By Katherine Brind’Amour, PhD
Marfan syndrome, also called Marfan’s syndrome, MFS or Marfan’s disease, is a genetic disorder that affects the body’s connective tissue. People with the condition are often tall and have long, thin arms and legs, as well as problems with their heart and other organs. The syndrome can range in severity but usually gets worse over time. Although some symptoms can be treated, there is no cure for Marfan syndrome.
What Is Marfan Syndrome?
Marfan syndrome affects connective tissue found in skin, bones, eyes, blood vessels and organs. It is a genetic disorder caused by a problem with the fibrillin (FBN1) gene. The disorder affects 1 in every 5,000 people of every race or ethnicity and gender. In most cases, Marfan syndrome is passed from a parent to a child (inherited), but in 1 in every 4 cases, the problem with the gene happens spontaneously. This means some people have no family history of the disorder. (1)
It is believed that there may be even more people with Marfan syndrome than estimated above, since many people may not even know they have the disorder. According to the Marfan Foundation, as many as half of all people with the condition don’t know it. (2)
What is the life expectancy of a person with Marfan syndrome?
Modern treatment for Marfan syndrome has increased the expected lifespan of people with the disorder. In the past, life expectancy was 45 or younger. Now, most people with the disorder have a normal lifespan, provided they are monitored and treated early and often. (3)
Marfan syndrome trivia: What disease did Abraham Lincoln have?
There is debate regarding whether President Lincoln had Marfan syndrome. In the 1960s, a physician suggested the possibility based on Lincoln’s physique and the similar tall, lanky appearance of his mother. There is evidence that a descendant of Lincoln’s great-grandfather was diagnosed with the disorder, and some anecdotal evidence from a discussion between the president and a newspaperman about a photograph of Lincoln where there could be an indication of aortic problems. However, Lincoln did not appear to have limitations in his athletic abilities or vision, and there was no indication of aorta problems from his autopsy. For now, the answer is not known for sure, but it is indeed possible that the 16th president of the United States had Marfan syndrome. (4)
Marfan Syndrome Signs & Symptoms
- Tall, thin build
- Arms and legs that are disproportionately long
- Unusually long fingers and toes
- Sunken or protruding chest
- Crowded teeth
- Poor vision (nearsighted)
- Curved spine (scoliosis)
- Flat feet
- Heart problems, such as murmurs
- Stretch marks on the skin not due to weight change
- Loose or stiff joints
- High, narrow palate that can cause sleep apnea
People with Marfan syndrome may also have a long, narrow face and deep-set eyes. Untreated eye problems can result in cataracts, glaucoma and vision loss. In addition, the heart and major blood vessels can have defects that make high blood pressure (including temporary increases during sports or pregnancy) dangerous. Some heart problems include leaks, backward flow, abnormal heartbeats and heart failure. These problems can also cause problems in the aorta, which carries blood away from the heart. In some cases, the aorta widens, breaks down or tears, or allows blood to flow backward, which can be deadly if left untreated. (7)
Causes & Risk Factors
Marfan syndrome is caused by a mutation (change) in the gene that makes fibrillin-1, a protein in connective tissue. When there is a problem with the protein, it changes how the body’s connective tissue grows and holds cells together in the bones, eyes, blood vessels and organs. These changes cause the symptoms of Marfan syndrome.
Because Marfan syndrome is a genetic disorder, the main risk factor is having a parent with the mutated gene. A person with Marfan syndrome has a 50-50 chance of passing the disorder to any and every child they have. However, not everyone with a mutation in that gene develops Marfan syndrome symptoms. That is why in-depth physical exams and imaging studies are required for diagnosis. For people with no family history, there is no known risk factor for having the spontaneous gene mutation. (7)
Common conventional treatments include: (8)
- Medicines to lower blood pressure so that the aorta isn’t strained
- Aorta surgery to replace part of your aorta with an artificial tube or new valve
- Eye medications for problems such as glaucoma
- Surgery for eye problems, including placement of an artificial lens for cataracts
- Scoliosis braces or surgical straightening
- Breastbone surgery to fix the appearance of a sunken or protruding chest
- Frequent screenings or checkups with various types of physicians, including ophthalmologists, orthopedists, geneticists and cardiologists
There is no true way to prevent Marfan syndrome, although you may be able to prevent some symptoms or complications of the disease by getting early and frequent treatment.
If you have Marfan syndrome and wish to learn more about preventing the disease in your children, you can speak with a genetic counselor about your options.
7 Natural Ways to Manage Marfan Syndrome Symptoms
With regular monitoring and some conventional treatments, people with Marfan syndrome can live a normal lifespan. By also taking advantage of natural strategies for improving health and wellbeing, people with Marfan syndrome can also often have a good quality of life. Try the following natural strategies to manage your Marfan syndrome symptoms.
