Marfan syndrome is a genetic disorder that causes disorders of the connective tissue. Marfan syndrome affects a variety of organ, such as the skeleton, eyes, heart, blood vessels, lungs, and nervous system.
Marfan syndrome is a genetic disorder that occurs in 1 in 5,000 people worldwide. This syndrome can cause mild symptoms, but with age, Marfan syndrome can have a bad effect on health. Even in some cases, Marfan syndrome can cause serious complications that can be life-threatening.
Causes of Marfan Syndrome
The cause of Marfan syndrome is a mutation in a gene that regulates the formation of connective tissue. One of the proteins that is disturbed in its formation is the protein fibrillin-1. Disturbances in this protein will cause disturbances in the elasticity and stability of connective tissue throughout the body.
Most cases of Marfan syndrome are genetic disorders that are inherited. So, when one parent has this syndrome, the offspring are at risk for Marfan syndrome. However, in 25% of cases, Marfan syndrome occurs due to spontaneous genetic mutations that are not influenced by heredity.
Marfan Syndrome Symptoms
Marfan syndrome is a congenital disorder 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. Posture that is not proportionalrsional
A person suffering from Marfan syndrome generally has a tall and thin body stature. It's just that, the arms, legs, and fingers, look disproportionate or too long for her size.
In addition, some sufferers are also likely to have bone disorders, such as scoliosis or a curved spine. There are even those whose breastbones are not fully developed, namely protruding outward or concave inward.
2. Teeth grow irregularly
In addition to a disproportionate body posture, people with Marfan syndrome also have dental problems. The teeth of people with Marfan syndrome usually grow irregularly, and even tend to pile up.
3. Often have eye problems
People with Marfan syndrome often suffer from eye disorders. Approximately 1 in 6 people with Marfan syndrome experience a dislocation of the lens (lens shift) 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 people with Marfan syndrome suffer from impaired heart and blood vessel function. One of the most common types of heart problems is aortic dissection. This condition can cause bleeding in the walls of blood vessels which can be fatal and cause death.
5. Pulmonary function is not optimal
Marfan syndrome can also cause the lungs to not function normally. This occurs because of changes in lung tissue. In addition to impaired function, people with Marfan syndrome are also more at risk of suffering from asthma, pneumonia, bronchitis, and chronic obstructive pulmonary disease (COPD).
People with Marfan syndrome need to regularly see a doctor. Proper treatment can improve the quality of life of people with this syndrome, including minimizing the risk of serious complications that can be life-threatening.
