As there is currently no cure available for Marfan syndrome, the aim of treatment is to manage the symptoms and reduce the risk of complications. Due to the complex nature of the condition, in that it affects many bodily systems, a multidisciplinary team is usually needed to provide the optimal management plan.
Management of Skeletal Symptoms
The skeletal symptoms associated with Marfan syndrome often cause pain and discomfort for patients. It can also alter the physical appearance of the individuals, which may cause them to feel less confident in social situations.
The treatment of scoliosis associated with Marfan syndrome depends on the extent of the curvature of the spine. In mild cases, monitoring for signs of worsening is sufficient, and a back brace is required for patients with to prevent further development of symptoms in some cases. For more severe cases of scoliosis, surgical intervention may be required to straighten the spine.
The positioning of the chest can also be altered to form a concave or convex protrusion, which can press against the lungs and affect the breathing, with fatal potential. Surgery is required to correct concave positioning and ease the pressure on the lungs, although it is not usually needed for a convex chest.
Physiotherapy can also be useful for some patients to ease the related pain with specific exercises and massage techniques. This can help to promote healing and improve range of movement in joints, in addition to some pain relief.
Management of Cardiovascular Symptoms
The cardiovascular complications of Marfan syndrome have the potential to be fatal and should, therefore, monitored closely to allow for early intervention and treatment, if needed. The involvement of a cardiologist is recommended to monitor the function of the heart with specialized tests, such as an echocardiogram.
In many cases, a beta-blocker medication is prescribed to prevent possible damage to the heart by slowing the progression of aortic enlargement.
If abnormalities in the aorta or heart valves are detected, treatment should be commenced immediately. Surgery may be required in the case of life-threatening complications, such as to repair or replace an enlarged aorta. When it is severely enlarged, the risk of rupture increases with surgery and the operation is too risky, thus close monitoring for signs of rupture should be undertaken.
Management of Optical Symptoms
The involvement of the eyes in Marfan syndrome should be checked to identify changes that may lead to damage or loss of vision.
- Cataract surgery may be required to remove and replace the affected lens with an artificial lens.
- Glaucoma cannot be cured by treatment with eye drops, laser therapy of surgery may be of benefit.
- Short-sightedness can be corrected with the use of glasses or contact lenses.
Management of Psychological Symptoms
Many patients find the symptoms of Marfan syndrome to be difficult to cope with and may be embarrassed about their physical appearance when in social situations.
A strong support network can help individuals to deal with their concerns and difficulties related to dealing with the condition. Some patients find that it is beneficial to discuss their situation with a health professional, such as a counselor or a psychologist.