Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body. Mutations (changes) to a specific gene cause Marfan syndrome, and most people inherit the disorder from their parents.
Symptoms of Marfan syndrome can be mild to severe and vary because the condition can affect different areas of the body, including the:
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Skeleton, which includes bone and connective tissues such as ligaments, tendons, and cartilage.
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Eyes.
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Heart and blood vessels, including veins, arteries, and valves inside the heart.
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Skin.
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Lungs.
Treatment varies depending on the area of the body affected and may include medications, other treatments, and surgery to manage the condition and its complications. Research and advances in treatments and surgeries allow people with Marfan syndrome to live long, productive lives.
Frequently Asked Questions
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What are the symptoms of Marfan Syndrome?
Marfan syndrome is a genetic disorder that affects the body's connective tissue. Some of the most common symptoms of Marfan syndrome include:
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Tall, thin stature
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Curved spine
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A chest that sinks in or sticks out
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Loose and flexible joints
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Flat feet
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Eye problems such as glaucoma, nearsightedness, cataracts, lens dislocation, and retinal detachment
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Stretch marks on the skin that are not related to weight gain or loss
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Abdominal pain and Hernia in the abdomen
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Arms, legs, fingers, and toes are much longer in relation to the rest of the body.
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Headaches.
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A heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
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A highly arched mouth can lead to crowding of teeth.
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Low back pain and numbness in the legs.
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Sleep apnea
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Pneumothorax, which happens when a section of the lung collapses because the alveoli (tiny air sacs in the lungs) burst.
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Shortness of breath due to changes in the lungs or heart.
Other problems and complications can develop, including:
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Aneurysm of the aorta
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Heart valve leaking
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Weakened or stretched aorta, Damage to the aorta increases the risk of serious heart problems or even sudden death.
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Being diagnosed with one or more related conditions.
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How is Marfan Syndrome diagnosed?
Marfan syndrome can be diagnosed through a combination of a detailed medical history, physical examination, and genetic testing. No single test can diagnose Marfan syndrome. To see if you have the disorder, your doctor may:
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Ask about your family and medical history.
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Perform a physical exam.
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Order blood and imaging tests.
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Order genetic testing to look for the changed gene that causes Marfan syndrome.
The diagnosis is usually based on the presence of specific symptoms, such as a tall and thin body frame, long arms and fingers, a curved spine, and eye problems. Imaging tests such as echocardiography, CT scan, or MRI may be used to detect abnormalities in the heart, aorta, or other parts of the body.
Genetic testing can confirm the diagnosis by identifying mutations in the FBN1 gene, which produces a protein called fibrillin-1 that is essential for the proper formation of connective tissue.
Everyone has a fibrillin-1 protein, which makes elastic fibers in connective tissue. Fibrillin-1 also affects another protein in your body, transforming growth factor-beta (TGF-beta), which helps control how the body grows and develops. People with Marfan syndrome inherit a gene mutation that changes how the body uses fibrillin-1, leading to excess growth factors, which cause:
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Tissues in blood vessels, the heart, ligaments, tendons, and cartilage stretch more, making them weak.
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Overgrowth of bones, making them longer than usual.
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What treatments are available for Marfan Syndrome?
There is currently no cure for Marfan syndrome, but there are treatments available to manage the symptoms and prevent complications. Treatment is tailored to the individual's needs and may include:
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Medications: Beta blockers can be used to reduce stress on the aorta and slow the progression of aortic dilation. Other medications may be prescribed to manage symptoms such as high blood pressure, arrhythmias, and joint pain.
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Surgery: If the aorta is severely enlarged or at risk of tearing, surgery may be necessary to replace the damaged portion of the aorta with a synthetic graft.
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Lifestyle changes: Individuals with Marfan syndrome are advised to avoid strenuous exercise and contact sports to reduce the risk of aortic rupture or dissection. They may also be advised to wear a medical alert bracelet and receive regular cardiac monitoring.
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Genetic counseling: Marfan syndrome is an inherited condition, and genetic counseling can help individuals and families understand their risk of passing the condition on to their children and make informed decisions about family planning.
It is important for individuals with Marfan syndrome to work closely with their healthcare team to develop a comprehensive treatment plan that addresses their specific needs and reduces the risk of complications.
Living with
Marfan Syndrome
Living with Marfan syndrome and its complications requires lifelong management. However, with proper treatment, individuals with Marfan syndrome can lead long, productive lives. Follow-up visits with doctors, regular eye exams, and image tests to monitor heart and lung health are crucial. Additionally, seeking support from family, friends, or online communities can help manage the emotional impact of the disorder.
It's also important to maintain a healthy diet, quit smoking, and wear medical identification in case of emergency. Women with Marfan syndrome can have healthy pregnancies, but it's essential to discuss the risks with a doctor and plan for any necessary treatments prior to pregnancy.
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At the Connective Tissue Coalition, our mission is to drive awareness and provide resources for individuals and families affected by Marfan Syndrome. We strive to be a source of knowledge and support, providing up-to-date information and resources for those in need. If you or a loved one has been diagnosed with Marfan Syndrome, we are here to help.