Causes Of Marfan Syndrome: Symptoms, Diagnosis And Treatment

Marfan syndrome is familial disorder of connective tissue. Connective tissues are made up of fibers that help and support many organs and structures of body. Hence in marfan syndrome many body systems are affected. Abnormality is majorly seen in musculoskeletal system, heart, aorta, eyes, and lungs.

The disease occurs when defective gene is passed from parent to the child. It may also develop as a sporadic gene mutation. Mutant gene is situated on chromosome 15. The defect lies in a gene that makes a protein called fibrillin.

People affected with marfan syndrome are usually tall and thin with abnormally long limbs.

One of the major threats in marfan syndrome is thinning to aorta, the main blood carrying vessel from the heart. Rupture of aorta is life threatening. Treatment is aimed at keeping blood pressure in check as high blood pressure can lead to aortic rupture. Most patients at some point may need surgical repair of aorta.

What Is The Cause Of Marfan Syndrome?

Marfan syndrome is a genetic disorder. The abnormality occurs in gene that is meant for production of a protein called fibrillin-1. Fibrillin plays a dominant role in the formation of connective tissue.

It helps the connective tissue maintain its elasticity and strength. The mutation of gene occurs on chromosome 15.

The disease is passed on from parent to the child. In other words it is an inherited disease. However, in 25 percent of patients there may be no known family history of this disorder. Marfan syndrome affects men and women equally. It is present in all races and geographic locations. World over the incidence of marfan syndrome is 7-18 in 100000 individuals.

Signs And Symptoms Of Marfan Syndrome

Although the defective gene is present in everyone suffering from marfan syndrome, its symptom manifestation may have variability of expression. In some people the symptoms may be mild whereas some others may develop severe symptoms. Symptoms may develop in childhood or during adulthood. Symptoms become worse with aging.

  • Musculoskeletal symptoms: The affected person is tall, long and slender. He has disproportionate long hands, legs, finger and toes. The face is narrow and long. The backbone is curved. Patient has flat feet. Breastbone protrudes out or sulks inside the chest.
  • Heart and blood vessels: Heart and blood vessels need fibrillin for maintaining elasticity and strength. Without fibrillin the wall of aorta will become weak. Weak wall will cause dilatation of aorta and the wall bulges out creating aortic aneurysm which may eventually cause life threatening rupture. It may also lead to tear in aorta a condition called aortic dissection. Patient may have pain in back, chest pain, difficulty breathing when he has aorta problem.
  • Eye symptoms: Nearsightedness, early onset of cataract and glaucoma, dislocation of lens in one or both eyes, retinal detachment leading to loss of vision.
  • Lung manifestations: Sudden collapse of lungs, recurrent respiratory tract infection, snoring and sleep apnea.

Diagnosis And Treatment Of Marfan Syndrome

Marfan syndrome is typically challenging for the doctor to diagnose as many other connective tissue disorders have similar manifestation. Diagnosis is mainly clinical. There must be two out of three; skeletal, ocular and cardiovascular problems that should be present to make the diagnosis. Usually there is strong history of marfan syndrome in the family which helps in supporting the diagnosis.

Marfan syndrome cannot be cured. The main focus of treatment is to prevent complications arising from marfan syndrome. Doctors usually prescribe medicines to lower blood pressure as rise in pressure may strain the weak aorta and there is a chance of early aneurysm and rupture. Mostly beta blockers are used to keep blood pressure under control. Often surgery is needed to correct and prevent heart and aorta related problems. Braces may be required to support spinal deformities.