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What Is Marfan Syndrome?
Marfan syndrome is a disorder of connective
tissue. Connective tissue holds all the parts of
your body together and helps control growth.
Connective tissue gets some of its strength from
a protein called fibrillin 1. Fibrillin 1 also
plays an important role in controlling the
growth and development of the body. In Marfan
syndrome, the body produces fibrillin 1 that
does not work properly. As a result, the
connective tissue is not as strong as it should
be, and the growth and development of the body
are affected.
Effects of Marfan Syndrome on the Body
The Heart and Blood Vessels
Most people who have Marfan syndrome have
problems with their heart and blood vessels
because of weak connective tissue.
Valves in the heart may not close properly
and may let blood leak backward. The aorta––the
large artery that carries blood away from the
heart out to the body––may stretch and enlarge,
and it can burst. The aorta also can develop a
tear in its inner wall. This tear can expand and
block blood flow through the aorta. This is
called aortic dissection.
The Bones, Cartilage, and Ligaments
People with Marfan syndrome tend to have tall
and slender bodies with arms and legs
disproportionately long compared to the trunk.
They also usually have long fingers and toes.
The ligaments and joints are typically loose.
Because of rib overgrowth, the chest may
protrude or be indented. Abnormal curving of the
spine, called scoliosis (sko-le-O-sis), lordosis
(lor-DO-sis), or kyphosis (ki-FO-sis), can
occur.
The Eyes
The most common vision problem in people with
Marfan syndrome is nearsightedness (myopia).
Nearsightedness is sharp vision for things that
are close and blurred vision for things that are
farther away. Dislocation of the lens of the eye
is a hallmark of Marfan syndrome that occurs in
very few other conditions. Cataracts, or
glaucoma at an early age, or detached retinas,
also occur in people with Marfan syndrome.
The Lungs
In Marfan syndrome, the air sacs in the lungs
may be unusually large. In addition, the chest
may be abnormally shaped. For these reasons,
people with Marfan syndrome may have breathing
problems, such as collapsed lungs (spontaneous
pneumothorax) and early emphysema.
The Skin
Stretch marks, not due to weight gain or
loss, commonly occur on the skin of people with
Marfan syndrome.
More details about these characteristics and
complications of Marfan syndrome are in the
Signs and Symptoms section.
Outlook
Marfan syndrome is a lifelong disorder with
no known cure. As recently as the 1970s, most
people with Marfan syndrome did not survive
beyond age 40–50. Some infants and children died
from complications due to the condition. In most
cases, death was due to heart and blood vessel
problems.
Today, because of early diagnosis and better
medical and surgical treatments, people with
Marfan syndrome can live longer and healthier
lives, with fewer and less severe complications.
However, aging with Marfan syndrome poses new
concerns as this chronic and progressive
disorder advances. In addition, those who are
not diagnosed or treated are still at risk of an
early sudden death due to blood vessel
problems.
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