Fatigue and Depression in Marfan Syndrome

By Dr. Anne Chld MD FRCP.

Recently a 44yr old man with Marfan syndrome rang for advice as he was so tired at work, that he was falling asleep at his desk and in danger of being fired from his position.  General advice in this situation, which can occur in both children and adults, was provided to be shared with his GP and employer.  As a result, we thought it would be useful to share this advice to the wider Marfan community and beyond.

Despite normal intellectual and gross motor development, Marfan syndrome patients often do not perform to the best of their ability because of physical limitations: short sightedness and loose joints as well as easy fatigability, limit physical activities and occupational choice.  Fibrillin-1 deficiency, which causes Marfan syndrome, in fact plays a role in easy fatigability, since it is a component of tendons and ligaments as well as muscle. 

In addition, our psychological studies show that children with Marfan syndrome tend to keep their worries to themselves, resulting in withdrawal, physical complaints, anxiety and depression.  Thus patients are significantly burdened by their disease in terms of its effects on day-to-day life, education and career opportunities. They experience higher rates of depression than others of the same age.

Sometimes sleep is badly disturbed by sleep apnoea (disturbed sleep during the night, with varied breathing rates and resultant early morning fatigue due to lack of sound sleep).  This can be diagnosed at a sleep study centre where treatment may be provided.  There should be one in your nearest large general hospital. Failing that, referral to an ear nose and throat surgeon for assessment may help if an obstruction is found, and can be remedied. 

Suggestions for Management by Patients

Suggestions for Collaborative Management by GPs and Employers

Your GP should oversee this programme of assessment and management. More information about Marfan syndrome management can be found here.

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