Health-Related Quality of Life of Patients with Marfan Syndrome-Polish Study.

Background: Despite extensive knowledge about the quality of life of people suffering from rare diseases, data on patients with Marfan syndrome (MFS) are scarce and inconsistent. Hence, the problem of assessing the quality of life (QOL) and its relationship with the assessment of which ailments are the most burdensome for these patients is still open. Aim: Comparison of the quality of life of patients with MFS and determination as to which of the reported complaints in patients with MFS are related to the QOL of patients. Methods: The study included 35 patients with MFS and 35 healthy controls, matched for gender and age. In the study, the questionnaire of quality of life assessment SF-36 was used to assess the level of health-related quality of life, as well as an interview of the most severe symptoms reported by patients with MFS. Results: The level of the physical dimension of the QOL (p < 0.001) and limiting of roles due to physical health (p = 0.002), as well as the level of general index of the QOL (p < 0.001), were statistically significantly lower in MFS patients when compared to controls. People from both studied groups do not vary in the scope of pain, vitality, social functioning, limiting the roles due to emotional problems, and state of mind but also in the mental dimension of the health-related quality of life (HRQL). Additionally, there has been a correlation between HRQL and the subjective assessment of the effects of orthopedic, ophthalmic, and cardiological problems in life, as well as lower exercise tolerance in the evaluation of people with MFS and QOL in most areas. Conclusions: Patients with MFS present a reduced QOL in the areas of physical functioning, limiting roles due to physical health, general feeling of general health, the physical dimension of the HRQL, and the general index of the QOL; in these areas, they require careful evaluation, as well as medical and psychosocial assistance.