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 muscle health.

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 tissue.

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 syndrome.

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 retinal detachment.

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, aneurysm.

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 developing.

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