Marfan Syndrome : Causes, Diagnosis, Treatment

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Marfan syndrome is a group of genetic diseases that make connective tissue or tissue responsible for maintaining the structure of the body becomes disrupted. Marfan syndrome is a rare disease with the percentage of cases of about 0.03 percent. The severity of this disease varies from mild to severe complications.

People with Marfan syndrome can be identified from its physical characteristics, namely:

Tall and thin body are not normal.
Spine curving abnormally.
Chest protruded or sunken into.
Dental stacked irregularly.
The lower jaw is small.
Sunken eyes.
Toes and fingers are long and slender and are not proportional to the length of the arm.
Great shape and flat feet.
The joints are weak or frail.
Stretch marks or signs of wrinkles on the shoulder, lower back and pelvis that will fade and turn into a silvery color over time.
People with Marfan syndrome may also experience eye lens dislocation or shift the position of the eye lens to a place that is not normal that interfere with vision. In addition to lens dislocation, other eye diseases that can be experienced by people with Marfan syndrome are a cataract, glaucoma, nearsightedness (myopia), and retinal detachment.

People with Marfan syndrome may also experience a shift in one part of the spine is slightly ahead or behind. This condition is called spondylolisthesis and can cause symptoms of lower back pain and stiffness of the back muscles. Besides spondylolisthesis, scoliosis can also be experienced by people with Marfan syndrome in which the spine curves to the side. If severe, this arch can suppress lung and heart, causing shortness of breath.

Problems in the area of the spine more in people with Marfan syndrome is dural ectasia in which the membrane lining the spinal marrow expands and compresses the spinal cord. This condition can cause symptoms of pain in the back, legs, and head, as well as numbness in the feet.

Disorders of the cardiovascular system can also occur in people with Marfan syndrome. One of them is the valve that controls blood flow between the chambers of the heart become leaky or does not close properly when the heart beats. Also, it can also occur rupture of the main artery (aorta) that lead to internal bleeding.

Causes Marfan Syndrome

Marfan syndrome is caused by damage to a gene responsible for producing a particular protein. The presence of this gene defect was causing protein called fibrillin produced abnormally. As a result, some parts of the body becomes supple unusually, and bones grow uncontrollably. Damage to this fibrillin gene also causes some bones Marfan syndrome grow long.

Most of the cases of Marfan syndrome occurs due to hereditary factors, meaning that the child will inherit this syndrome when one of the parents suffering from the same condition (autosomal dominant). But there are also cases of Marfan syndrome is not because of heredity, even though it's rare, about 1 out of 4 cases. This is caused by mutates fibrillin gene present in the father's sperm or egg cells in the mother, making the fetus in utero bring Marfan syndrome.

Marfan Syndrome Diagnosis

Marfan syndrome can not be diagnosed just by doing genetic testing alone and need detailed investigation. In addition to the doctors need to see physical signs of patients and know family medical history, further examination, such as eye exams to see their vision problems (dislocation of the lens, cataract, glaucoma, and low vision) and MRI scans to look at the issue in the lower spine , need to be applied.

In addition to eye exams and MRI scans, doctors can perform the examination electrocardiogram (EKG) to measure heart rhythm and an echocardiogram to look for swelling or damage to the aorta.

Treatment of Marfan Syndrome

Marfan syndrome is a condition that is not treatable. Step treatment is only aimed at reducing the impact of a variety of symptoms. The first example is a problem in the eye. If Marfan syndrome sufferers experience eye problems, provision of glasses or contacts lenses may help overcome vision problems. Eye lens replacement surgery with mock lenses can also be done. For cases of glaucoma where the eye pressure, treatment can be done with eyedrops, surgery, or laser treatment, although all of these methods it is only hold to avoid deterioration and does not bring it back up to 100 percent. For the case of cataracts, the cloudy lens replacement surgery with mock lenses can be done.

Marfan syndrome can also make the joints sore. In this case, treatment can be performed with analgesics (paracetamol or nonsteroidal anti-inflammatory drugs / NSAIDs), installation of joint braces, and physical therapy is suitable to restore the bones.

For heart problems, when the degree is still small, doctors usually prescribe beta blockers (beta-blockers) or other drugs such as losartan, irbesartan or to weaken the strength of the heartbeat. It also will help slow down the process of aortic widened. However, if the severity is already quite severe and potentially life-threatening patients with Marfan syndrome, it is advisable to perform surgery, for example, is part of the aorta replacement surgery swelling.

In patients with Marfan syndrome, the breastbone (sternum) can protrude to the outside or curved inward. Breastbone was sticking out usually do not need to be addressed because most do not cause any health problems. Instead, bone curved inward (concave) needs to be improved because it can suppress the lungs and interferes with breathing. Treatment for this condition is surgical removal of the position of the sternum and the ribs in place, then supported it with a pin made from metal.

For scoliosis, treatment can be carried out with a spinal corset curvature if the level of the bone is not too severe, especially in young children who are still growing. If the level is the grave curvature of the spine (usually above 40 degrees), then it can be recommended with surgery to realign the bones. You need to know that the spinal surgical repair is major surgery that may cause side effects, such as blood clots, infection, and even nerve damage. Therefore, think carefully and consult first with a doctor before doing so. Also, the physical you will take at least a year to recover from this surgery.

If you suffer from Marfan syndrome, physical activity, you need to be readjusted. You are advised to avoid some sports that can increase heart rate and blood pressure to prevent damage to the aorta. Forms are advised to avoid activities that are climbing, distance running, weightlifting, tennis, football, rugby, and gymnastics. In addition to the aortic defect, type of exercise is also potentially damaging to joints Marfan syndrome is weak.

Prognosis Marfan Syndrome

Prognosis is the term used to describe the prediction of a patient's condition in the future. Before drugs and treatment methods Marfan syndrome becomes more advanced as it is today, there is rarely patients can live beyond the age of 40 years (an average of only up to 32 years). But now, most people could have a chance to live longer and live life as active as ordinary citizens through prompt diagnosis and treatment performed by a specialist long-term related.

Tags : disease

Marfan Syndrome : Causes, Diagnosis, Treatment