Marfan Syndrome

Marfan Syndrome is a fairly obscure hereditary disorder affecting a the body’s connective tissue. Because connective tissue comprises so much of our bodies, this syndrome can affect nearly every part of the body, including vital organ systems, which may 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. Marfan Syndrome patients are more prone to developing some form of arthritis because the condition can affect joint, bone, and muscle health.

Causes

What causes Marfan Syndrome? Researchers have pared down this somewhat rare condition to a defect in one targeted gene. It seems that those 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 who also carry this gene.

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 Syndrome 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. Other physical characteristics of Marfan Syndrome 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.

Effects

More often than not, the most damaging aspects of Marfan Syndrome is that it can cause heart problems, skeletal deformities, abdominal hernias, blood vessel abnormalities, and problems with eyesight. Marfan Syndrome patients are at a greater risk for developing any number of types of arthritis. 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

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 should have annual skeletal evaluations to ensure spinal health and to expose any changes in the spine or sternum. Regular visual examinations are also recommended to thwart development of any serious optical complications.

See Also:

Fibromyalgia and Arthritis

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