- by Bangalore Baptist Hospital
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- Dec 22 2017
Marfan syndrome: Causes and Symptoms-Dr. Dominic Benjamin
It is an inherited disorder that affects connective tissue, the fibres that support and anchor your organs and other structures in your body. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
Connective tissues are made up of protein. The protein that plays a role in Marfan syndrome is called fibrillin-1.
It is caused by a defect in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF- β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turns creates the features and medical problems associated with the Marfan syndrome and some related disorders.
Marfan syndrome can affect many different parts of the body. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features, for example, aortic enlargement can be life-threatening. The lungs, skin and nervous system may also be affected.
It affects different people in different ways. The body systems most often affected by the syndrome are:
- People with the syndrome are typically very tall, slender, and loose-jointed. Because Marfan syndrome affects the long bones of the skeleton, a person’s arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body.
- A person with the syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded.
- People with this condition experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side.
- Marfan syndrome patients have problems associated with the heart and blood vessels.
- Marfan syndrome patients grow older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord.
- They are also at increased risk of developing an abdominal or an inguinal hernia, in which a bulge develops that contain part of the intestines.
There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose the Marfan syndrome. The doctor relies on observation and a complete medical history, including:
Information about any family members who may have the disorder or who had an early, unexplained, heart-related death.
A thorough physical examination, including an evaluation of skeletal frame for the ratio of arm/leg size to trunk size.
An eye examination, including a “slit lamp” evaluation.
There is no cure for the Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. Treatment focuses on preventing the various complications of the disease. To accomplish this, you will need to be checked regularly for signs that the damage caused by the disease is progressing.
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