What Is Marfan Syndrome?

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The connective tissues in our bodies work to hold the body together and create a framework for growth and development. When the connective tissues become defective and do not act as they should, it could be the result of Marfan syndrome.

Since connective tissues are found throughout the body, Marfan syndrome can affect several of the internal systems, such as the skeleton, the eyes, the heart, the blood vessels, the nervous system, the skin, and the lungs.

Marfan syndrome is a condition that affects men, women, and children of all races and ethnic backgrounds. It has been estimated that approximately one in 5,000 people in the U.S. have this condition.

When Marfan syndrome affects the skeleton, people with this disorder are usually quite tall, slender, and have loose joints. Since it affects the long bones of the skeleton, those with Marfan syndrome may have arms, legs, fingers and toes that are disproportionately long with respect to the rest of the body.

A person affected with Marfan syndrome usually has a long, narrow face, and the roof of the mouth might be arched, which in turn can cause the teeth to be crowded. Other skeletal conditions that might arise from this disorder include either a protruding or indented breast bone, curvature of the spine, and flat feet.

Those with Marfan syndrome may also experience a dislocation of one or both lenses of the eye. They may have problems associated with their heart and blood vessels. They may have problems with their nervous system or develop stretch marks on the skin that have no relation to weight change. The disease can cause the tiny air sacs in the lungs to become less elastic, but most people with Marfan syndrome do not recognize significant problems with their lungs. If, however, the tiny air sacs become stretched or swollen, that can increase the risk of lung collapse.

Marfan syndrome is caused by a defect in the gene that determines the structure of fibrillin-1, an integral protein that plays a pivotal role in the connective tissues of the body. A person is born with this disorder, although it might not be diagnosed until much later in life.

The gene that causes this disorder can be inherited. In fact, the child of one who has this disease has a 50 percent chance of inheriting it. The defective gene, however, can present itself in a variety of ways in people, so not everyone experiences the same characteristics to the same degree.

Since there is no laboratory test, blood test, or skin biopsy to diagnose this syndrome, the physician (or quite possibly a geneticist) must rely on observation and a complete medical history to make a determination. The doctor will need to have information about any family members who are affected by this disorder or who might have had an early and untimely heart-related death. The patient will have to undergo a complete physical examination which includes an evaluation of the skeleton to determine the ratio of arm and leg size to trunk size. Additionally, the patient will undergo an eye exam and certain heart tests like an echocardiogram.

A doctor may make a diagnosis of Marfan syndrome if the patient has a family history of this disorder and if at least two of the body systems have been affected. If no family members have a history of this disorder, then at least three body systems have to be affected before a conclusive diagnosis is made.

In terms of treatment options, an annual evaluation of the patient by a physician is necessary to detect any changes in the spine or sternum. This is most important in times of increased growth, such as adolescence. The patient should have regular eye exams and routine checkups end echocardiograms to help the doctor evaluate the size of the aorta and how the heart is functioning.

Marfan syndrome is a life-long disorder, but the outlook has continually improved in recent years. Today, those with Marfan syndrome have a life expectancy similar to that of an average person.

For more information on this condition, please go to http://www.medicinenet.com/script.main/art.asp?articlekey=411&pf=3&page=1 You can also find information from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at www.niams.hig.gov)

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