Marfan Syndrome-II

Diagnosis
The below factors help in diagnosing the disorder
A detail study of family history, a close family member having the disorder increases your risk
Medical history, any past symptoms or illnesses which point towards the syndrome need to be studied in detail.
Physical examination, heart rate, skin check for stretch marks
Since the symptoms appear usually in teenage years, it is difficult to diagnose the disorder definitively in children. Any suspicion of the presence of the syndrome should be closely monitored for symptoms, so prompt action and treatment can be made available.
At times, it is difficult to differentiate Marfan syndrome from other connective tissue conditions like Beals syndrome or Ehlers-Danlos syndrome as all of them have similar symptoms.
In these scenarios, the Ghent criterion is followed. It consists of major and minor criteria. Major criteria include symptoms common to people with Marfan syndrome and rare in people who do not have the condition. Minor criteria are features that are present in people having the disorder, but are also present in people who do not have it. The major criteria can include enlarged or ruptured aorta, eye lens dislocation, family history, at least four skeletal problems, dural ectasia. The minor criteria can include myopia, stretch marks, inflexible and loose joints, high arched palate and long, thin face. To be diagnosed positive with the syndrome, you must have a number of different criteria. If there is a family history, one needs one major and one minor criteria that affects different body parts, like skeleton and blood vessels. If there is no family history, then one needs two major and one minor criterion affecting different body systems.
To confirm the diagnosis of Ghent criterion, some laboratory testing may be advised. These can include:
Eye examination – to check for eye lens dislocation
Echocardiogram – for checking damage to aorta
Chest X-ray – to check enlargement of aorta
MRI scan – to detect dural ectasia and to examine blood vessels.
Genetic testing – since the gene causing disorder can mutate in 200 different ways, there can be no single genetic testing formula that can diagnose the syndrome. Testing for different gene mutations is difficult, expensive and time consuming, so the above mentioned techniques are more often used for diagnosis.
Prenatal testing – in expecting parent who has the disorder, prenatal testing may be done to know the appearance of the syndrome in the unborn child. Testing is done at about 10-12 weeks of pregnancy using chorionic villus sampling (CVS) in which a small sample of placenta is taken for examination. The syndrome can also be tested at 16-18weeks using amniocentesis, in which a small sample of the amniotic fluid is examined. The test detects the presence of defective gene in the unborn child, however, cannot indicate the severity of Marfan syndrome which will be individual to the child, irrespective of the symptom severity in the parent.