1. Weak Connections
Marfan syndrome is a condition that affects the body's connective tissue. Your body's connective tissue binds or holds the different parts of your body together. It also helps to control your body's growth. The successful functioning of the connective tissue is partially due a glycoprotein known as fribrillin 1. This substance keeps connective tissue strong and flexible; however, in Marfan syndrome, there is a mutation in the genes responsible for producing fibrillin. Consequently, the fibrillin in people with Marfan syndrome isn't as effective as it should be.
2. Marfan Syndrome Doesn't Discriminate
Marfan syndrome, a genetic disease, affects a wide variety of people including men, women and children. It exists in all races and ethnicities. Today, Marfan syndrome affects approximately 1 in 5,000 Americans. Inheritance accounts for most cases of Marfan syndrome. If one parent has a defect in the gene that helps your body produce fibrillin, then there is a 50% chance that each child may be affected. This chance goes up if both parents are affected. Approximately one fourth of the cases of Marfan syndrome result from a mutation in the egg or sperm of a genetically unaffected parent.
3. Marfan Syndrome Here There and Everywhere
People with Marfan syndrome experience a wide variety of symptoms in many areas of the body including the cardiovascular system, eyes, skin, lungs, nervous system and skeleton. Since Marfan syndrome varies with respect to how it's expressed in an individual, symptoms range from mild to severe. Symptoms of greatest concern include potential for aortic dissection and aneurysm. Also, some affected individuals have a unique physical appearance which may include a long and slender look, spinal curvature, protruding breastbone, narrow face, an arched palate and flat feet. The person may be significantly taller than other members of the family.
4. Connecting the Connective Tissue Problem
There isn't a test that can be used to diagnose Marfan syndrome. Instead, a team of medical professionals, from various specializations, makes the diagnosis collaboratively. Team members may include an orthopedist, ophthalmologist, cardiologist, geneticist and general practitioner. The geneticist interviews the patient to get a complete family history. The ophthalmologist examines the eyes, the cardiologist conducts an echocardiogram and the orthopedist examines your bones. While one professional, typically the medical geneticist, leads the team and coordinates all evaluation results, it is imperative that the patient take some responsibility for making sure that all evaluations are completed.
5. Where Does Marfan Syndrome Go From Here?
Treatment for Marfan syndrome focuses on addressing the resulting complications, such as eye problems, joint troubles and cardiac issues. Medical advances allow people with Marfan syndrome to live productive lives; however, there may be a change in lifestyle after the diagnosis. Sometimes doctors recommend reduced activity, especially for children, to minimize injury. Affected individuals also must address the concern of passing the condition on to future generations. A genetic counselor can guide a couple through the risks.
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