Connective Tissue Disorder

The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds.

• The severity of Marfan syndrome varies from one individual to another and it typically progresses over time.
• A tall, slender build is characteristic of Marfan syndrome.
• Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system.
• Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue.
• There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history and examination.
• There is no cure for Marfan syndrome. However, a range of treatment options are designed to minimize and prevent complications.

Marfan syndrome is an inherited disorder of connective tissue, although about one-quarter of all cases occur without any family history of the syndrome. Marfan syndrome is caused by a defect in the fibrillin 1 gene on chromosome 15. It affects both men and women of all ethnic backgrounds. About 1 in 5,000 people have Marfan syndrome.  The aorta is affected in Marfan syndrome.  Photo © A.D.A.M.

Updated July 27, 2009.

Symptoms
Marfan syndrome affects many areas of the body. Symptoms may include: •tall and thin body type
•long arms, legs, fingers, and toes
•flexible joints
•curvature of the spine (scoliosis)
•chest sinks in (pectus excavatum) or sticks out (pectus carinatum)
•weak and fragile aorta, the main artery that carries blood away from the heart – it may become enlarged (aortic dilation) or develop a bulge (aneurysm), or may tear and burst (aortic dissection)
•severe nearsightedness, and sometimes dislocated lens of the eye

A person with Marfan syndrome has at least 3 symptoms in different parts of the body.

Diagnosis

The doctor may 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 known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.

If Marfan syndrome is suspected, a thorough physical examination should be done, as well as special testing.
This would include: •A complete family medical history and family tree
• Echocardiogram of the heart by a cardiologist
•Examination of the skeleton and measurement of body proportions
•Full eye examination by an eye doctor
It is possible that a person may have a few of the symptoms of Marfan syndrome, but the diagnosis is not certain. The person may have a different connective tissue disorder, such as Ehlers-Danlos syndrome or Loeys-Dietz syndrome .   A diagnostic test for Loeys-Dietz syndrome is available.

Treatment

There is no cure for Marfan syndrome, but there are treatments that can help prevent or minimize its complications.
The biggest threat to people with the syndrome is the sudden tearing of the aorta, a medical emergency which can be fatal.
Therefore, close monitoring by a cardiologist and surgical repair of a weak aorta will save many lives.
Blood pressure medications can also reduce stress on the aorta, as can avoiding strenuous exercise and contact sports.

References:

1.) Health.com By Mary Kugler, R.N.   Updated July 27, 2009.

2.) MedcineNet.com