Velvin Gry, Bathen Trine, Rand-Hendriksen Svend, Geirdal Amy Østertun
Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Norway.
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, Norway.
Am J Med Genet A. 2015 Dec;167A(12):3082-90. doi: 10.1002/ajmg.a.37370. Epub 2015 Sep 30.
Marfan syndrome (MFS) is a severe autosomal dominant connective tissue disorder that might influence peoples work ability. This cross sectional study aims to investigate work participation in adults with verified MFS diagnosis and to explore how the health related consequences of MFS and other factors might influence work participation. The prevalence of health problems in young adults compared to older adults with MFS was examined in association to work participation. A postal questionnaire including questions about work participation, demographic characteristics, MFS related health problems, chronic pain, and fatigue was sent to 117 adults with verified MFS (Ghent 1), and 62% answered. Fifty-nine percent were employed or students, significantly lower work participation than the General Norwegian Population (GNP), but higher than the Norwegian population of people with disability. Most young adults worked full-time despite extensive health problems, but the average age for leaving work was low. Few had received any work adaptations prior to retiring from work. In multiple logistic regression analysis, only age, lower educational level and severe fatigue were significantly associated with low work participation; not MFS related health problems or chronic pain. Fatigue appears to be the most challenging health problem to deal with in work, but the covariance is complex. Focus on vocational guidance early in life, more appropriate work adaptations, and psychosocial support might improve the possibility for sustaining in work for adults with MFS. More research about work challenges in adults with MFS is needed.
马凡综合征（MFS）是一种严重的常染色体显性结缔组织疾病，可能会影响人们的工作能力。这项横断面研究旨在调查确诊为MFS的成年人的工作参与情况，并探讨MFS的健康相关后果及其他因素如何影响工作参与。研究了与工作参与相关的年轻成人与老年MFS患者的健康问题患病率。向117名确诊为MFS的成年人（根特标准1）发送了一份邮政调查问卷，内容包括工作参与情况、人口统计学特征、与MFS相关的健康问题、慢性疼痛和疲劳等问题，62%的人进行了回复。59%的人受雇或为学生，其工作参与率显著低于挪威普通人群（GNP），但高于挪威残疾人群体。尽管存在广泛的健康问题，大多数年轻成年人仍全职工作，但离职的平均年龄较低。很少有人在退休前接受过任何工作调整。在多因素逻辑回归分析中，只有年龄、较低的教育水平和严重疲劳与低工作参与率显著相关；与MFS相关的健康问题或慢性疼痛无关。疲劳似乎是工作中最难应对的健康问题，但协方差很复杂。在生命早期关注职业指导、进行更适当的工作调整以及提供心理社会支持，可能会提高MFS成年人继续工作的可能性。需要对MFS成年人的工作挑战进行更多研究。
