Marfan's Syndrome

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What is Marfan's Syndrome?

Marfan's syndrome is an inherited disorder of connective tissues within the body. It affects the skeleton, joints, eyes and cardiovascular structures. The skin and lungs are also frequently involved. The clinical expression of the disorder is largely variable and some patients may have marked abnormalities in one system (e.g. cardiovascular) with only minor changes in others (e.g. minimal skeletal changes). Two of the major systems must be involved to avoid over-diagnosis of the condition.

Abraham Lincoln was thought to have Marfan's syndrome as he possessed many of the physical characteristics of Marfan's. Patients with Marfan's syndrome are usually tall, thin, with long arms, legs and fingers, and often scoliosis (curvature of the spine) and pectus deformity (abnormality of the chest wall).

The image below is indicative of Lens subluxation associated with Marfan's Syndrome.

Who gets Marfan's Syndrome?

Marfan's syndrome is one of the most common autosomal dominant inherited disorders of connective tissue. It is thought to affect approximately 1 in 5000 people worldwide, most of who get the disorder passed on from their family. However, around 25% of individuals have no family history and develop the disorder from random mutations in the particular genes. These latter cases are more severely affected.

Predisposing Factors

Marfan's syndrome arises from a mutation in a gene that codes for a protein called fibrillin, which forms the structural components of connective tissue in the aorta, joint ligaments and in the eye. Abnormal fibrillin in reduced integrity of these structures.

Progression

As fore mentioned, Marfan's syndrome develops due to an inherited or random mutation in the gene coding for fibrillin which is important in maintaining the structure of connective tissues within the body. When this is abnormal there are progressive changes in some of the tissues such as gradual dilation of the aorta (the major blood vessel leaving the heart to supply the rest of the body). Approximately 80% of patients will develop aortic complications. The lens of the eye, ligaments and airways also gradually lose their integrity.

Patients may be diagnosed with Marfan's at birth, during childhood or later in life. The more severe cases are usually diagnosed early. Many patients present with features such as tall stature and an arm span that exceeds height. However, lens dislocation, aortic dilatation or skeletal manifestations (such as pectus deformities or scoliosis) may also be the first presentation. Many of the manifestations of the disease change with age so diagnosis can be difficult in children. Marfan's syndrome causes a host of physical abnormalities but is not thought to affect inteligence.

Patients with Marfan's are at increased risk of early cardiovascular death from aortic aneurysms (dilations) and dissection (splitting of the wall). Family history of these complications, male sex and extreme physical characteristics are associated with higher cardiovascular risks. If you suffer this disorder you will be advised to make several lifestyle changes to reduce your risk.

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