Marfan syndrome is an inherited connective tissue disorder that affects normal body growth. Connective tissue provides support for your skeletal structure and all the organs of your body.
Any disorder that affects your connective tissue, such as Marfan syndrome, can affect your entire body, including your organs, skeletal system, skin, eyes, and heart.
Obvious physical characteristics of this disorder include:
- being tall and lanky
- having loose joints
- having large and flat feet
- having disproportionately long fingers
This disorder occurs among people of all ages and races. It’s found in both men and women. According to the Marfan Foundation, the syndrome occurs in about 1 in 5,000 people.
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 your bones 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 (sternum) that sticks out or caves inward
- crowded teeth (caused by an arch in the roof of the mouth)
Heart and blood vessels
The more invisible symptoms occur in your heart and blood vessels. Your aorta, the large blood vessel that transports blood from your 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’re having chest pains, breathing problems, or an uncontrollable cough.
People with Marfan syndrome often have eye problems. About 6 in 10 people with this condition have “partial lens dislocation” in one or both of their eyes. Becoming severely nearsighted is also common.
Many people with this condition need eyeglasses or lenses to correct vision problems.
Finally, early-onset cataracts and glaucoma are also much more common in people with Marfan syndrome when compared to the general population.
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 your connective tissue. The defect also causes overgrowth in bones, resulting in long limbs and significant height.
There’s a 50 percent chance that if one parent has this disorder, their child will also have it (autosomal dominant transmission).
However, a spontaneous genetic defect in their sperm or egg can also cause a parent without Marfan syndrome to have a child with this disorder.
This spontaneous genetic defect is the cause of about 25 percent of cases of Marfan syndrome. In the other 75 percent of cases, people have inherited the disorder.
Your healthcare provider will typically begin the diagnostic process by reviewing your family history and conducting a physical exam.
They can’t detect the disease through genetic testing alone. A complete evaluation is necessary. It typically includes an examination of your skeletal system, heart, and eyes.
Typical exams include:
- a magnetic resonance imaging (MRI) test, commuted tomography (CT) scan, or X-ray, which can be performed in some people to look for lower back problems
- an echocardiogram, which is used to examine your aorta for enlargement, tears, or aneurysms (bubble-like swelling due to weakness in the artery walls)
- an electrocardiogram (EKG), which is used to check your heart rate and rhythm
- an eye exam, which allows your healthcare provider to examine the overall health of your eyes, to test how accurate your sight is, and to screen for cataracts and glaucoma.
Marfan syndrome can’t be cured. Treatments typically focus on lessening the impact of various symptoms.
Your aorta becomes larger in this condition, increasing your risk for many heart problems. It’s essential that you regularly consult with a heart specialist.
If problems exist with your heart valves, medications such as beta-blockers (which reduce blood pressure and heart rate) or replacement surgery may be necessary.
Bones and joints
Annual checkups help to detect spine or breastbone changes. They’re especially important for fast-growing adolescents.
Your healthcare provider may prescribe an orthopedic brace or recommend surgery, especially if rapid growth of your skeletal system is causing heart and lung problems.
Regular eye exams help to detect and correct vision problems. Your eye doctor may recommend eyeglasses, contact lenses, or surgery, depending on your condition.
You’re more at risk of developing lung problems if you have this disorder. This is why it’s important not to smoke.
If you have breathing problems, sudden chest pain, or a persistent dry cough, call your healthcare provider immediately.
Given the many different possible complications related to the heart, spine, and lungs, people with Marfan syndrome are at higher risk for a shorter lifespan.
However, regular visits to your healthcare provider and effective treatments can help you survive into your 70s and beyond.
Check with your healthcare provider 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.
You can undergo genetic counseling before having children if you have Marfan syndrome.
However, about one-quarter of Marfan cases result from spontaneous gene defects, making it impossible to predict and prevent the disease entirely.
To prevent potential pregnancy complications that result from the disease, seek medical attention and have regular checkups.