|Hereditary Musculoskeletal Disorders: Marfan's Syndrome|
Marfan syndrome is a heritable condition caused by a defect
in the gene that determines the structure of fibrillin , a protein
that is an important part of . The primary purpose of connective tissue is to hold the body
together and provide a framework for growth and development. In Marfan
syndrome, the connective tissue is defective and does not act as it should.
Because connective tissue is found throughout the body, Marfan syndrome
can affect many body systems, including the skeleton, eyes, heart and
blood vessels, nervous system, skin, and lungs. Marfan syndrome affects
men, women, and children, and has been found among people of all races
and ethnic backgrounds. It is estimated that at least 25,000 people in
the United States have the disease.
Symptoms and Signs
Marfan syndrome affects different people in different ways.
Some people have only mild symptoms, while others are more severely affected.
In most cases, the disease progresses as the person ages. The body systems
most often affected by Marfan syndrome are:
- Skeleton. People with Marfan syndrome
are typically very tall, slender, and loose jointed and often have a
long, narrow face, also, the roof of the mouth may be arched, causing
the teeth to be crowded. Their arms, legs, fingers, and toes may be
disproportionately long in relation to the rest of their body. Other
skeletal abnormalities include a sternum (breastbone) that is either
protruding or indented, curvature of the spine ( ),
- Eyes . More than half of all people with
Marfan syndrome experience some dislocation of one or both lenses of
the eye. Many people with Marfan syndrome are also nearsighted ( myopic ),
and some can develop early glaucoma (high
pressure within the eye) or cataracts (the
eye’s lens loses its clearness).
- Heart and blood vessels (cardiovascular
system. Most people with Marfan syndrome have abnormalities associated
with the heart and blood vessels. These may include: an abnormal valve
motion when the heart beats; leaking of the valve, creating a “heart
murmur”; the wall of the aorta (the large artery that carries blood
from the heart to the rest of the body) may be weakened and stretch,
( aortic dilation ). Aortic dilation increases
the risk that the aorta will tear ( aortic dissection )
or rupture, causing serious heart problems or sometimes even sudden
- Nervous system . The brain and spinal cord
are surrounded by fluid contained by a membrane called the dura, which
is composed of connective tissue. As people with Marfan syndrome get
older, the dura often weakens and stretches, then begins to weigh on
the vertebrae in the lower spine and wear away the bone surrounding
the spinal cord. These changes may cause only mild discomfort or may
lead to radiated pain in the abdomen or legs. This is called dural
- Skin . Many people with Marfan syndrome
develop stretch marks on their skin, even without any weight change.
These stretch marks can occur at any age and pose no health risk. However,
people with Marfan syndrome are also at increased risk for developing
an abdominal hernia : a weak part in the
abdominal wall that can bulge and contain part of the intestines.
- Lungs . If the tiny air sacs within the
lungs become stretched or swollen, the risk of lung collapse may increase.
Rarely, people with Marfan syndrome may have sleep-related breathing
disorders such as snoring or sleep apnea .
Diagnosis and Treatment
There is no specific test to diagnose Marfan syndrome.
The doctor may diagnose Marfan syndrome if the patient has a family history
of the disease and specific problems in at least two of the body systems
known to be affected. For a patient with no family history of the disease,
at least three body systems must be affected before a diagnosis is made.
In some cases, a genetic analysis may be useful.
There is no cure for Marfan syndrome. However, a range
of treatment options can reduce symptoms. The specific treatment used
depends on the system 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 .
In some cases, an orthopaedic 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 check-ups
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. 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.
- Nervous system . Although there is no way
to prevent dural ectasia from developing, medication may help minimise
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.
While Marfan syndrome is a lifelong disorder, the outlook
has improved in recent years. Early diagnosis and advances in medical
technology have improved the quality of life for people with Marfan syndrome
and lengthened their lifespan. In addition, early identification of risk
factors (such as aortic dilation) allows doctors to intervene and prevent
or delay complications.
For further, more detailed information on this topic,
please refer to the reference source for this page.
The information in this page is presented in summarised form and has been taken
from the following source(s):
1. National Institute of Arthritis
and Musculoskeletal and Skin Diseases, National Institutes of Health:
(def;articles & more)