Living with Marfan syndrome awareness

Overview

Marfan syndrome is a genetic condition that affects connective tissue, which is the material that supports your bones, organs, and other body parts. It can affect many parts of the body, including the heart, blood vessels, eyes, and skeleton. With proper medical care and regular checkups, most people with Marfan syndrome can live full, active lives.

No, Marfan syndrome is rare. It affects about 1 in every 5,000 people worldwide.

Marfan syndrome affects people of all ethnic backgrounds, and men and women equally. It can be inherited from a parent, but about 1 in 4 people with the condition have no family history.

Symptoms

Common symptoms

• Tall, slender build with long arms, legs, fingers, and toes
• Curved spine (scoliosis) or a sunken or protruding chest
• Flat feet and loose joints
• Nearsightedness or other vision problems
• A heart murmur, which is an extra or unusual sound in the heartbeat
• Weakness or pain in the back, chest, or legs

Symptoms in children

• Children may be taller than their peers and have very flexible joints
• The distinctive physical features may not be obvious until the child grows
• Some children have learning difficulties or vision problems

Symptoms in older adults

• The risk of the aorta stretching or tearing increases with age
• Back pain, joint pain, and wear-and-tear on the spine are more common
• Vision changes from lens dislocation may become more noticeable

Causes

Main causes

• A mutation (change) in the FBN1 gene, which is responsible for making a protein that helps connective tissue stay strong and stretchy
• The changed gene can be passed down from a parent who has Marfan syndrome
• In some people, the gene change happens for the first time with no family history

Risk factors

• Having a parent or sibling with Marfan syndrome increases the chance of having the condition

When to see a doctor

See a doctor urgently if:

• If you have sudden, severe chest or back pain, call your local emergency number right away
• If you faint, have trouble breathing, or suddenly lose vision, seek emergency care immediately

Book a routine appointment if:

• If you or your child have several of the physical features listed above, ask your doctor about being checked for Marfan syndrome
• If you have a family history of Marfan syndrome or unexplained heart or eye problems, talk to your doctor
• Pregnant women with Marfan syndrome should have careful monitoring by both an obstetrician and a heart specialist

Diagnosis

Doctors diagnose Marfan syndrome by looking at your medical history, doing a physical exam, and checking for changes in your heart, eyes, and body shape. They may also order genetic testing to look for the specific gene change.

Tests that may be done

• Echocardiogram: an ultrasound of the heart to measure the size of the aorta and check the heart valves
• Eye exam: a detailed look at the lens of the eye, which is often dislocated or off-center in Marfan syndrome
• Genetic test: a blood test that looks for the FBN1 gene mutation
• Bone X-rays or scans: to check for spine curvature or other skeletal features

What to expect at your appointment

If your doctor thinks you might have Marfan syndrome, they will likely refer you to a specialist, such as a cardiologist (heart doctor), an ophthalmologist (eye doctor), and a genetic counselor. You may need several tests on different days. It can take time to confirm the diagnosis, and that is normal.

Treatment

There is no cure for Marfan syndrome, but treatment can manage symptoms and prevent serious complications. The main goal is to protect the aorta from stretching or tearing and to address eye, bone, and joint problems as they arise.

Self-care at home

• Keep all follow-up appointments with your specialists
• Learn to recognize warning signs like sudden chest, back, or eye pain
• Avoid heavy lifting, contact sports, and activities that strain the heart and blood vessels
• Wear seat belts and take steps to avoid falls, as joints and bones can be fragile

Medical treatments

Doctors may prescribe medicines that lower blood pressure and reduce stress on the aorta. These medicines are often taken daily and are important even if you feel fine. Your doctor will decide the right treatment plan based on your individual needs.

When is surgery considered?

In some cases, surgery may be needed to repair or replace part of the aorta if it becomes too large or tears. This is major surgery, and your doctor will talk to you about the risks and benefits if it is recommended. Pregnant women with Marfan syndrome may need special monitoring and, rarely, surgery before or after pregnancy.

Living with this condition

Living with Marfan syndrome means staying on top of regular checkups and being mindful of how you use your body. Most people with Marfan syndrome can work, study, and enjoy a full family life with appropriate precautions.

Lifestyle tips

• Avoid contact sports like football, boxing, and wrestling, as they can injure the chest and blood vessels
• Avoid heavy lifting, repeated pull-ups, and exercises that cause strain or extreme joint movement
• Do regular, gentle activities like walking, swimming, or cycling, but check with your doctor first
• If you have vision problems, wear corrective glasses or contact lenses and get annual eye exams
• Plan pregnancy carefully with your doctor, because Marfan syndrome can affect both mother and baby

Diet and exercise

Eat a balanced diet with plenty of fruits, vegetables, and whole grains to keep your bones and tissues healthy. Stay at a healthy weight to reduce strain on your heart and joints. Exercise is good, but choose low-impact activities like walking, swimming, or light yoga. Avoid activities that involve sudden bursts of effort or heavy resistance.

Mental health and emotional wellbeing

Living with a chronic condition can sometimes lead to worry, anxiety, or feeling different from others. It is normal to have these feelings. Talking to a counselor, joining a support group, or simply sharing with family and friends can help. If you feel overwhelmed, reach out to your healthcare team for local support options.

Prevention

Marfan syndrome cannot be prevented, because it is a genetic condition. If you have the condition, regular checkups and following your treatment plan can help prevent complications. If you have a family history, genetic counseling can help you understand the risks for future children.

Screening programmes

Family members of someone with Marfan syndrome should be offered screening, which may include a physical exam, an echocardiogram, and genetic testing. Early detection allows for early monitoring and care.

Complications

If left untreated

• The aorta may stretch, bulge, or tear, which is a life-threatening emergency
• The heart valves may leak, causing heart failure symptoms such as shortness of breath and swelling
• The lens of the eye can dislocate, and severe nearsightedness can lead to retinal detachment
• The spine may curve significantly, causing pain or nerve problems
• The lungs can be affected, including a higher risk of collapsed lung (pneumothorax)

Long-term outlook

The outlook for people with Marfan syndrome has improved greatly in recent decades. With early diagnosis, regular follow-up, and appropriate treatment, most people can live well into their 70s and beyond, with a good quality of life. Taking proper care of your heart and eyes is the key to staying healthy.

Find support

International organisations

• The Marfan Foundation ↗

Local organisations

• Marfan Association UK ↗ · United Kingdom

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