What Is Marfan Syndrome?
Marfan syndrome is an inherited connective tissue disorder that affects normal body growth. Connective tissue provides the support for the skeletal structure and all organs of the body. Any disorder that affects your connective tissue (such as Marfan Syndrome) will impact your entire body, including your organs, skeletal system, skin, eyes, and heart.
Visible characteristics of this disorder include being tall and lanky and having loose joints, large feet, and spider-like fingers. This disorder occurs among people of all ages and races, and is found in both genders. According to the National Marfan Foundation, the syndrome occurs in about 1 in 5,000 people (NMF).
What Causes Marfan?
Marfan syndrome is a genetic or inherited disorder. The genetic defect occurs in a protein called fibrillin-1, which plays a large role in the formation of connective tissue. The defect also causes overgrowth in bones, resulting in long limbs and significant height.
According to the Washington University Physicians, there is a 50 percent chance that if one parent has this disorder, the child will also have it. However, a spontaneous genetic defect in the sperm or egg can cause a parent without Marfan syndrome to have a child with this disorder. This spontaneous genetic defect is the cause of 30 percent of cases of Marfan syndrome. The other 70 percent inherited the disorder (Washington University).
Recognizing the Signs of Marfan
Symptoms of this disorder may show up in infancy and early childhood, or later in life. Some symptoms may worsen with age.
This disorder shows itself differently in different people. The visible symptoms occur in the bone and joints. Visible symptoms may include:
- unusually tall height
- long limbs
- large, flat feet
- loose joints
- long, thin fingers
- a curved spine
- a chest bone that sticks out or caves inward
- crowded teeth (caused by an arch in the roof of the mouth)
Heart and Blood
The more invisible symptoms occur in the heart and blood. Your aorta, the blood vessel that transports blood from the heart, may become enlarged. An enlarged aorta may cause no symptoms. However, it carries the risk of a life-threatening rupture. Seek medical assistance immediately if you are having chest pains, breathing problems, and/or a dry cough.
People with Marfan syndrome often have eye problems. Dislocation of one or both eye lenses occurs in over 50 percent of individuals with this disorder, according to the Washington University Physicians. (Washington University). Becoming severely nearsighted is also common. Many people with this condition need eyeglasses or lenses to correct vision problems. There is a higher risk for developing early glaucoma, characterized by damage to the optic nerve. There is also a risk of cataract formation, which is clouding of the eye lens.
Diagnosing Marfan Syndrome
The doctor will typically begin the diagnostic process by reviewing your family history and conducting a physical exam. You cannot detect the disease through genetic testing alone. A complete evaluation is necessary, which typically includes an examination of the skeletal system, heart, and eyes. Typical exams include:
- an echocardiogram, which is used to examine the aorta for enlargement and tears
- an electrocardiogram (EKG), which is used to check whether your heart rate and rhythm are normal
- magnetic resonance imaging (MRI) test, which is performed in some people to look for lower back problems
- an eye exam, so that your doctor can examine the overall health of your eyes and find any vision problems
Treatments for This Disorder
Marfan syndrome cannot be cured. Treatments typically focus on lessening the impact of various symptoms.
The aorta becomes larger in this condition, increasing your risk for many heart problems. It is essential that you regularly consult with a heart specialist. If problems exist with your heart valve, medications like beta-blockers (which reduce blood pressure) or a replacement surgery may be necessary.
Bones and Joints
Annual check-ups help to detect spine or breastbone changes, and they are especially important for fast-growing adolescents. Your doctor may prescribe an orthopedic brace or recommend surgery, especially if rapid growth of the skeletal system is causing problems for the heart or lungs.
Regular eye exams help to detect and correct vision problems. Your eye doctor may recommend eyeglasses, contact lenses, or surgery, depending on the problem.
If you have this disorder, you are more at risk for lung problems. This is why it is important not to smoke. Breathing problems, sudden chest pain, and/or a dry cough are reasons to seek immediate medical attention.
Living with This Disorder
Given the numerous complications related to the heart, spine, and lungs, people with Marfan syndrome run the risk of a shorter lifespan. However, regular visits to the doctor and effective treatments can help patients survive into their 70s and beyond.
Check with a doctor before engaging in strenuous sports and physical activities. Skeletal system, vision, and heart issues may make it dangerous to participate in sports like football and other contact sports. Lifting heavy objects can also cause problems, and should be avoided.
How to Reduce Your Unborn Child’s Risk for Marfan
People with this disease can undergo genetic counseling before having children. However, about one-third of Marfan cases result from spontaneous gene defects, making it impossible to predict and prevent the disease. To prevent potential pregnancy complications that result from the disease, seek medical attention and annual check-ups.