Most cases of Marfan syndrome go unnoticed for several years since there are no specific laboratory tests for Marfan syndrome diagnosis. The diagnosis has to done clinically, while adopting a multidisciplinary approach since multiple organs systems need to be assessed before confirming or ruling out the presence of the disorder. The eyes, lungs, heart, blood vessels, skeletal system and the spine – all need to be examined thoroughly.
Since there are no specific tests like a scan, x-ray, test or biopsy that could confirm the presence of this disorder, the doctor and/or geneticist will have to study the medical history of the patient carefully besides relying on his own observation and judgment. The investigating doctor would need to do the following:
• Gather information about any family members who have suffered from Marfan syndrome in the past. Even if no such cases have been reported in the family, the doctor would need to look into unexplained death due to cardiac problems at an early age.
• Examine the patient thoroughly, especially his frame to compare the ratio of his limbs with his trunk size to see if the limbs are disproportionately long.
• A thorough eye check-up.
• Cardiac tests, particularly the echocardiogram, electrocardiogram and a chest x-ray to see if the heart is functioning properly.
• A CT scan or MRI to check for systems of Dural Ectasia, a
If Marfan syndrome runs in the family, it will not take the doctor a very long time to know the reason behind the disorders of more than one organ. Even if there is no family history, a thorough diagnosis for Marfan syndrome is undertaken if two or more organs/systems mentioned shows signs that are typical to this disorder.
A blood test can also help in Marfan syndrome diagnosis. This highly specialized test looks for changes in the gene called FBN1. In most of the cases, this is the gene responsible for causing Marfan syndrome. But this test does not always yield unequivocal results and should, therefore, be accompanied by genetic counseling.
Genes are molecular units of heredity which give instructions to our bodies. In genetic testing, the doctors look for mutations or changes in the patient’s genetic material i.e. genes, chromosomes and DNA.
To carry out this test, doctors usually take a blood sample, though they may be required to take other samples like a small piece of skin or a lining of cheek cells at times. It is an expensive test costing almost $2000, but is usually covered by most insurance policies.
Inspite of the high costs involved, the results of the genetic test alone can not confirm or negate the presence of Marfan syndrome. Therefore, genetic testing has a very limited scope and one of the most effective ways of Marfan syndrome diagnosis is still a comprehensive clinical examination.
Possible Marfan Syndrome Diagnoses
A person who has been showing some symptoms that are peculiar to this disorder and chooses to visit a doctor for Marfan syndrome diagnosis might be diagnosed with any one of the following:
• Confirmed positive: If the patient shows most of or many symptoms that are atypical to Marfan syndrome, he might be diagnosed as suffering from it.
• Emerging Marfan syndrome: There might be times when the doctor can not confirm that a child or an adult shows Marfan syndrome symptoms but suspects that this patent may develop them in due course of time, he is said to be a case of ‘emerging Marfan syndrome’.
• Confirmed negative: The patient may be suffering form some other disorder whose symptoms have been mistaken for Marfan syndrome like the Sticklers syndrome, MASS phenotype, Ehlers-Danlos syndrome, familial aortic aneurysm, etc.
Most people with Marfan syndrome symptoms and diagnosis need routine medical check-ups and proper care to deal with the complications without affecting day-to-day life.
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