort (n = 155). MFS patients scored significantly higher on the CIS questionnaire, concerning severe fatigue, as compared with the general Dutch population (p < 0.0001). There were no differences in HADS anxiety or depression scores. In older MFS patients, with a more severe cardiovascular phenotype, chronic pain, and a higher unemployment rate, significantly more symptoms of depression were observed, when compared with the general population (p = 0.027) or compared with younger MFS patients (p = 0.026). Multivariate analysis, showed that anxiety was associated with chronic pain (p = 0.022) and symptoms of depression with unemployment (p = 0.024). MFS patients report significantly more severe fatigue as compared with the general population. Since the cause of fatigue is unclear, more research may be needed. Psychological intervention, for example, cognitive behavioral therapy, may contribute to a reduction in psychological symptoms.
马凡综合征（MFS）是一种影响心血管、眼部和骨骼系统的结缔组织疾病，可能伴有心理特征。本研究旨在确定 MFS 患者疲劳、焦虑和抑郁症状的患病率，并评估社会人口学和临床变量与疲劳和心理方面的关联程度。我们评估了两个 MFS 患者队列的疲劳、焦虑和抑郁症状的患病率，并将其与健康对照组进行了比较。使用了清单个体力量（CIS）和医院焦虑和抑郁量表（HADS）问卷。评估了医疗状况（MFS 家族史、主动脉根部扩张>40mm、既往主动脉手术、主动脉夹层、慢性疼痛、骨骼受累和脊柱侧凸）。MFS 患者的总队列中（n=155）有 37%报告了严重的疲劳。与一般荷兰人群相比（p<0.0001），MFS 患者在 CIS 问卷上的严重疲劳评分显著更高。HADS 焦虑或抑郁评分无差异。在年龄较大的 MFS 患者中，心血管表型更严重、慢性疼痛和失业率较高的患者中，观察到更多的抑郁症状，与一般人群（p=0.027）或与年轻的 MFS 患者（p=0.026）相比。多变量分析显示，焦虑与慢性疼痛相关（p=0.022），抑郁与失业相关（p=0.024）。与一般人群相比，MFS 患者报告的严重疲劳明显更多。由于疲劳的原因尚不清楚，可能需要进一步研究。心理干预，例如认知行为疗法，可能有助于减轻心理症状。
