Marfan Syndrome

Marfan syndrome develops when the gene that produces protein to make the connective tissues elastic is defective. This could cause problems in the skeletal system, cardiovascular system, nervous system and other organs in the body. Majority of those who are afflicted have a family history of the syndrome, while a few develop the syndrome because of random genetic mutation. Since several systemic functions are affected, complications will likely happen if the condition is ignored or left untreated for a long time.

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Individuals with Marfan syndrome are treated based on the severity of the symptoms and the degree of systemic functioning affected. A multidisciplinary team of doctors will work together in designing the most appropriate treatment plan for the patient. This may involve a cardiologist, an ophthalmologist, an orthopedist and a geneticist. The treatment can help the patient by relieving the symptoms and preventing further complications from arising.

Causes

The syndrome develops because the gene that is involved in producing fibrillin-1 is faulty. Fibrillin-1 is a type of protein that strengthens and makes the connective tissues elastic. Connective tissues are fibers that provide shape to different parts of the body and hold them together. A defect in the gene that produces fibrillin-1 hinders the connective tissues from serving their function.

Anyone can suffer from the syndrome, regardless of race, gender and ethnic background. There are two conditions that can give rise to Marfan syndrome, and these are:

  • Inherited defective gene

A person can receive the defective gene from one of his or her parents. In fact, this comprises most cases of Marfan syndrome since the parent with the defective gene has a 50% chance of passing it to the offspring. 

  • Random genetic mutation

The defective gene could be the result of random changes in the genetic material during conception. About 1 out of 10,000 births or equivalent to 25% of Marfan syndrome cases is a consequence of this cause.

Symptoms

The connective tissues are important for the skeletal, cardiovascular and nervous systems as well as other organs in the body. That is why when connective tissues do not function as they should, problems arise on any part of the body where these tissues are found.

  • Skeletal system

Individuals afflicted with the syndrome typically have long and slim physique, flat feet, loose joints, indented breastbone, curved spine, crowded teeth, narrow face, and disproportionate limbs, toes and fingers. 

  • Cardiovascular system

A defective connective tissue brings a wide array of problems to the heart. It could stretch and weaken the heart valves and cause heart murmur which results in heart palpitations, breathing difficulties and fatigue. The aorta may become stretched and weakened and give way to life-threatening aortic dissection. 

  • Nervous system

Connective tissues surround the spinal column and brain through a membrane known as dura. Abnormal connective tissues cause the dura to swell and become weak. This could put undue stress on the lower spinal column, slowly destroying the bone surrounding the spine causing discomforting pain and leg weakness. 

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  • Lungs

Problems with connective tissues can cause the air sacs in the lungs to become less elastic, thus, swell over time. This predisposes the patient to lung-related problems, like emphysema and lung collapse and sometimes heavy snoring and sleep apnea. 

  • Skin

The syndrome also results in unexplained stretch marks all over the body. This may not be totally worrisome but other health problems might occur as a result of defective connective tissues, like abdominal hernia. 

  • Eyes

Eye problems or abnormalities, such as cataracts, myopia, glaucoma and detached retina are common among people with Marfan syndrome. The lens in one or both eyes may be displaced. This dislocation is minimal in some and more pronounced in others.

It should be noted that the nature of expression of the defective gene in Marfan syndrome is variable, which means that the symptoms and their severity differ in every person, even among family members. The syndrome could lead to potentially life-threatening complications like:

  • Scoliosis
  • Cataracts or glaucoma
  • Valve malformations
  • Aortic dissection or aneurysm

Treatment

The syndrome can have a huge impact not only on the patient but on the patient’s family as well. It could greatly affect the financial and social status of the family. The syndrome could bring mixed emotions of sadness, fear, anger and guilt. Treating the condition is essential as it can aid the patient and his or her family in dealing with the financial, social and emotional setbacks caused by the syndrome. Treatment is geared towards addressing the specific symptoms suffered by the patient, as well as in preventing complications from occurring. This may involve medications, therapies and even surgery.

Living with Marfan syndrome is not easy but with the right treatment and strong family and social support, the patient and his or her family can live a normal life. 

 Marfan Syndrome Pictures

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