A gene defection that makes your body produces a protein that gives connective tissue its strength and elasticity is the main cause of Marfan syndrome. It’s hereditary.
A person who has a Marfan syndrome inherits the abnormality from his parents or other members of the family. There is a 50-50 chance that a child will have Marfan syndrome if one of his parents has the same disorder.
A new mutation develops if the person who has Marfan syndrome did not get it from either of his parents, only 25 percent of the people may have this kind of mutation.
4 Making a Diagnosis
Marfan syndrome diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue disorders.
Marfan syndrome can affect your different parts of your body so you have to go see a physician or a medical specialist specializing in this kind of abnormality.
These are the specialists that you need to visit:
A cardiologist that specializes in blood vessel disorders and heart conditions,
an ophthalmologist that specializes in the disorders of the eyes,
an orthopedist that specializes in skeleton problems,
a geneticist that specializes in genetic disorders.
Visit these specialists and write down the questions that you want to ask as well as the information that they might need.
What are the symptoms? Describe your symptoms to them. They may also ask what are your medical history and the medical history of your family members. Write down the supplements and the medications and vitamins that you are taking every day.
Your doctors will ask a lot of questions, they will want to hear if any of the members of your family has experienced Marfan syndrome. This disorder can be challenging to doctors because there are similar symptoms and signs of the connective tissues in our body.
To confirm a diagnosis of Marfan syndrome, certain combinations and family history must be present. Sometimes a person who has Marfan syndrome may have some features of the disorder but there is not enough to be diagnosed with Marfan syndrome.
There will be heart exams if your cardiologist thinks that you have Marfan syndrome and the first test that you will undergo is the echocardiogram. It uses sound waves to capture the images of your heart in motion and it checks the condition of the valves of your heart as well as the size of your aorta.
Other tests may include computerized tomography CT scans and magnetic resonance imaging or MRI. There will also be eye exams like slit lamp exam which checks your lens dislocation, a detached retina or cataracts, eye pressure test to check for glaucoma and genetic testing.
If you feel like talking to a genetic counselor before starting a family so that you may know if your children will inherit your Marfan syndrome.
There is no cure for Marfan syndrome, the doctors will just provide you with treatments to prevent different complications due to the abnormality.
Doctors may prescribe the use of blood pressure lowering drugs so that the aorta will not become big and to reduce the risk of rupture and dissection.
Nowadays, a person can have a normal lifespan because of modern medicines and with regular monitoring.
One of the medications that are used today is the beta blockers which makes your heart beat slowly and with minimum force, you can also use losartan.
For children that have Marfan syndrome, a custom-made back brace may be recommended in which they have to wear every day until they are completely grown.
6 Lifestyle and Coping
Lifestyle modifications are necessary in order to cope with Marfan syndrome.
Avoid competitive sports if you have an aortic rupture or high blood pressure. You should go with not so competitive sports such as walking, bowling or golf.
Having this kind of disorder is very difficult most especially with children. Be patient with them; explain to them what is happening in their body.
A person who has Marfan syndrome may have difficulty in school or in his workplace, some may be the cause of eye problems.
If you are experiencing this, you may use contact lenses or glasses. We should provide moral and emotional support to these people.
7 Risks and Complications
There are several risks and complications associated with Marfan syndrome.
Men and women are equally affected by this Marfan syndrome and can be seen in all ethnic groups and races. This is a hereditary or genetic condition.
The worst effect of the Marfan syndrome is in the blood vessels and heart. A person with Marfan syndrome is more likely to have problems with their heart valves and higher blood pressures which can lead to heart failure.
Rupture may be fatal. Abnormalities in the skeletal system such as scoliosis. Back pain and foot pain are complications too of the Marfan syndrome.
It can also be fatal if a woman is pregnant because it may pump more blood causing extra stress on the woman’s aorta.
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