- Avoid stress on your heart
- Optimize your vision
- Take care of your teeth
- Make the most of your figure
- Get emotional support
- Quit smoking
- Plan pregnancy carefully
Avoid stress on your heart
Heart problems are the most significant health risk to people with Marfan syndrome. By taking care to prevent high blood pressure and get regular monitoring for your heart and aorta, you can lower your chance of a deadly aortic rupture. Day-to-day changes to reduce the stress on your aorta include:
- Avoid strenuous physical activity. Sports that require a lot of running or strain, including weightlifting, should be avoided.
- Follow a heart-healthy diet. By eating heart-healthy foods and avoiding foods that can add plaque to your arteries, you can help keep your heart and blood vessels in the best shape possible.
- Make healthy substitutions. This can make it easier to eat well without feeling deprived. For example, swap in low-fat versions of mayonnaise and salad dressings to replace the full-fat versions without losing the flavor. You can also limit the salt in your diet by using a squeeze of lemon juice, a dash of herbs or a splash of vinegar for added flavor.
- Eat more heart-healthy foods. Try incorporating heart-healthy foods such as oats, salmon, whole grains, walnuts, leafy green vegetables, avocados and berries into your diet on a regular basis. These foods can help keep your heart healthy by helping keep cholesterol low, inflammation in check, blood pressure under control and good levels of healthy fats and antioxidants circulating in your system.
- Ask your doctor about eating a diet to lower blood pressure. If you are taking medication to lower blood pressure, work with your physician to manage your heart health if you also plan to try natural remedies, such as supplements or a diet, to lower blood pressure. According to Dr. Axe, foods that may help keep your blood pressure lower include pomegranate juice, spinach, coriander, pistachios, beetroot juice, olive oil, dark chocolate, flax seed, celery, tomatoes, purple potatoes, sesame oil and hibiscus tea.
Optimize your vision
Taking care of your eyes before serious problems develop can make it easier to maintain your vision longterm. You may also be able to catch complications, such as glaucoma, before they cause serious damage. You can naturally optimize or protect your vision by: (9)
- Getting yearly eye exams. Tell your optometrist or ophthalmologist about Marfan syndrome and, if necessary, find an eye doctor who specializes in caring for people with connective tissue disorders. Eye exams may reveal important information about your eye health and your blood vessel health.
- Correcting your vision. Get contact lenses or glasses to correct your nearsightedness.
- Acting quickly when vision changes. If you start to notice symptoms of eye problems, such as a change in vision, lazy eye, cloudiness, pain in your eyes or other symptoms, call your eye doctor immediately.
- Protecting your eyes during activity. Your eyes may be more likely to suffer problems such as retinal detachment, which requires surgery to fix. Avoid sports that can result in head trauma (football, boxing, diving). High-impact work or activities should also be avoided (jackhammers, rollercoasters, trampoline jumping). When you do other activities, wear eye goggles and a helmet.
Take care of your bones and teeth
The skeleton and teeth may be the most visual signs of Marfan syndrome. In addition to getting regular checkups from an orthopedist and dentist, you can take steps to promote your bone and teeth health. Some of these steps may help stop symptoms from worsening, while others may benefit you by improving your self-image and confidence.
- Maximize bone health. Many people with Marfan syndrome have low bone mineral content and density. They may benefit from strategies to identify and correct problems with skeletal health. (10)
- Take care of your spine. Marfan syndrome can cause skeletal problems such as scoliosis. To keep scoliosis from getting to the point of requiring surgical correction, use a brace or other strategies to support your spine and promote good posture.
- Get a nutritional assessment. You can talk with an orthopedic specialist, a dietitian familiar with Marfan syndrome or another health care expert to make sure you are getting the nutrients you need for strong, healthy bones.
- Eat a diet to support healthy bones.
- Ask about supplements. Vitamin D, calcium and other supplements that support bone health may help you improve your bone strength and mineral content. Talk with your doctor before starting new supplements.
- Take care of your teeth. Patients with Marfan syndrome are at an increased risk of cavities, gingivitis, misaligned or crowded teeth and other dental problems, such as impacted teeth. To help reduce your chances of poor dental health and appearance, go to the dentist at least once every six months for a professional cleaning and consultation. (11)
- Brush twice a day and use mouthwash and floss. Following good dental hygiene can help reduce the chance of cavities and gingivitis. You can also reduce your risk of complications such as endocarditis (a heart infection) by keeping your mouth clear of harmful bacteria. (12)
- Eat a diet to help avoid cavities. This means avoiding drinks and foods high in sugar, such as soda and candy. You should also avoid highly acidic foods.
- Consider orthodontics. Dental appliances such as braces may be able to align teeth, and procedures such as extraction may help reduce visible crowding. Many people find that improvements in the appearance of their teeth improves confidence and self-image. Reducing crowded or misaligned teeth can also help reduce plaque buildup and jaw or bite pain. However, if you undergo any dental procedures, ensure that the dentist knows about your diagnosis so that he or she can monitor your blood pressure and offer pain relief that won’t interact with any medications or supplements you may be taking.
