Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: Survey

Observational Survey on Fatigue Levels in Relation to Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome

The goal of this observational study is to describe and assess the presence of perceived fatigue in subjects with MFS and EDS. the main question it aims to answer through the FSS instrument is:

• The relationship of fatigue with physical and psychological characteristics, the presence of depressive disorders and insomnia.

Marfan syndrome (MFS) and hypermobile Ehlers-Danlos Syndrome (hEDS) are rare diseases of the connective tissue presenting peculiar symptoms as well as high mortality due to complications related to dilatation and dissection of the ascending aorta and great arteries. Life expectancy of patients with MFS and hEDS has improved markedly in the last decades, but still remains lower than that of the general population. Fatigue represent one of the main causes that limit the quality of life in these populations. The Fatigue Severity Scale (FSS) is a questionnaire widely used in populations with chronic diseases and has been previously applied in MFS and hEDS population: indeed, fatigue interferes with activities of daily living and the presence of chronic pain. However, the potential correlations that fatigue may have with different aspects of psychological well-being (i.e. insomnia and depression) were not investigated in MFS and hEDS.

Inclusion Criteria:

• Subjects aged 18 or greater with clinical and/or genetic diagnosis of Marfan syndrome;
• Subjects aged 18 or greater with clinical and/or genetic diagnosis of hypermobile Ehlers-Danlos syndrome;
• Signed informed consent;
• Ability to speak, read and write in Italian.