Marfan Syndrome

What is Marfan syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it. Isiah Austin was an ace basketball player from the United States who showed great resilience and achieved the impossible. He was regarded as a first-round prospect in NBA until he was diagnosed with Marfan syndrome in 2014. Michael Phelps was born in 1985 and was a victim of Marfan syndrome. With a total of 22 medals, he's rightly called the most decorated Olympian of all time. Abraham Lincoln is still one of the most revered personalities in the history of the world, and is definitely among the most famous people with Marfan syndrome.

Symptoms

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age. Marfan sypmptoms include a slender build, disproportionately long arms, legs and fingers, heart murmurs, flat feet, and extreme near nearsightedness.

Mutations and Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta.
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Diagnosis and Treatment

Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. There are many ways you can treat like surgery, medicines , and treatment for the nervous system, the eye, and bones.