Marfan Syndrome

Marfan syndrome is a genetic disorder that affects connective tissue, leading to features like long limbs and a tall, slim build. It can cause problems with the heart, blood vessels, eyes, and bones, often requiring ongoing medical care.

What is Marfan syndrome?

Marfan syndrome is a genetic condition that affects the body's connective tissue, which helps support and hold together many parts of the body. People with Marfan syndrome often have unique physical features and may face health challenges, particularly related to their heart and blood vessels.

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What are the symptoms of Marfan syndrome?

The symptoms of Marfan syndrome can vary widely from person to person but commonly include:

  • Tall and slender build
  • Long arms, legs, fingers, and toes
  • Curved spine (scoliosis)
  • Flat feet
  • Flexible joints
  • Vision problems
  • Chest that sinks in or sticks out
  • Heart issues, such as problems with the aorta (the main blood vessel leaving the heart)

What causes Marfan syndrome?

Marfan syndrome is caused by a change in a gene that helps make connective tissue. This gene is passed down in families, which means it can be inherited from a parent who has the condition.

How common are Marfan syndrome cases?

Marfan syndrome affects about 1 in 5,000 people worldwide, making it a relatively rare condition. However, it can occur in any ethnicity or gender.

Who is more likely to get Marfan syndrome?

People who have a parent with Marfan syndrome have a 50% chance of inheriting the condition. It can affect anyone, regardless of background or ethnicity.

How can I treat Marfan syndrome?

Marfan syndrome cannot be cured, but its symptoms can be managed. Treatment may include:

  • Regular check-ups to monitor heart health
  • Braces or surgery for scoliosis
  • Medicines to help control heart problems
  • Eye surgery for vision issues

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How to live with Marfan syndrome?

People with Marfan syndrome need to work closely with their healthcare team to manage the condition. This can include:

  • Staying active but avoiding intense activities that may strain the heart
  • Eating a balanced diet
  • Going for regular health check-ups
  • Being aware of family history to understand risks

What’s the outlook for Marfan syndrome?

With appropriate medical care and lifestyle adjustments, many people with Marfan syndrome can lead full and active lives. Keeping an eye on heart health and making necessary changes can improve their outlook significantly.

Final thoughts

Marfan syndrome is a complex condition, but with proper management, individuals can live fulfilling lives. If you have concerns about Marfan syndrome, it’s essential to talk to your GP or healthcare provider.

Always consult a medical professional
This article is for informational purposes only and is not a substitute for medical advice. Always consult a healthcare professional before starting, stopping or changing any medication. If you have concerns about your medication or experience side effects, speak to your doctor or pharmacist immediately.

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