Marfan Syndrome – What is it, Symptoms and Treatments

Marfan Syndrome – What it is, Symptoms and Treatments we need to know. Also, Marfan Syndrome  is a condition in which the connective tissues in the body are abnormal. Connective tissues help support all parts of the body. They also help control how the body grows and develops.

Marfan syndrome

Marfan syndrome most often affects the connective tissues of the heart and blood vessels, eyes, bones, lungs, and spinal cord covering. Since Marfan Syndrome affects many parts of the body,  Marfan Syndrome  can cause various complications and sometimes the complications can be life threatening.

Causes of Marfan Syndrome: Marfan  Syndrome is a genetic disorder. A mutation in the gene that controls how the body makes febrilin causes Marfan Syndrome . Febrilin is a protein that plays a major role in the body’s connective tissues.

Most people with Marfan Syndrome have inherited it from their parents. If you have Marfan Syndrome , you have a 50% chance of passing the altered gene on to each of your children. In about 1 in 4 cases, the mutation that causes Marfan Syndrome is not inherited.

Symptoms of Marfan Syndrome: Symptoms of Marfan Syndrome tend to vary greatly from patient to patient, even if they belong to the same family. Not all people diagnosed with Marfan Syndrome have all the characteristic clinical manifestations, which can mainly affect the connective tissue of three systems of our body:

Skeletal System:

  • tall stature;
  • Scoliosis ;
  • Elongated arms, legs, hands and fingers (arachnodactyly);
  • Thoracic deformity;
  • Flat foot;
  • Curvature of the spinal column;
  • Dental crowding.

Cardiac System:

Eye System:

Diagnosing Marfan Syndrome:  As the symptoms of Marfan Syndrome  tend to vary in each patient, diagnosing Marfan Syndrome is a challenge for doctors. For this, it is necessary that the person has a specific set of symptoms of Marfan Syndrome , in addition to a family history of Marfan Syndrome .

What is Marfan Syndrome

There are some tests that help the specialist when defining the diagnosis of Marfan Syndrome , they are:

  • Echocardiogram, to check the condition of the heart valves and aorta;
  • Imaging tests such as magnetic resonance and computed tomography;
  • This eye pressure, to check for the presence of glaucoma;
  • Slit lamp examination to check for retinal detachment, cataracts, or lens dislocation;
  • Genetic tests, as a last resort, when the results of other tests are not sufficient.

Treatment of Marfan Syndrome:  Treatment of Marfan Syndrome does not cure the disease, but it helps to reduce the symptoms of Marfan Syndrome in  order to improve the quality of life of patients and aims to help minimize spinal deformities, improve joint movement and reduce the possibility of dislocations.

Therefore, patients with Marfan Syndrome should have regular examinations of the heart and blood vessels, and take medications such as beta-blockers or ACE inhibitors to prevent damage to the cardiovascular system. In addition, surgical treatment may be necessary to correct lesions in the aorta artery, for example.

Useful links: 

Note: When Marfan Syndrome is not properly treated, it can cause several complications, as it affects several parts of the body.

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