Marfan syndrome is an inheritable condition that affects the body's connective tissues. The primary purpose of connective tissue is to hold the body together and to provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective.
Connective tissue is found throughout the body. Therefore, Marfan syndrome can affect many body systems, which include the:
- Skeleton
- Eyes
- Heart and blood vessels
- Nervous system
- Skin
- Lungs.
Marfan Syndrome: How Common Is It?
In the United States, Marfan syndrome affects 1 in 5,000 to 1 in 10,000 people. Marfan Syndrome affects both males and females and occurs in all ethnic groups.
Marfan Syndrome: Genes and Inheritance
Marfan syndrome is caused by mutations in the fibrillin-1 (FBN1) gene. The FBN1 gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. A mutation can decrease the amount and quality of FBN1 that is deposited in connective tissue, which can lead to a weakened structural support.
Marfan syndrome is inherited in an autosomal dominant pattern, which means that one copy of the altered gene is sufficient to cause Marfan syndrome. Statistics related to the
causes of Marfan syndrome include:
- About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent.
- About 25 percent of Marfan syndrome cases result from a new mutation in the gene. These cases occur in people with no history of the disorder in their family.
Common Symptoms of Marfan Syndrome
Marfan syndrome affects people in different ways, and symptoms can range from mild to severe. In most cases, the symptoms of Marfan syndrome progress as the person ages.
Physical characteristics of people with Marfan syndrome include:
- Tall and thin body type
- Long and slender fingers
- An arm span that exceeds body height
- Unusually flexible joints
- A long, narrow face, with a high roof of the mouth and crowded teeth.
Common symptoms of Marfan syndrome include:
- Curvature of the spine
- A sunken or barrel chest
- The lens of one or both eyes is dislocated or off center
- Nearsightedness and cataracts (clouding of the lens).
Most people with Marfan syndrome symptoms have abnormalities associated with the heart and blood vessels. Leaks in the heart valves can cause shortness of breath, fatigue, and a fast, irregular heartbeat.
The aorta (the large blood vessel that carries blood from the heart to the rest of the body) can weaken and stretch, and an abnormal bulging (called an aneurysm) may develop in the weakened aorta. If the aorta tears or ruptures, serious heart problems may occur, including sudden death.
(Click Symptoms of Marfan Syndrome for more information about Marfan syndrome symptoms.)
Diagnosing Marfan Syndrome
Although there is not a specific laboratory test that is used to make a Marfan syndrome diagnosis, your doctor or geneticist (a doctor with special knowledge about inherited diseases) will rely on:
- Observation
- A complete medical history
- A physical exam
- Tests.
Doctors will diagnose Marfan syndrome if the patient has a family history of the disease, and if there are specific problems in at least two of the body systems.
Patients who do not have a family history of Marfan syndrome must have problems in at least three body systems before a Marfan syndrome diagnosis will be made. In addition, two of the body systems must show clear signs that are relatively specific to Marfan syndrome.
(Click Marfan Syndrome Diagnosis for more information about the diagnosis of this syndrome.)
Current Treatment of Marfan Syndrome
There are many different Marfan syndrome treatment options that can minimize and prevent complications. Individualized treatment programs for Marfan syndrome are available depending on which systems have been affected.
(Click Marfan Syndrome Treatment for more information about the treatment of this syndrome.)
Living With Marfan Syndrome
Living with Marfan syndrome can cause social, emotional, and financial stress. It often requires a great deal of adjustment in outlook and lifestyle. For both children and adults, appropriate medical care, accurate information, and social support are key to living with Marfan syndrome. Genetic counseling may also be helpful in understanding the disease and its potential impact on future generations.
(Click Living with Marfan Syndrome for more information about living with this disease.)
The Prognosis for Marfan Syndrome
There is no cure for Marfan syndrome, and Marfan syndrome is a lifelong disorder. However, the outlook for people with Marfan syndrome has improved in recent years. With early diagnosis and appropriate management, the life expectancy for someone with Marfan syndrome is similar to that of the average person.
Marfan Syndrome and Pregnancy
Pregnancy puts stress on the body, particularly the heart, which is why people with Marfan syndrome should be followed as a high-risk patient throughout their pregnancy.
Other Names for Marfan Syndrome
Other names for Marfan syndrome include:
- Arachnodactyly
- Marfan Syndrome, type 1
- MFS.
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