Joints, organs and blood vessels throughout the body count on connective tissues for support and proper function. When people have Marfan syndrome, the body can't build these tissues quite right.
The syndrome can cause mild to severe problems in many parts of the body. Fortunately, treatment can help keep symptoms under control.
Who gets it?
Marfan syndrome affects about 1 in 5,000 Americans, according to the March of Dimes. It may occur in men or women of any racial or ethnic group.
Though people are born with the condition, Marfan syndrome may not be diagnosed until well into the adult years.
People with Marfan syndrome have a 50% chance of passing on the disorder to a child, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Less often, a child may be born with Marfan syndrome even though neither parent has it.
What causes it?
Marfan syndrome results from an abnormal gene. The gene affected by the disorder helps produce fibrillin, a protein essential for the strength and elasticity of connective tissue.
When the gene is abnormal, fibrillin may be made incorrectly or in the wrong amount. When fibrillin isn't made properly, connective tissue can't be made properly.
What are the symptoms?
According to the NIAMS, body systems commonly affected by Marfan syndrome include:
The skeleton. People with Marfan syndrome tend to be very tall, slender and loose-jointed. The fingers, arms and legs may be unusually long in relation to the body. Other symptoms may include a long and narrow face, a curved spine, flat feet and a breast bone that sticks out or looks caved in.
The eyes. Marfan syndrome increases the risk of detached retinas, nearsightedness, cataracts (clouding of the eye), glaucoma (high pressure in the eye) and dislocated lenses in the eyes.
The heart and blood vessels. Marfan syndrome weakens the walls of the major arteries in the heart, making them more likely to tear or rupture. It can also harm the valves in the heart. As a result, the valves may leak. Large leaks may cause shortness of breath, fatigue and an irregular heartbeat.
Marfan syndrome may also affect the nervous system, skin and lungs, according to the NIAMS.
How is it found?
No specific test will show a doctor whether a person has Marfan syndrome. The diagnosis is usually based on a physical exam, tests on the heart and eyes, and a family history.
How is it treated?
Marfan syndrome can't be cured, but most of the symptoms can be managed if the disease is detected early.
Managing Marfan syndrome may require:
- Regular exams of the skeleton, eyes and heart.
- Physical therapy, a brace or surgery to correct a curve in the spine.
- Eyeglasses, contact lenses or surgery to correct eye problems.
- Medicines or surgery to relieve stress on the heart or strengthen the arteries.
- Counseling to help with social and emotional stress.
Reviewed 7/26/2023