Marfan Syndrome and Arthritis
Marfan Syndrome is a hereditary disorder that
affects the body's connective tissue. Since
connective tissue makes up so much of our body, this syndrome
can affect the vital organ systems, which include the
lungs, skeleton, heart, blood vessels, eyes, and joints.
Marfan syndrome is relatively rare, and can affect men and
women from all backgrounds. However, it has a strong hereditary
factor: if your mother or father has Marfan Syndrome, there is
a good chance that you have it as well.
Because of the systematic nature of this disorder, Marfan
Syndrome can have a strong effect on the patient's overall
health. Patients are more prone to developing some form of
arthritis because the condition can affect joint, bone, and
What causes Marfan Syndrome?
Researchers have determined that a defect in
one particular gene is the base. It appears that people
with Marfan Syndrome are all born with a defect in the gene
that is responsible for the structure of fibrillin. Fibrillin
is a protein that is instrumental in building connective
Most of the time, this defective gene is inherited from one
or both parents. How do you know if you carry this gene? New
genetic tests can determine the presence of this gene, although
these types of tests are usually not necessary. Most of the
time, patients will manifest external signs of the
People with Marfan Syndrome tend to be very tall,
loose-jointed, and somewhat slender.
Many people with Marfan often have long bones,
including long arms, legs, fingers, and toes. The bones tend to
be longer in relation to the rest of the body. To put this into
visual perspective picture a person who is 5 foot with arms
that would fit a 5 foot 10 inch person. At the end of
that arm is a hand with very long fingers and those fingers can
be stretched backwards almost at an angle. Other physical
characteristics include a long, narrow face, the presence
of a protruding breastbone, flat feet, and a curved spine. The
mouths of Marfan Syndrome patients often share several
features, which include an arched roof of the mouth, and
excessive teeth crowding.
More often than not, the most damaging aspects of Marfan
Syndrome is that it can cause skeletal deformities, heart
problems, blood vessel abnormalities, abdominal hernias, and
problems with eyesight.
Marfan Syndrome patients are at a greater risk for
developing any number of types of arthritis. Since the
connective tissue is the issue here the possibility for joint
problems is much higher than for most folks.
Common eye problems include dislocation of the lenses and
Marfan Syndrome patients are also at a greater risk for
developing severe heart and blood vessel problems. In many
cases, the heart valve located between the left chambers may
become soft and enlarged, causing an irregular valve motion
that can result in a heart murmur, and in more advanced cases,
Treatment for Marfan Syndrome can be difficult since there
is no cure for this condition.
Rather, treatment consists of monitoring the condition
carefully and managing any symptoms that may arise. Marfan
Syndrome is still a relatively unknown condition, so patients
must seek out attention from doctors who are familiar with the
condition. Most Marfan Syndrome patients must undergo an annual
skeletal evaluation to ensure spinal health and to uncover any
changes in the spine or sternum. Regular visual examinations
are also recommended to prevent serious eye complications from
For an up close and personal view of Marfan, check out this
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