Marfan syndrome is a disorder of the connective tissue and involves either one or more of the systems of the body like the cardiovascular, ocular (eyes), musculoskeletal, etc. It is known to affect approximately one in five thousand people. It is one of the most lethal genetic conditions due to the involvement of the cardiovascular system. Tall stature, deformities of the chest wall, scoliosis and prolapse of the mitral valve (of the heart) are some of the common physical features of marfan syndrome.
Although it is a deadly condition life expectancy of the patients suffering from it has increased greatly with recent advances in medical science. Also lifestyle changes like limitations in physical activity related to both work and recreation help in the management of the condition. It is a predominantly genetic condition but around 26% of the affected do not have any family history of marfan syndrome and it is mainly attributed to new mutation. The proper management of such patients usually requires lifelong treatment and observation of the aortic condition by doctors to look for the possibility of aortic root surgery.
The diagnostic criteria for marfan syndrome is a list of medical features used by doctors to decide if a patient is suffering from marfan syndrome. Some of these features are visible easily but others require some tests to identify them. The diagnostic criteria used to diagnose marfan syndrome are known as ‘Ghent criteria’ because doctors decided the criteria to be used in Ghent, a city in Belgium.
The diagnostic criteria for marfan syndrome, are of two types major and minor. The major diagnostic criteria are those symptoms that are common to the sufferers of marfan syndrome but are rarely found in others. The minor diagnostic criteria are those found in patients suffering from marfan syndrome as well as patients suffering from other diseases.
Since marfan syndrome affects different parts of the body there are different criteria for different parts as well. Once the test results are available doctors will compare the test results with the patient’s health history and the results of physical examination and diagnose it in the following manner:
– Where there is no family history of marfan syndrome doctors diagnose it when major criteria are present in at least two of the body systems and minor criteria in another body system.
– If the brother, sister or parent of the patient suffers from this condition then doctors use a major criteria in on one of the body systems and a minor criteria in another system to diagnose marfan syndrome.
The above criteria are used by doctors to diagnose marfan syndrome because DNA tests don’t always indicate whether a patient suffers from it or not. Correct diagnosis is difficult even for experienced physicians as some of the features attributed to this condition can be present in others also.
It is possible that persons having the features of marfan symptoms may not be actually suffering from it. However even in such cases the patient needs medical attention. If you suspect that you or someone close to you may be suffering from this condition you should consult your doctor immediately. You can also contact the National Marfan Foundation Resource Center by calling 1-800-862-7326 ext. 26.
Source: National Marfan Foundation (NMF).
