Marfan Syndrome (cont.)
What types of doctors treat
Marfan syndrome?
Because a number of body systems may be affected, a person with Marfan syndrome
should be cared for by several different types of doctors. A general
practitioner or pediatrician may oversee routine health care and refer the
patient to specialists such as a cardiologist (a doctor who specializes in heart
disorders), an orthopaedist (a doctor who specializes in bones), or an
ophthalmologist (a doctor who specializes in eye disorders) as needed. Some
people with Marfan syndrome are also treated by a geneticist.
What treatment options are
available for Marfan syndrome?
There is no cure for Marfan syndrome. To develop one, scientists may have to
identify and change the specific gene responsible for the disorder before birth.
However, a range of treatment options can minimize and sometimes prevent
complications. The appropriate specialists will develop an individualized
treatment program; the approach the doctor uses depends on which systems have
been affected.
- Skeletal--Annual
evaluations are important to detect any changes in the spine or sternum. This
is particularly important in times of rapid growth, such as adolescence. A
serious deformity can not only be disfiguring but can also prevent the heart
and lungs from functioning properly. In some cases, an orthopedic brace or
surgery may be recommended to limit damage and disfigurement.
- Eyes--Early, regular eye
examinations are key to catching and correcting any vision problems associated
with Marfan syndrome. In most cases, eyeglasses or contact lenses can correct
the problem, although surgery may be necessary in some cases.
- Heart and blood vessels--Regular checkups and echocardiograms help the
doctor evaluate the size of the aorta and the way the heart is working. The
earlier a potential problem is identified and treated, the lower the risk of
life-threatening complications. Those with heart problems are encouraged to wear
a medical alert bracelet and to go to the emergency room if they experience
chest, back, or abdominal pain. Some heart valve problems can be managed with
drugs such as beta-blockers, which may help decrease stress on the aorta. In
other cases, surgery to replace a valve or repair the aorta may be necessary.
Surgery should be performed before the aorta reaches a size that puts it at high
risk for tear or rupture. Following heart surgery, extreme care must be followed
to prevent endocarditis
(inflammation of the lining of the heart cavity and valves). Dentists should
be alerted to this risk; they are likely to recommend that the patient be
prescribed protective medicines before they perform dental work.
- Nervous system--If dural
ectasia (swelling of the covering of the spinal cord) develops, medication may
help minimize any associated pain.
- Lungs--It is especially important that people with Marfan syndrome not
smoke, as they are already at increased risk for lung damage. Any problems with
breathing during sleep should be assessed by a doctor.
Pregnancy poses a particular concern due to the stress on the body,
particularly the heart. A pregnancy should be undertaken only under conditions
specified by obstetricians and other specialists familiar with Marfan syndrome
and be followed as a high-risk condition.
While eating a balanced diet is important for
maintaining a healthy lifestyle, no vitamin
or dietary supplement has been shown to help slow, cure,
or prevent Marfan syndrome.
Next: What are some of the emotional
and psychological effects of Marfan syndrome? »
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