Marfan syndrome is a genetic condition that affects the body’s connective tissue, which supports organs, joints, and blood vessels. It affects around 1 in 5,000 people worldwide and can appear in any population and all sexes.
We are continuing our 10th-anniversary celebrations, and thanks to the suggestions you have sent us, we have seen a lot of interest in connective tissue disorders. With that in mind, as part of our Featured Condition series, we have selected Marfan syndrome.
Marfan syndrome is caused by a change in the FBN1 gene, which affects the production of fibrillin-1, a protein essential for strong and flexible connective tissue. When this protein is altered, tissues, especially in the heart, blood vessels, eyes, and skeleton, become more fragile. Most cases are inherited, but around 25% are due to new genetic mutations. If one parent has Marfan syndrome, there is a 50% chance of passing it on. Lifestyle factors do not cause or prevent the condition.
Symptoms vary widely from person to person. Some signs are very noticeable, while others are subtle. Recognizing them early helps guide proper medical care.
- Tall stature and long limbs
- Cardiovascular issues
- Nearsightedness or lens dislocation
- Back pain or scoliosis
- Chest deformities
There is no cure, but with regular medical follow-up and healthy lifestyle adaptations, people with Marfan can manage symptoms effectively. The main goal is to protect the heart and support overall wellbeing.
Marfan syndrome cannot be prevented because it is genetic, but complications can be reduced through regular follow-ups, avoiding high-impact sports, and following medical advice. Genetic counseling can be helpful for families with confirmed diagnoses.
Support groups and reliable information can greatly improve wellbeing. Many organizations offer resources, patient communities, and professional guidance. The Marfan Foundation is a leading international organization providing education, support, research, and connection among people with Marfan syndrome. It also links patients with local support groups and volunteers.
Learn more about how this condition could be relevant to you in Genomapp’s app.