What Is Marfan’s Syndrome?
Marfan’s syndrome is an inherited connective tissue disorder that affects normal body growth. Connective tissue provides support for your skeletal structure and all organs of your body. Any disorder that affects your connective tissue (such as Marfan’s syndrome) will impact your entire body, including your organs, skeletal system, skin, eyes, and heart.
Obvious physical characteristics of this disorder include being tall and lanky and having loose joints, large and flat feet, and 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 one in 5,000 people.
Signs of Marfan’s Syndrome
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
The more invisible symptoms occur in your heart and blood. 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’s syndrome often have eye problems. About one in six 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’s syndrome, compared to the general population.
What Causes Marfan’s Syndrome?
Marfan’s 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’s syndrome to have a child with this disorder. This spontaneous genetic defect is the cause of about 25 percent of cases of Marfan’s syndrome. In the other 75 percent of cases, people have inherited the disorder.
Diagnosing Marfan’s Syndrome
Your doctor 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:
- an echocardiogram, which is used to examine your aorta for enlargement, tears, or aneurysms (bubble-like swelling due to weakness in the walls of the artery)
- an electrocardiogram (EKG), which is used to check your heart rate and rhythm
- a magnetic resonance imaging (MRI) test, which is performed in some people to look for lower back problems
- an eye exam, which allows your doctor to examine the overall health of your eyes, to test how acute your sight is, and to screen for cataracts and glaucoma.