Connective Tissue Disorder Project

Marfan Syndrome and Scleroderma

Marfan Syndrome

Signs and Symptoms: Marfan Syndrome often affect the connective tissue of the heart, lungs, eyes, bones, and the covering of the spinal cord. It can also be life threatening. Marfan Syndrome can affect the aorta, which is the main blood vessel that supplies oxygen and rich blood to the body. The aorta can stretch and grow weak, if it stretches and grows week, then it may tear and leak blood. The symptoms vary from person to person because Marfan Syndrome depend on how the condition affects the body.

Pathogenesis: The mutation in the FBN1 gene causes Marfan Syndrome.

Diagnosis: Marfan Syndrome is diagnosed based on someones medical and family histories. Doctors give someone a physical exam and also consult a set of guidelines called "Ghent Criteria."

Management: It's not easy to trear Marfan Syndrome because the signs and traits are similar to the signs of other connective tissue disorders. Doctors usually recommend one or more tests to help diagnose Marfan Syndrome. There is no cure for the syndrome because in order to have a cure, scientists have to identify and change the specific gene that is responsible for the disorder before birth. There are many treatment options to prevent complications.

Prognosis: 1 in 10,000 can get Marfan Syndrome. Survival of the syndrome is between 50% to 70% within 5 years.

Epidemiology: There is no certain population that is affected. It ranges within people.


Signs and Symptoms: Skin changes by the hardening of the skin, Particularly on the hands, arms, face and on trunk and legs. Swelling in the hands and feet, usually occur in the morning. Difficulty bending fingers. Fingers turn bluish or pale, fingers feel tingly, numb, or cold.

Pathogenesis: Scleroderma occurs when the body produces and accumulates too much collagen in tissues.

Diagnosis: Scleroderma develop gradually and presents itself in different forms, often requires the expertise of Rheumatologist, a doctor who specializes in joint and connective tissue.

Management: The treatment options are none, Scleroderma cannot be cured. There are some medications to help control Scleroderma symptoms, which are dilating blood vessels and immune system.

Prognosis: Patients with ILD have 9 years of survival of approximately 30%. Patients with Scleroderma with no severe involvement of organ system have 9 years survival rate of 72%.

Epidemiology: The adult population in the United States is 20 per million per year. More black women get Scleroderma compared to white women.