Marfan syndrome affects the connective tissue that holds your body together. Since this condition affects various parts of the body, you’ll need to have appointments with a number of healthcare providers who are experts in these areas. Treatments help people with Marfan syndrome live longer.
Marfan syndrome (also called Marfan’s syndrome or Marfans syndrome) is a condition that affects your connective tissue. Connective tissue holds your body together and provides support to many structures throughout your body.
In Marfan syndrome, the connective tissue isn’t normal. As a result, several body systems are affected, including your heart and blood vessels, bones, tendons, cartilage, eyes, skin and lungs.
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Marfan syndrome is fairly common, affecting 1 in 10,000 to 20,000 people. It has been found in people of all races and ethnic backgrounds.
When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50% chance of passing along the disorder to each of their children.
In 25% of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder because not everyone with Marfan syndrome has the same symptoms and the symptoms may be worse in some people than others.
Marfan syndrome is present at birth. However, you may not be diagnosed until you’re a teen or young adult.
Sometimes Marfan syndrome is so mild, that few if any, symptoms are noticeable right away. In most cases, symptoms become evident as changes in connective tissue happen as you age.
Because Marfan syndrome affects your connective tissue, it can affect your entire body including your skeletal system, heart and blood vessels, eyes, skin and organs.
Physical features include:
Dental problems include:
More than half of all people with Marfan syndrome have eye problems. These include:
About 90% of people with Marfan syndrome develop changes in their heart and blood vessels. Changes that can develop include:
The changes in lung tissue that occur with Marfan syndrome increase the risk for:
Skin can become less stretchy, causing stretch marks to occur, even without changes in weight.
Because Marfan syndrome can affect tissue all over your body, a team of healthcare providers may be involved in confirming the diagnosis and developing a treatment plan.
First, they’ll take your medical history, conduct a physical exam to look for typical signs or findings associated with Marfan, ask questions about the symptoms you’re experiencing, and gather information about family members who may have had health problems related to Marfan syndrome.
Tests to evaluate changes in the heart, blood vessels and heart rhythm problems may include:
If your healthcare provider can’t see sections of the aorta through an echocardiogram, or they think a dissection may have already happened, you may need more testing.
Often a CT or MRI is also needed to check for dural ectasia. Dural ectasia is a bulging of the lining of the spinal column. It often does not cause any symptoms, but it can be associated with back pain in some people. Dural ectasia helps support the diagnosis of Marfan syndrome, but it can also occur with other connective tissue disorders.
A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome.
A genetic counselor should review your genetic testing because FBN1 test results are not always obvious. Blood tests also can be used to help diagnose other genetic mutations, such as Loeys-Dietz syndrome, that cause physical findings similar to Marfan syndrome.
If you have Marfan syndrome, you will need a treatment plan that is specific to your health issues. Some people may not need any treatment — just regular follow-up appointments with their healthcare provider. Others may need medications or surgery. The approach depends on which body parts are affected and the severity of your condition.
Medications are not used to treat Marfan syndrome, but they may be used to prevent or control complications. Medications may include:
The goal of surgery for Marfan syndrome is to prevent the aorta from dissecting or rupturing and to treat valve problems.
Decisions about surgery are based on:
Two surgical techniques can be used to replace the enlarged area of the aorta with a graft:
If you need surgery, you should choose a major health system that is experienced in this type of surgery. A better understanding of Marfan syndrome, earlier detection, careful follow-up and safer surgical techniques are giving people better results.
You may need treatment for problems that Marfan syndrome causes in other parts of your body. Healthcare providers who specialize in the lungs, bones and eyes can help you with problems in those areas.
Because of medical advances (especially heart surgeries), life expectancy for people with Marfan syndrome started to rise in the late 1970s. In the past, the life expectancy was 32 years. Today, some people with Marfan syndrome can live past age 72. Diagnosis at a young age is best because the disease can progress and pose many risks.
Because Marfan syndrome can affect different parts of your body, it’s important to make sure you have regular appointments with doctors who can help you with problems in areas where your body is affected.
A note from Cleveland Clinic
Learning that you have a genetic disorder like Marfan syndrome is concerning. You may be worried about making lifestyle changes, paying for care, having surgery and needing medical follow-up care for the rest of your life. It’s important to seek medical care from a healthcare provider who has experience in treating Marfan syndrome. Get accurate information. You may also be concerned about the risk to future children. It may help to seek genetic counseling to help understand the disease and your risk of passing it on to your children.
Last reviewed by a Cleveland Clinic medical professional on 06/03/2022.
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