Marfan syndrome: A rare disease for which treatment is difficult

20 June, 2012

Marfen syndrome is one of the rarest diseases seen we know. Out of 5,000-7,000 babies one baby has it. It is a genetic condition that affects the connective tissue and is transmitted as an autosomal dominant trait. Marfan syndrome is distributed worldwide with pleiotropic (one gene influences multiple phenotypic expressions) manifestations, which are life threatening. About seventy five percent of the patients get this disease from their parents.

THERE ARE no specific laboratory tests to diagnose Marfan syndrome. It can only be diagnosed by observation and detailed study of the medical history of the patient, and there are no medications for the treatment of this disorder, only surgical methods are available for treatment,” Dr. Ravindra Jain, Pediatrician, told this Citizen Journalist, ading that the symptoms of Marfan syndrome progresses with the age of the person.

The individuals with this syndrome are typically very tall, and their arms, legs and fingers are disproportionately long and slender. They may have eye problems, due to the dislocation of one or both the lenses of eyes. The person with Marfan syndrome may suffer from serious complications due to retinal detachment. Marfan syndrome disorder is also associated with heart diseases. The wall of the aorta may be stretched and weakened due to aortic dilation, and this increases the risk of rupturing of aorta, which leads to sudden death.

Other symptoms of Marfan syndrome are:

1. The brain and spinal cord are surrounded by a connective tissue called 'dura' which contains a fluid. In the person with Marfan syndrome the dura is often starched and weak, and causes dural ectasia. These changes may lead to pain, weakness and numbness in the legs.

2. Individuals with Marfan syndrome develop stretch marks on the skin, without any weight loss, as per medical website MedicineNet.

Marfen syndrome is caused by the defective gene inherited from one of the parents. This defective gene fails to determine a protein, which is an important part of connective tissue. The person with Marfan syndrome carries this disorder from birth, but it is not diagnosed at the time of birth. The child of the person with Marfan syndrome has fifty percent chances of inheriting the disorder, reported PubMed Health.

The US-based National Marfan Foundation (NMF), founded in 1981, provides accurate information about Marfan syndrome and related disorders. NMF is a member of International Federation Of Marfen Syndrome Organizations (IFMSO).

The goals of IFMSO are to:

a) Provide current and accurate information about Marfan syndrome to people.
b) Establish standards for the treatment of Marfan syndrome.
c) Support and facilitate researchers and research centers doing research on this disorder.

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COMMENTS (1)

Guest

MarfMom

There IS a genetic test to diagnose Marfan! It's called the FBN1 test and it looks for mutations in FBN1. 90-95% of people who meet clinical criteria of Marfan syndrome have an identifiable mutation on FBN1. In addition, several other disorders can be found on FBN1. It is not a fool-proof test, but it's available and a very useful tool. Also, people with Marfan syndrome CAN be diagnosed at birth, depending on their severity or whether their parent has an identifiable mutation in FBN1. Some people have severe early onset Marfan (previously called neonatal) and that is clear at birth. If the parent knows their mutation, they can opt to have the fetus tested prior to birth, or at birth. Furthermore, your title is inaccurate. There IS treatment for Marfan syndrome! With treatment, the average life expectancy for someone with Marfan is the same as the general population. That is why prompt diagnosis is so vital.