Marfans Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue cements the body’s cells and organs together.

Connective tissue like every other tissue and cell in the body  is made of proteins. The protein that is defective in Marfans is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that instructs the cells how to make fibrillin-1.

Now, the things is, connective tissue is everywhere. So the effects of Marfans is seen throughout the body. The big problems happen in the heart, blood vessels, bones, joints, and eyes. Unfortunately some of the effects are deadly. All the blood that gets pumped out of your heart is pumped through a gigantic artery called the Aorta. In Marfans Syndrome, that Aorta gets weak and has a tendency to bleed. That kind of bleeding can kill a person.

About 1 in 5,000 children born all over the world will suffer from Marfans. It hits anyone, of any gender in any race. It’s more likely to be inherited from a parent who has a defective fibrillin-1 gene, but in some people, the disease is due to a random mutation and no one else in the family before them ever had it.

Knowing the Signs and Symptoms

If you are born with Marfans, signs and symptoms of the disease don’t necessarily present themselves at birth. Some people have a lot of Marfanoid features at birth or as young children – including that serious aortic issue I mentioned earlier. Others will start having the symptoms as they age.

Very common signs of symptoms include:

• Long arms, legs and fingers
• Tall and thin body type
• Curved spine
• Chest sinks in or sticks out
• Flexible joints
• Flat feet
• Crowded teeth
• Stretch marks on the skin that are not related to weight gain or loss

The ones that are less common, or happen only with age are:

Aortic Enlargement (I’m mentioning this the 3rd time because it’s worth remembering), Sudden lung collapse, Eye problems, like nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts.

A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue disorders.

DIAGNOSIS

A doctor will need to take a detailed medical and family history, including information about any family member who may have the disorder or who had an early, unexplained, heart-related death.

They need to examine the patient thoroughly, including an eye checkup and a heart checkup. Then there are tests that need to be done, Like:

• Echocardiogram: This test looks at your heart, its valves, and the aorta (blood vessel that carries blood from the heart to the rest of the body).
• Electrocardiogram (EKG): This test checks your heart rate and heart rhythm. An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
• Other tests, such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) of the lower back. These tests can help your doctor see if you have a back problem that is very common in people with Marfan syndrome called dural ectasia (swelling of the sac around the spinal column).

Now, there are genetic tests for Marfans but they don’t always catch every mutation and every variation, so they need to be coupled with a thorough study of patient’s history and physical examination.

TREATMENT

Marfans isn’t CURABLE yet, but IS MANAGEABLE. Everyone has their own experience with the disease and they need to keep in touch with their doctor and take basic precautions. 

Limiting dangerous physical activity is important since the connective tissues are weak. Cuts and scrapes are nastier and bruises are worse.

Heart and eye issues associated with Marfans may require surgery as the patient ages. These can be planned and the issues dealt with.