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 aortathe large artery that carries
blood away from the heart out to the bodymay 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 4050. 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.
July 2006
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