There is no specific test for Marfan syndrome. Your doctor will:
- Ask for information about any family members with the disorder or who had an early, unexplained, heart-related death.
- Give you a physical examination, and measure how long your arms and legs are in proportion to your trunk.
- Examine your eyes.
- Use a special device to test your heart and aorta.
- Perform a genetic analysis, although this can be time consuming and less informative.
- Give you a diagnostic test to rule out a similar disorder, Loeys-Dietz syndrome.
There is no cure for Marfan syndrome, although treatment can help. The earlier a potential problem is found, the more likely you can prevent complications. You should see your doctor for regular check-ups to look for changes in the following:
- Skeleton (spine and sternum). In some cases, an orthopaedic brace or surgery may be recommended.
- Eyes. In most cases, eyeglasses or contact lenses can correct eye issues, although surgery may be necessary in some cases.
- Heart and blood vessels. If you have heart problems you should wear a medical alert bracelet and go to the emergency room if you have chest, back, or abdominal pain. Treatments can include:
- Medications to control heart valve problems by decreasing stress on the aorta
- Surgery to repair the aorta or replace the valve. Artificial heart valves can increase the risk for blood clots or heart inflammation. Doctors will put you on blood thinners if you have a valve replaced, and your dentist may recommend you take medications prior to any dental work. There is a type of surgery that allows people to keep their own valves.
- Nervous system. Medication can help reduce pain if the tissue covering the spinal cord begins to swell.
- Lungs. You should not smoke, since you have higher risk for lung damage. You should talk to your doctor about breathing problems when sleeping.
Pregnancy. Women with Marfan syndrome can have healthy babies. However, pregnancy is considered high risk because it stresses the heart. There are some things you can do to reduce this risk:
- Talk to your doctor if you are planning to get pregnant. In some cases, you may need valve surgery prior to pregnancy.
- See your doctor on a regular basis to prevent problems with the heart while pregnant.
You might also wish to see a genetic counselor, who can tell you the likelihood of passing the disease to your children.
Doctors who may treat Marfan syndrome include:
- Family doctor or pediatrician, who oversees routine health care.
- Cardiologist, who treats issues with the heart.
- Orthopaedist, who treats bone problems.
- Ophthalmologist, who treats eye disorders.
- Geneticist, who can tell you the likelihood that your child will inherit the disease.
Diagnosis and treatment of Marfan syndrome have improved over the last few decades. These advances make it possible for people with Marfan syndrome to live about as long as the average person.
However, Marfan syndrome can cause strong emotions, such as anger and fear. You may also be worried that you children will have the disease. Some children with Marfan syndrome are told to restrict their activities. This may be hard for a child to understand or accept.
Ways to cope with Marfan syndrome include:
- Appropriate medical care.
- Accurate information.
- Social support.
- Moderate exercise is important to keep the skeleton and heart healthy. Because of possible problems with the aorta, you should not play in contact sports, competitive athletics, or do exercises where you tighten the muscles without moving them. “Planks” are an example of this last type of exercise.
- Genetic counseling may also be helpful for understanding the disease and determining the likelihood you will pass it on to your children.