Do You Have Marfan Syndrome?
by: J. Davis
Are you experiencing...
- Longer arms and legs
- Tall and thin body figure
- Curved spine
- Abnormally shaped chest
This disorder is caused primarily by a substitution mutation in the FBN1 gene on chromosome 15 that tells the body how to make a protein called fibrillin-1. This causes an increase in a protein called TGF-B which will lead to problems in connective tissue throughout the body. Extreme symptoms include aortic enlargement, which can be life-threatening. Many symptoms are not present at birth and are sometimes are not noticeable until adulthood.
How you may have gotten this disorder
- This disorder is autosomal dominant
- 1 in 5,000 people are diagnosed with Marfan Syndrome
- 3/4 people with Marfan inherit it
- 50% chance of someone with Marfan will pass it down each time they have a child
- Thorough physical exam of eyes, heart and blood vessels, and muscle and skeletal systems
- Family history
- Chest X-Ray
- Electrocardiogram and echocardiogram to check heart rhythm problems
- Beta blocker- decreases forcefulness of heartbeat and pressure in arteries
- Treatments individualized for patient's needs
- Those with Marfan should receive early and accurate diagnosis and treatments for better outcomes