Being exceptionally tall with long limbs can be a sign of something more. Understanding Marfan syndrome is vital for managing its serious, often hidden effects on the heart. Don't overlook the signs.
What are the main causes of Marfan Syndrome?
- What is Marfan syndrome? It's a genetic disorder affecting the body's connective tissue, which provides strength and flexibility to bones and blood vessels.
- The condition is caused by a defect in the fibrillin-1 gene (FBN1), which plays a key role in forming the elastic fibers of connective tissue.
- In most cases, the faulty gene is inherited from a parent, but approximately 25% of cases result from a new, spontaneous mutation.
Key symptoms of Marfan Syndrome to watch for
- Key Marfan syndrome symptoms include a tall stature with unusually long arms, legs, and fingers, as well as a curved spine (scoliosis).
- Vision problems, such as severe nearsightedness or a dislocated lens in the eye, are also common indicators of this genetic disorder.
- The most serious complication is the risk of an aortic aneurysm, a bulge in the body's main artery that can be life-threatening.
How is Marfan Syndrome diagnosed and managed?
- A Marfan syndrome diagnosis involves a physical exam, family history review, and tests like an echocardiogram to monitor the aorta.
- While there is no cure, treatment focuses on managing symptoms and preventing complications, often with medications to lower blood pressure.
- Regular monitoring and a careful lifestyle can significantly improve the Marfan syndrome life expectancy, now approaching that of the general population.
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Early diagnosis and management are key to living a long, healthy life with Marfan syndrome. If you have symptoms or a family history, consult a doctor.
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