What Is Marfan Syndrome?

Dr. Antoine Marfan first described the Marfan syndrome. Marfan syndrome is a disorder

that is hereditary. This disorder affects the bodys connective tissues. The defect is in the production of fibrillin. Fibrillin is a component of a connective tissue. Problems in different parts of our body may arise due to the weakened connective tissues. Parts that may be affected are the eyes, heart and joints.

This disorder only happens in 1 person for every 5,000. This is a very rare case and though it cannot be cured. The symptoms can be. This prolongs the lifespan of the person diagnosed with the disease.

The problem with Marfan syndrome is found in the chromosome 15. A mutation happens there which caused the problem with the production of fibrillin. Marfan syndrome affects both girls and boys of all races. Children whose parents have marfan disease have a fifty percent chance of inheriting the disease. There is a seventy five percent chance that the mutated chromosome is passed down to your offspring. The remaining twenty-five percent depends on the development of the embryo in the uterus.

Common signs and symptoms of Marfan syndrome are as follows:

Skeletal symptom- People with Marfan syndrome are most of the time taller than their peers. They have loose joints and the arms, legs and fingers may be too long in relation to the other body parts. The breastbone may also stick out or may be depressed. Scoliosis may also present as well as flat feet.

Eyes- Both lenses of the eye may be dislocated in patients with Marfan syndrome. Patients with this disorder may also be nearsighted. They may also develop glaucoma and cataracts. Retinal detachment is a possible complication to this disorder.

Cardiovascular system- Faulty connective tissues makes the wall of the arteries weak. This results to weakened and stretched aorta. Leaks may also happen in the aorta and in the valves of the heart. A heart murmur can be heard once this happens. Small leaks may not display any noticeable symptoms, but if the leak is big, symptoms like fatigue, palpitations and shortness of breath.

Nervous system- People affected with marfan syndrome may develop a condition called dural ecstasia. This happens because the dura that surrounds the spinal cord and brain weakens as Marfan syndrome progress. The weight then begins to wear away the bone around the spinal cord. It causes little discomfort or sometimes, the patient experiences pain that is radiated to the stomach area. Numbness and weakness of the legs may also happen.

Integumentary system- Stretch marks on the skin are visible on patients with this disease. They appear even without weight change. It does not really affect the health of the person. Hernia is also common to patients of this disorder. Hernia is the bulging in the inguinal or abdominal area and it contains some parts of the intestines.

Pulmonary system- The tiny air sacs of the lungs are made of connective tissues. So if the pulmonary system becomes affected and the air sacs get swollen and less elastic, then this may result to lung collapse. People with marfan syndrome also exhibits some breathing disorders during sleep like snoring and apnea.

The symptoms discussed may or may not appear together. The severity may also vary. If you think you are affected of this disease, especially if it is in your family history, you should immediately refer it to a doctor.

by: Lam Seina

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