Marfan syndrome is genetic in nature and afflicts connective tissues. Connective tissues are primarily responsible for holding the body together. They also provide the framework for growth and development. When a person has the disease, the connective tissue is faulty and not functioning as well as it should. And because connective tissues are located in various parts of the body, the disease can affect as many parts of the body.
Marfan syndrome can affect anyone – women, men, and children – regardless of race and ethnic background. In the US alone, it is estimated that one for every 5,000 citizens has the disorder.
Some patients manifest only mild symptoms while others show more severe cases. In many instances, the symptoms develop as the patient ages. Following are the most commonly affected parts of the human body:
- Skeleton – People affected by the disease may be unusually tall, slim and loose-jointed. Since the disease affects the longer bones, the patient’s arms, legs, toes, and fingers may be disproportionate to the rest of the body.
- Eyes – More than 50% of patients may experience lens dislocation in either or both of the eyes. It may be minimal but it can sometimes be obvious and pronounced.
- Cardiovascular System – People with Marfan syndrome usually experience heart problems or disorders in the blood vessels.
- Nervous System – The spinal cord and the brain are surrounded by fluids contained in the membrane dura, which is composed of connective tissues. As the patient ages, the dura weakens and stretches resulting to pressure on the vertebrae and wearing away of the bones around the spine.
- Skin – People with the disease, even in the absence of weight changes, develop stretch marks. This can happen at any age but poses no health hazards.
Marfan syndrome usually starts from a mutation or defect in the genes. An afflicted person is born with the disorder although it may only be diagnosed later in the person’s life.
The defective gene that causes the disease may be inherited. An offspring has a 50% chance of getting the disease. It is also possible for two people who are not affected by the disease to have a child with the syndrome. This usually happens when a new gene defect happens during the development of the egg or sperm cells.
There is no particular lab test that can accurately diagnose Marfan syndrome. The doctor or geneticist relies mainly on observation and a reading of the complete medical history including: data on any past occurrences in the family; thorough physical exam that includes evaluation of the skeletal frame to determine extremity – trunk ratio; eye examination that includes a slit lamp evaluation; heart tests such as ECG.
Since the disease affects numerous parts of the body, the patient must be given attention by the appropriate specialist.
There is actually no known cure for Marfan syndrome. Scientists are still trying to find a way to effectively eliminate the disease. However, there are many treatment options available that can minimize, and in most cases, prevent complications from happening.
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