Make the most of your differences
People with Marfan syndrome often have a body type characteristic of the disorder. They are often tall and thin, with an arm span longer than their height. Many people have loose joints and long fingers and toes. Because self-image can be important to emotional health, the Mayo Clinic suggests cosmetic concerns be addressed. (8) Some ways to make the most of a tall, thin frame include:
- Dress to flatter your figure. The Marfan Foundation suggests tips such as low-rise jeans, drop-waist tops, long tunics and leggings for girls, and polo shirts, relaxed or roomy jeans, and pushed or rolled-up sleeves for boys. (13) More tips abound on Google!
- Focus on what you can do. Recommended activities for people with Marfan syndrome include skating, snorkeling, brisk walking, bowling and golf. Doubles tennis and stationary bikes are also good options, and in some cases, hiking, swimming laps, jogging and touch football may even be considered safe. Talk with your doctor to find out which sports options may be a good fit. (14) Other activities for which height and length are benefits can also be considered, such as fencing or playing the piano.
Get emotional support
Marfan syndrome can negatively impact social function, general health, bodily pain, and physical roles, creating a reduced health-related quality of life. (15) People who experience pain due to the condition also experience reduced mental health, and depressive symptoms are common. (16) The Marfan Trust also acknowledges that the disorder often impacts confidence and mental health. (17) Try these approaches for supporting mental health and wellbeing:
- Cognitive behavioral therapy
- Learn about the condition and what it means for your family (18)
- Work with your school or employer to get special plans in place for a supportive and safe environment (19)
- Talk with a psychiatrist, social worker or support group (20)
- Tell your doctors and your loved ones how you feel, and let them help (21)
Don’t use tobacco if you have Marfan syndrome. The disorder increases your risk for lung problems, and smoking makes your chance of lung problems even worse. (22) The American Lung Association has many tips and support options for quitting smoking. (23)
Plan pregnancy carefully
Pregnancy in people with Marfan syndrome can be dangerous because pregnancy puts extra stress on the aorta. If blood pressure gets too high, the risk of aortic complications increases. There is an increase in the rate of problems during pregnancy or birth as well as an increased long-term risk of needing aortic surgery in women with Marfan syndrome who get pregnant. However, research shows that a health pregnancy and delivery can certainly be achieved in most women with Marfan syndrome. (24)
If you have Marfan syndrome and you or your partner are considering getting pregnant, keep these tips in mind: (25)
- Speak to a genetic counselor before the pregnancy to learn about your risk of passing the condition to your children and how to best detect and manage Marfan in children.
- Women should talk to their health care team prior to pregnancy, if possible, to plan for changes in blood pressure, medications, diet or lifestyle, and monitoring during pregnancy.
- Once you are pregnant you will need heart imaging and possible changes in your medications.
- According to the Marfan Foundation, women with Marfan syndrome are encouraged to have children earlier in life and to see a specialist in high-risk pregnancies for care throughout the pregnancy.
- Choose the least stressful delivery method. This decision should be made together with an obstetrician who is familiar with all of your health needs.
- Do not attempt to self-diagnose Marfan syndrome. Symptoms of this disorder can be similar to those of other hereditary collagen disorders. Treatments can be optimized when the diagnosis is correct.
- The skeletal, lung and blood vessel changes associated with Marfan syndrome can lead to life-threatening complications. If you feel sudden chest pain, have trouble breathing or have an uncontrollable cough, seek medical assistance immediately.
- Do not start, stop or change the way you take medication or supplements without first speaking with a health care professional.
- If you have aorta or lung problems, consider wearing medical alert jewelry to let first responders know about your diagnosis in case of a serious complication.
- Take preventive visits seriously. Do not skip routine follow-up appointments with your health care team. The sooner a potential problem is detected, the better.
Marfan Syndrome Key Points
- Marfan syndrome is a genetic disorder that impacts the body’s connective tissue. It often results in a tall, thin frame, long arms and legs, long fingers and toes, problems with the heart and growth problems with the breastbone and spine.
- The disorder can cause problems with academics and vision.
- People with Marfan syndrome should avoid strenuous activities, such as weightlifting and intense aerobic sports.
- There is no cure for Marfan syndrome. Conventional treatments include medication to keep blood pressure low and, in cases of serious scoliosis or problems with the aorta, surgery.
- With proper monitoring and lifestyle changes, people with Marfan syndrome often have a normal lifespan.
7 Natural Ways to Manage Marfan Syndrome:
- Avoid stress on your heart
- Optimize your vision
- Take care of your teeth
- Make the most of your figure
- Get emotional support
- Don’t smoke
- Plan pregnancy carefully
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