Marfan syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at June 1, 2016
StartDiseasesMarfan syndrome

Connective tissue plays an important role in the proper growth and development of children and teenagers. Connective tissue is found throughout the body, and it holds bones, muscles, ligaments, blood vessels, and organs together while providing these body structures with strength and flexibility. Various proteins make up connective tissue, but when there is a flaw in one of the proteins, this can lead to Marfan Syndrome.

Contents

Definition & Facts

Antoine Marfan was a French physician in 1896 when he was conducting clinical studies that involved a five-year-old female patient who was thin and had unusually long limbs, fingers and toes. Even though an eye doctor in Cincinnati noticed similar characteristics in his brother and sister 20 years earlier, Dr. Marfan was given credit for the common name of this physical disorder.

Marfan syndrome is a disorder that affects 1 in 5,000 people of both sexes and all races. Around 75 percent of affected people inherit the condition from a parent, and around 25 percent of affected people are the first in their family to develop the condition. A person with Marfan syndrome has a 50/50 chance of passing on this genetic disorder to their child. 

Symptoms & Complaints

Marfan syndrome symptoms can appear at any time in a person’s life, but the symptoms generally show up in infancy and progressively get worse with age. Symptoms are both visible and non-visible. Visible symptoms that occur in the bones and joints include:

Non-visible symptoms occur in the heart and eyes. This includes:

Life-threatening complications can occur if the signs of Marfan syndrome are not detected as early as possible, but people with this disorder can live well into adulthood with the proper treatments. 

Causes

Marfan syndrome is a genetic disorder that is passed down from parent to child in most cases. However, a person can also have a spontaneous mutation and become the first in their family to develop this disorder. Of all the proteins that make up the connective tissue in the body, Fibrillin-1 is the one that is responsible for the cause of Marfan syndrome.

The FBN1 gene is responsible for telling the body how to make fibrillin-1, but FBN1 can become defective, which causes problems with fibrillin-1 production. Under normal circumstances, fibrillin-1 proteins attach to each other to form microfibrils, which provides strength and flexibility to connective tissue. Without microfibrils, excessive bone growth and instability of tissues in the body occur. Also, an increase in the production of a protein called transforming growth factor beta 1 occurs causing problems for the connective tissue throughout the body. 

Diagnosis & Tests

Marfan syndrome is a genetic disorder, but it cannot be diagnosed by genetic testing alone. In many cases, the physical characteristics of this disorder appear in children at a very young age, so a doctor will conduct a physical examination and look into the child’s family history to come up with a diagnosis.

There are several tests a doctor can perform to check on Marfan syndrome symptoms that are not visible. This disorder has a damaging effect on the aorta, so a doctor may conduct an echocardiogram to observe the aorta to check for any tears, an aortic aneurysm, or enlargement. They may also conduct an electrocardiogram to check the patient’s heart rate and heart rhythm.

Marfan syndrome can cause a curve in the spine, so an MRI may be conducted on the patient to look for problems in their lower back. Finally, a doctor may refer a patient to an ophthalmologist who can give an eye examination to screen for eye sight problems, cataracts, glaucoma, and check the overall health of the patient’s eyes.

Treatment & Therapy

There is no cure for Marfan syndrome, so the purpose of treatment and therapy is to minimize the destructive nature of this disorder and to prevent a patient’s early death. A patient should regularly consult with a cardiologist because the aorta can become enlarged which leads to life-threatening heart problems. Beta blockers may be prescribed to help reduce blood pressure, or in severe cases, surgery may be required to remove and replace the heart valve.

Bones and joints are heavily affected by this disorder, especially the chest bone and spine. Adolescence is a time of rapid growth, so a doctor may prescribe the use of an orthopedic brace to help keep the chest, lungs, and back growing properly and hopefully prevent the need for surgery.

Marfan syndrome affects the eyes, so it is important that the patient regularly visits an eye doctor who may prescribe glasses or contact lenses to correct the severe nearsightedness that people with this disorder have. If the lens in one or both eyes becomes dislocated, then surgery will be required. Lastly, lung problems can develop in people with this disorder, so it is important for them to see a doctor immediately if they develop any breathing problems or a persistent cough.

Prevention & Prophylaxis

Marfan’s syndrome is a genetic disorder so there is no way to prevent it from occurring, and there is no cure for it. It is important for doctors to notice the symptoms as early as possible so that they can make an accurate diagnosis and provide proper treatments.

If a prospective parent has Marfan’s syndrome, he or she can undergo genetic testing to see what the likelihood is that the trait will be passed on to his or her child. The person with this disorder should pursue a variety of therapies and avoid strenuous physical activity in order to avoid damaging his or her heart.