Treatments For Managing Marfan's Syndrome

Marfan's syndrome is an inherited condition that affects connective tissue throughout the body. Both men and women can inherit this disorder, and it is diagnosed in approximately one out of every five thousand individuals. The heart, bones, eyes, and blood vessels are some of the most common areas impacted by the illness. Physical features of Marfan's syndrome include having long arms, fingers, and legs, flexible joints, a curved spine, and a chest that is concave or protrudes in an abnormal way. Genetic testing can be performed to confirm a diagnosis of Marfan's syndrome, and patients may also need special eye or heart tests to detect damage to these areas. Patients with Marfan's are monitored closely by their medical teams throughout their lives, and modern treatments have made it possible for patients to have a normal or near-normal life expectancy.

The treatments outlined below are useful for many Marfan's syndrome patients.

Glasses Or Contact Lenses

Vision problems are one of the most common symptoms of Marfan's syndrome, and glasses or contact lenses can help patients with reading, driving, and other daily activities. Many patients with this syndrome have severe nearsightedness, and some patients may develop a dislocated lens in the eye or a detached retina. Patients with Marfan's syndrome may also develop glaucoma (elevated eye pressure) or cataracts at an earlier age than individuals without this illness. Glasses or contact lenses can be used to help individuals with these conditions see more clearly, and they will also reduce the eye strain and headaches that may accompany nearsightedness and glaucoma. Marfan's syndrome patients may need to have their prescription for glasses or contacts updated more than once a year, and an ophthalmologist can recommend the most appropriate glasses and contacts for the patient's needs.

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Scoliosis Treatment

Many patients with Marfan's syndrome have a curved spine, also known as scoliosis. The degree of curvature in the spine can vary from mild to severe. Patients may notice one shoulder is higher than the other, and they may observe that their waist is uneven or their hips are not properly aligned. Scoliosis is most effectively diagnosed and treated by an orthopedist, a doctor who specializes in the skeletal system. To assess a patient for scoliosis, the orthopedist will visually inspect and feel the spine, ribcage, shoulders, and hips to detect any abnormalities. They may also check reflexes, range of motion, and strength. X-rays and other imaging tests may be needed to confirm a diagnosis. In severe cases, scoliosis can cause breathing problems, and patients may experience chronic back pain. In moderate cases, patients may wear a brace that fits around the ribcage, lower back, and hips. Typically, patients are asked to wear the brace both during the day and at night, and it can be removed for physical activity. While the brace cannot correct an existing curve in the spine, it will prevent the curve from increasing. Surgical interventions, including spinal fusion, can reduce the curve of the spine, and these operations are appropriate in advanced cases of scoliosis.

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Blood Pressure Medication

Patients with Marfan's syndrome generally experience changes in blood pressure. Some patients will experience high blood pressure, and this can make aortic aneurysms expand, increasing the risk of a dangerous rupture. Doctors recommend patients with this syndrome keep their blood pressure lower than 130/80, and blood pressure medication, including ACE inhibitors and beta blockers, can be helpful with this. The majority of Marfan's syndrome patients actually have low blood pressure, and this can increase the risk of dizziness and fainting. In addition to taking blood pressure medication, patients are encouraged to engage in healthy behaviors that may keep blood pressure within normal limits. These include maintaining normal cholesterol levels, eating a plant-based diet, exercising regularly at a moderate intensity, and abstaining from smoking. Patients are encouraged to keep their resting heart rate below seventy beats per minute, and they may wish to monitor their blood pressure and pulse at home. Marfan's syndrome patients will likely be under the care of a cardiologist, who will carry out regular heart health checks that may include echocardiograms and electrocardiograms.

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Aortic Repair

An aortic repair is a surgical procedure that can correct an aortic aneurysm, one of the most common complications associated with Marfan's syndrome. An aortic aneurysm is a bulge in the aorta, a major blood vessel that transports blood from the heart to the rest of the body. An aortic repair removes the bulging area of the aorta, replacing it with a specialized fabric tube. This operation takes place under general anesthesia, and it can be performed as an open procedure or as an endovascular procedure. The open procedure may take between two to six hours, and patients may need to stay in the hospital for one week to recover. While the endovascular procedure takes less time and requires one or two days of hospital recovery time, certain types of aneurysms can only be repaired using the open surgery method. For both procedures, patients need between four to six weeks of additional recovery time after returning home.

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Avoid Competitive Sports

Marfan's patients who have an aortic aneurysm or other heart problems are normally advised to avoid competitive sports. Participating in such activities raises the risk of being forcefully hit, which could cause a life-threatening aortic dissection, rupture, or other complication. While competitive sports are best avoided, cardiologists generally encourage Marfan's syndrome patients to participate in light exercises such as swimming, walking, yoga, or dancing. While exercising, the patient should carefully monitor their heart rate. Doctors advise Marfan's syndrome patients to avoid rapid movement of the chest and rotation of the body against resistance. If patients engage in strength training exercises, they should lift no more than half of their body weight.