Causes
- Caused by a mutation in the FBN1 gene on chromosome 15
- Inherited in families-autosomal dominant
Symptoms
- Vaired among people
- Can range from mild to severe
- Weak connective tissues in the heart, skeleton, eyes, and other organs
- Aorta may be larger
- Spine may be curved
- Eye lense might become dislocated
- Loose joints
- Chest bone may bend in or out
- Bone overgrowth-long, thin arms and legs
Diagnosis
- Dilatated or dissected aorta
- Dislocated eye lense
- Lumbosacral dural ectasia- CT scan or MRI
- At least four skeletal features of the disease
- Close relative has the disease
Treatments
- Eyeglasses
- Artificial eye lense-surgery
- Arch supports/Orthotics
- Surgery for skeletal problems
- Medication to decrease stress on the aorta
- Surgery to repair the aorta
- Blood pressure medication
- Avoid competitive sports, isometric and statis exercise, certain medications, and caffeine
Prevalence
- Both sexes
- All ethnicities
- Rare-about 1 in 10,000
Life Expectancy
- Early to mid 70s if treated
- In the 40s if not treated
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