Recognize the causes and symptoms of Marfan syndrome

Marfan syndrome is a genetic disorder that causes connective tissue abnormalities. Marfan's syndrome affects various organs, such as body structure, eyes, heart, blood vessels, lungs and nervous system.

Marfan syndrome is a genetic disease that attacks 1 in 5,000 people worldwide. This syndrome can cause mild symptoms, but as we get older, Marfan syndrome can have bad health effects. Even in some cases, Marfan syndrome can cause serious life-threatening complications.
Causes of Marfan syndrome

The cause of Marfan syndrome is a gene mutation that regulates the formation of connective tissue. One protein that is disrupted is the formation of the protein fibrillin-1. Disruption of this protein will disrupt the elasticity and stability of the connective tissue that exists throughout the body.

Most cases of Marfan syndrome are a genetic disorder. So when one parent suffers from this syndrome, his children may suffer from Marfan syndrome. But in 25% of cases, Marfan syndrome results from spontaneous genetic mutations that are not affected by heredity.
 
What are the symptoms of Marfan syndrome

Marfan's Syndrome is a congenital anomaly. However, this syndrome is often detected only in adolescence. Some of the common signs and symptoms experienced by people with Marfan syndrome are:
 
1. Disproportionate posture
A person with Marfan syndrome usually has a tall and thin body size. Only the arms, legs and fingers are disproportionate or too long for their size.

In addition, some sufferers may also suffer from bone disorders, such as scoliosis or curved spine. There are even those whose breast bones do not grow properly, which protrude outward or concave inward.
 
2. Teeth grow irregularly

In addition to disproportionate posture, people with Marfan syndrome also have dental problems. People with Marfan syndrome usually have irregular growth and even tend to overlap.
 
3. Often experience eye disorders

People with Marfan syndrome often suffer from eye disorders. If only 1 in 6 patients with Marfan syndrome suffer from lens dislocation (lens flip-flop) in one or both eyes. Some of them also suffer from myopia, cataracts and glaucoma.
 
4. Disorders of the heart and blood vessels
About 90% of people with Marfan syndrome suffer from heart failure and blood vessel function. Aortic dissection is a type of heart disorder that is often experienced. This condition can cause bleeding in the walls of blood vessels, which can cause death and death.
 
5. Lung function is not optimal

Marfan syndrome can also prevent the lungs from functioning normally. This happens because of changes in lung tissue. In addition to dysfunction, people with Marfan syndrome are also at higher risk for asthma, pneumonia, bronchitis, and chronic obstructive pulmonary disease (COPD).

Patients with Marfan syndrome should consult a doctor regularly. Proper treatment can improve the quality of life of people with this syndrome, including minimizing the risk of serious life-threatening complications.

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