Marfan Syndrome Signs, Symptoms, Causes, Treatment and Life Expectancy

Picture of syringomas on the eyelids of a patient with Marfan syndrome.

• Marfan syndrome is a genetic disorder characterized by problems with connective tissue in the body. Connective tissue is the material that holds the cells and organs of the body in their proper location.
• About 1 out of every 5,000 people have Marfan syndrome.
• It affects both men and women as well as people of all racial and ethnic groups.

People are born with Marfan syndrome, but the age at which signs and symptoms appear is variable. Some people with Marfan syndrome show signs in early childhood or even at birth, while others may not have signs or symptoms until teens or adulthood. 

Body symptoms that are most affected by Marfan syndrome are:

Skeletal Issues

• Long, narrow face
• Roof of the mouth may arch and causes crowded teeth
• Scoliosis

Eye Problems and Diseases

• Vision loss
• Glaucoma
• Cataracts
• Retinal detachment

Cardiovascular System (Heart and Blood Vessels)

• Aortic dissection or rupture
• Fatigue
• Shortness of breath
• Palpitations

Nervous system problems like dural ectasia, which causes:

• Radiating pain in the abdomen
• Numbness
• Weakness in the legs

Skin Problems

• Stretch marks
• Abdominal hernia

Lung Problems and Disorders

• Collapsed lung (pneumothorax)
• Sleep-related breathing disorders
• Snoring
• Sleep apnea

The damage to connective tissues in people with Marfan syndrome results in characteristic signs and symptoms. Symptoms include:

• Tall, thin body
• Long arms and legs
• Elongated fingers and toes
• Highly flexible or hyperextensible joints
• Curved spine
• Flat feet
• Abnormal shape of the chest (sunken in or protruding)
• Stretch marks on skin
• High, arched palate
• Crowding teeth

There are other potential health problems associated with Marfan syndrome that are more difficult to detect, including:

• Heart problems and enlargement
• Aneurysm formation or dissection of the aorta
• Sudden lung collapse
• Eye problems such as nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts.

Pregnancy may increase the risk of heart complications.

Signs and symptoms vary in severity among affected people. In some people, the symptoms are progressive, meaning that they worsen over time.

Marfan syndrome is caused by a defect (mutation) in the FBN1 gene that controls the production of fibrillin-1. It is inherited in an autosomal dominant pattern, meaning that only one copy of the defective gene is necessary (from either the mother or father) to cause the condition. However, about 25% of cases are sporadic, meaning that they arise as a result of new mutations in the FBN1 gene in people who do not have a family history of the condition.

The defective fibrillin-1 protein in Marfan syndrome affects the structure and function of microfibrils, threadlike structures that are part of the connective tissue of the body. This leads to characteristic signs and symptoms described earlier.

A physical examination may reveal characteristic physical features of Marfan syndrome. The diagnosis is confirmed by genetic testing to reveal the mutation in the FBN1 gene. 

Marfan syndrome treatments are directed at controlling the underlying symptoms. For example:

• Surgeries may be required to correct problems with the heart or aorta.
• Surgical procedures can also correct the appearance of an abnormal breastbone.
• Bracing and other treatments can help relieve scoliosis, or curvature of the spine.
• Drugs to lower blood pressure may help prevent enlargement of the aorta.

With access to modern medical management, most people with Marfan syndrome have a normal life expectancy. However;some people have died of the complications of Marfan syndrome. There is no cure for Marfan syndrome.

Since Marfan syndrome results from a genetic defect, there is no known way to prevent it from developing.