Marfan syndrome is a very rare and an inherited disorder of connective tissue and its growth. The disease further affects many parts of the body.
The disease is highly variable, which means that different people with the condition will have different parts of their body affected to a greater or lesser degree.
The impact of Marfan syndrome results from change in the body's connective tissue and in the control of body growth. Connective tissue holds our bodies together. It is found throughout the body, which is why it can affect many different parts of the body.
Diagnosis of Marfan syndrome
There is not one test available to make a diagnosis for Marfan syndrome. To find out if someone has Marfan syndrome, the patient needs to be checked for features of the condition.
To be diagnosed with Marfan syndrome, a person must either have many of the features or have just a few of the features but also have a family member with documented Marfan syndrome.
Genetic testing can also help with the diagnosis. This is a blood test that looks for a mutation in the FBN1 gene, which is the cause of Marfan syndrome.
If the FBN1 mutation causing Marfan syndrome in a family is known, then other members of the family can be tested for that mutation. This will determine if they are having inherited Marfan syndrome.
Signs & Symptoms of Marfan syndrome
The most common feature of Marfan syndrome is dilation or widening of the aorta, which is the main blood vessel that takes blood out of the heart to the rest of the body.
The dilation can progress until the wall of the aorta tears, a condition called aortic dissection. This is the most serious or life-threatening feature of Marfan syndrome.
Though, aortic dissection can be avoided by taking prescribed medicine and with preventive surgery to replace a dilated aorta, before it ruptures down.
Since Marfan syndrome is partly caused by changes in growth regulation, people with the disorder can often have some of the following traits:
- They are taller than people in their family who do not have Marfan syndrome
- They may have long, thin fingers and long arms and legs
- They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly
- They can have a detached retina, prior glaucoma or early cataracts
Treatment of Marfan syndrome
Care of people who are suffering with Marfan syndrome has significantly improved over the years. Most people will live a normal life span and have a good quality of life, though they will need more medical attention and treatment than the average person.
As marfan syndrome affects many different parts of the body, people with Marfan syndrome need to see doctors who specialize in genetics, cardiology, orthopedics, ophthalmology and other specialties as needed.
Most of the features of Marfan syndrome can be treated. Aortic dilation can be managed with medications, regular screening of the aorta by echocardiogram, and surgery to prevent aortic dissection. The eye features can be treated with glasses or, if needed, with surgery.