Marfan syndrome is a rare, inherited disorder of connective tissue and growth. The disease affects several 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 features of Marfan syndrome result from changes 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.
Marfan syndrome most commonly affects the heart and blood vessels, the bones and joints and the eyes. It can also affect the lungs and the skin. The number and type of features that are present can vary a lot between different people with Marfan syndrome. Some will have only a few features, while others will have many.
The most common and serious feature of Marfan syndrome is dilation or widening of the aorta, which is the main blood vessel that carries 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. However, aortic dissection can be avoided by taking appropriate medicine and with preventive surgery to replace a dilated aorta, before it tears.
Since Marfan syndrome is partly caused by changes in growth regulation, people with the disorder can often have some of the following traits:
There is not one simple test 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. This may mean seeing a number of doctors and undergoing various special tests. The Marfan Clinic staff will determine which special evaluations or doctors a patient needs to see and will coordinate these evaluations. The genetics evaluation in the Marfan Clinic brings together the information from all these different doctors and tests to determine if the person has Marfan syndrome.
To be diagnosed with Marfan syndrome a person must either have several 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 have inherited Marfan syndrome.
Care of people 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. Because Marfan syndrome affects several 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. As mentioned above, 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.
Reviewed by health care specialists at UCSF Medical Center.