Although scientists have determined that Marfan syndrome (MFS) is caused by a defect in the fibrillin 1 gene on chromosome 15, there is no simple blood test that can conclusively diagnose Marfan syndrome. Therefore, diagnosis is made through a clinical evaluation.
Important Note: The diagnostic criteria for Marfan syndrome have been revised by medical specialists. The new publication explaining the 2010 Revised Diagnostic Criteria is now available at http://jmg.bmj.com/content/47/7/476.abstract.
What should you do if you suspect Marfan syndrome?
Find a doctor who knows about Marfan syndrome. The first choice of doctor to look for is a medical geneticist (a doctor who specializes in genetic conditions such as Marfan syndrome).
A second choice is a cardiologist (heart doctor). Make sure the cardiologist has treated people who have MFS.
You can find a doctor by:
- Asking your primary doctor for a referral
- Calling the doctor referral service at your local hospital
- Calling your insurance provider
- Calling the National Marfan Foundation Resource Center at 800-862-7326, ext. 26
Learn the health history of you and your family. You might want to write this down in a health history notebook with lists of:
- Your past illnesses, operations, and hospitalizations
- Medications you are taking
- Reasons why you think you might have MFS
- Family members who have, or might have, MFS
- Family members who died of a heart problem
The NMF has created a Family Health History template for you to save to your computer. The U.S. Department of Health and Human Services offers an internet-based family health history tool which may also be helpful.
How is Marfan syndrome diagnosed?
Marfan Syndrome Diagnostic Criteria is a list of features doctors use to diagnose (decide if someone has) Marfan syndrome. Diagnostic criteria are sometimes called “Ghent Criteria,” named after the city in Belgium where doctors decided which features to include on the list. Some of these features are easy to see. Others need special tests to find them. These common, painless tests which are part of the clinical evaluation include:
- Echocardiogram
This test looks at the heart, its valves, and the aorta (vessel that carries blood from the heart).
- Electrocardiogram (EKG)
This test checks your heart rate and heart rhythm. Your doctor may to do both an EKG and an echocardiogram.
- Slit lamp eye exam
This test, a part of most eye exams, helps your doctor see if the lenses in your eyes are dislocated (out of place).
- Other tests, such as a CT scan or MRI of the lower back
These tests can help your doctor see if you have dural ectasia, a back problem that is very common in people who have MFS.
Is there a blood test (genetic test) for Marfan syndrome?
Yes, but the use of genetic testing for the diagnosis of genetic disorders can be very complicated. This is certainly true for Marfan syndrome. Input from a geneticist or genetic counselor may be necessary to achieve a full understanding of the capabilities and limitations of genetic testing for Marfan syndrome.
At this time, there is limited use for genetic testing and a comprehensive clinical evaluation remains the most effective way to make a diagnosis of Marfan syndrome.
A genetic test alone can not tell you if you do or do not have Marfan syndrome.
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What are the possible diagnoses?
A person with Marfan features may or may not have Marfan syndrome. Here are some diagnoses that doctors can make:
- Marfan syndrome
A doctor makes this diagnosis when a person has the major and minor criteria as described above. In these cases, it can be said that a person “meets” the diagnostic criteria for Marfan syndrome.
- Emerging Marfan syndrome
Doctors may use this term when a child (or sometimes an adult) has just some of the diagnostic criteria for Marfan syndrome. This is likely when doctors think the child will have more features as the child grows older.
- Some other genetic disorder of connective tissue
A person who does not meet the diagnostic criteria for Marfan syndrome may instead have another genetic disorder of connective tissue. These related disorders include: Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Sticklers syndrome.
- No specific diagnosis
This is when a person has Marfan features but does not meet the diagnostic criteria for any known disorder.
Many people with Marfan features (whether they have a diagnosis or not) need medical treatment and follow-up care. Make sure to talk with your doctor about the care that is right for you.
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