Recognize the Causes and Symptoms of Marfan Syndrome

Marfan syndrome is a genetic disorder that causes disorders of the connective tissue. Marfan's Syndrome affects a variety of organorganization , such as the body's framework, eyes, heart, blood vessels, lungs, and nervous system.

Marfan's syndrome is a genetic disorder that occurs in 1 in 5,000 people worldwide. This syndrome can cause mild symptoms, but as you age, Marfan syndrome can cause adverse effects on health. Even in some cases, Marfan's syndrome can cause serious complications that can be life threatening.

Recognize the Causes and Symptoms of Marfan Syndrome

Causes of Marfan Syndrome

Causes of Marfan syndrome are gene mutations that regulate the formation of connective tissue. One of the proteins that is impaired is the formation of fibrillin-1 protein. Disruption of this protein will cause disruption to the elasticity and stability of the connective tissue throughout the body.

Most cases of Marfan syndrome are inherited genetic disorders. So, when one parent experiences this syndrome, his offspring have a risk of suffering from Marfan syndrome. But in 25% of cases, Marfan syndrome results from spontaneous genetic mutations that are not affected by heredity.

Symptoms of Marfan Syndrome

Marfan Syndrome is a disorder innate from birth. However, this syndrome is often only detected when entering adolescence. Some of the signs and symptoms that are often experienced by people with Marfan syndrome are:

1. Disproportionate posture r sional

A person suffering from Marfan syndrome generally has a tall and thin physique. It's just that the arms, legs, and fingers, look disproportionate or too long for their body size.

In addition, some sufferers may also have bone disorders, such as scoliosis or curved backbone. There are even those whose breast bones do not develop perfectly, which are protruding outward or concave inward.

2. Irregularly growing teeth

In addition to disproportionate posture, sufferers of Marfan syndrome also have dental problems. The teeth of people with Marfan syndrome usually grow irregularly, and even tend to overlap.

3. Having frequent eye disorders

People with Marfan syndrome often suffer from eye disorders. If only 1 in 6 sufferers of Marfan syndrome experience dislocation of the lens (lens shifts) in one eye or both eyes. Some of them also suffer from nearsightedness, cataracts, and glaucoma.

4. Heart and blood vessel disorders

About 90% of Marfan syndrome sufferers suffer from impaired heart and blood vessel function. One type of heart disorder that is often experienced is aortic dissection. This condition can cause bleeding in the walls of blood vessels which can be fatal and cause death.

5. Lung function that is not optimal

Marfan's syndrome can also cause the lungs to not function normally. This happens because of changes in lung tissue. In addition to dysfunction, Marfan syndrome sufferers are also more at risk of suffering from asthma, pneumonia, bronchitis, and chronic obstructive pulmonary disease (COPD).

Marfan syndrome sufferers need to see their doctor regularly. Appropriate treatment can improve the quality of life of sufferers of this syndrome, including minimizing the risk of serious complications that can be life threatening.

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