Marfan Syndrome By: Megan Smith

"What is Marfan Syndrome?

Marfan Syndrome is considered a disease of the connective tissue. Since connective tissue is important to holding the body and its organs together, Marfan Syndrome can cause a lot of different problems all over the body. A few of the main problems it includes are abnormal rates of growth, scoliosis, and problems in major organs like the heart. It can also cause problems in the eyes like nearsightedness or cataracts disease.

"What Causes It?"

There is a gene in our body that is called fbn1. This gene is responsible for the production of the protein fibrillin-1 preproprotein, that plays an important rule in the structural components of the bodies connective tissue. So when a mutation occurs in this gene, there is an increase in the protein TGF-B that causes problems in the bodies connective tissue and leads to elongated limbs, such as arms, toes and fingers, that are known as characteristics associated with Marfan Syndrome.

"Who Does It Affect and How Do They Get It?"

Marfan Syndrome doesn't target any specific group of people. It doesn't vary by race nor by gender. People usually get this disease by inheriting it, but there is still a chance of someone without a family history of the disease getting it. That being said, the disease is autosomal dominant so for those that have a family history of the disease, they have a fifty percent chance of getting it and a fifty percent chance of not getting it.

"What Are the Symptoms?"

Symptoms of Marfan Syndrome

Symptoms of Marfan Syndrome include, but aren't limited to, elongated limbs (arms, fingers, toes, etc.), vision problems, scoliosis (curvature of the spine), and problems in major organs (like the size of the major blood vessel that pumps blood to the heart).

How Many People Does It Affect?"

This disease occurs in about 1 out of every 5,000 people world wide. The number of cases in the U.S. now is around 200,000 people and the occurrence of the disease is about the same as it is for the world.

"Who Discovered It and When?"

Marfan Syndrome was discovered in 1896 by a french physician named Antoine Marfan. Marfan believed that the facts of medicine should be based a lot off of the observations of the patients themselves. So it's no surprise that this disease was discovered when Marfan got a patient who had elongated limbs and was very thin. To back up his findings, a doctor in Ohio had two patients, a brother and a sister, that had visions problems along with elongated limbs as well. These symptoms came to be associated with the disease we know today as Marfan's syndrome. But before the disease was named after Marfan, it was originally called Arachnodacryly after the Greek word for spider.

"How Is It Diagnosed and What's the Prognosis for Someone Who Has It?"

This disease is diagnosed by the symptoms that the patient is experiencing, the patient's medical history, a physical examination, slit lamp evaluation, and some sort of screening of your cardiovascular system. Just looking at a patient's family history could never be enough to diagnose this disease for it can pop up in anybody whether they have any family history with the disease itself. The average lifespan of a person with Marfan Syndrome used to be 45 years, but it has increased dramatically to the age of 70. But since there are so many different variations of the disease, the lifespan depends on the individual patients and the symptoms that they have.

"How Is It Treated?"

Because there are so many different problems associated with Marfan Syndrome there isn't just one way to treat it. Patients that have vision problems can usually just get glasses or contacts to correct their vision; where as patients with more serious diseases like cataracts may have to get surgery. For patients with skeletal problems there are a lot of different options depending on the specific problems being experienced. To help with abnormal growth patterns certain hormones can be added in to control it. To help with scoliosis, patients can be prescribed a brace or, in more severe cases, surgery. Surgery may also be required for internal problems, such as those in the cardiovascular system.

"What Current Research Is Being Done?"

Research today is focused on trying to understand more about Marfan Syndrome and the other diseases that are like it. They are also working on determining more treatment options for the disease. Another important part of their investigations is to study the quality of life that patients can have with this disease.


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