What is Marfan Syndrome?
Marfan syndrome is said to affect the connective tissues. Connective tissues are the ones that provide support to the other organs and tissues. This syndrome is the genetic condition that can impact the various parts of the human body like heart, blood vessels, skin, bone, etc.
In some cases, the effects of the syndrome can be life-threatening and can damage the heart valves or aorta but do not affect the cognitive ability. It is said to affect 1 out of every 5000 people. Though there is no cure for the Marfan Syndrome, its symptoms can be relieved by a proper therapy.
Marfan Syndrome Symptoms
The symptoms of Marfan syndrome can be different in different people. In some people, the symptoms can be mild but in some people, the symptoms can be severe. The symptoms can tend to worsen with age. Here are a few symptoms that might appear –
- Weakness in the wrist
- Extremely flexible joints
- Extreme pain in joint, muscle, or bones
- Tall and slim body
- Weight gain and stretch marks
- Stooped shoulders
It may also lead to glaucoma and cataracts. You can contact an ophthalmologist for the same. Also, it may lead to various cardiac issues like –
- Fatigue or tiredness
- Shortness of breath
- Pain in the chest area
In case you find any of these symptoms, it is recommended to contact a doctor as soon as possible.
Marfan syndrome risk factors
Marfan syndrome can affect both men and women equally and people of all races. Since it is a genetic condition, the biggest risk is having parent with Marfan syndrome.
Causes of Marfan Syndrome
It is a genetic condition and can be passed by the family through the genes. There are 50% chances that parents can pass it onto the children. But around 25% of the patients have no family background. This is a spontaneous mutation. The gene that carries this syndrome is known as FBN1, which provides protein that provides strength to the connective tissue. This helps the body to move.
Without these, it becomes difficult to move and the connective tissue becomes less able to support the various organs and parts of the body. These can be the main Marfan syndrome causes.
Diagnosis of Marfan syndrome
The diagnosis can be a bit difficult but the doctor can diagnose it by knowing the patient’s family and medical history, heart rate, stretch marks on the skin, length and features of the body parts. Also, the diagnosis can be difficult in the child, but it can be easily done when the child turns into an adult. Various Marfan syndrome diagnosis tests can be done by the physician to confirm the diagnosis.
Marfan syndrome treatment
There is no specific Marfan syndrome cure but proper treatment can minimize or relieve the symptoms of the disease. The doctor can do a personalized treatment according to the body parts and organs affected by the patient.
The patient is regularly monitored to prevent any further problems or complications in the bone, tissue, or muscle. This is done by recognizing the problem at an early stage when the child is growing.
Also, regular eye check-ups should be done in order to ensure that the vision is proper and any problem, if arises, can be detected.
Marfan Syndrome can’t be completely cured but can be lessened with the treatment and medications. For cardiovascular treatment, it is important to consult a heart specialist for the aorta treatment. If doctors find it suitable, then you will either be prescribed beta-blockers (medicine for Marfan Syndrome), that reduces the blood pressure and heart rate in the body, or replacement surgery.
Marfan Syndrome patients are at more risk of having lung problems. They are strictly prohibited from smoking.
Marfan Syndrome Prevention
However, there is no such way to prevent marfan syndrome. But for the couples who are planning to have a baby and know that there is a risk of this syndrome, should consult a genetic counsellor.
About 25% of the Marfan Syndrome patients develop this problem due to spontaneous gene defection. Therefore it makes the people late in catching the disease and since every organ of the body is at risk, it can lead to short lifespan.
Even if you can’t prevent it from occurring, you can comfortably live with the disease like other normal people by adding some precautions to your life. You need to consult with your doctor before engaging in any physical activity.
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