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Marfan Syndrome – Symptoms, Causes, Treatment

What is Marfan Syndrome?

Marfan syndrome, or Marfan’s syndrome, is a genetic disorder wherein the connective tissue is affected. The connective tissues’ primary purpose is for the body to be held together and a framework to be provided for development and growth. People affected by this condition are unusually tall having long, thin fingers and long limbs. In this syndrome the connective tissue does not function as it should function. And since it is found all over the body, body systems are affected.


This condition s inherited being a dominant trait. A gene called FBN1 carries it that encodes fibrillin-1, a connective protein. Everyone has one pair of FBN1 genes. And since this is a dominant trait, one can have Marfan syndrome if he inherited even one FBN1 gene from his parents.

This syndrome has an expression range, starting from mild up to severe. Defects in heart valves and aorta are the most serious complications. The syndrome can affect the eyes, lungs, dural sac, hard palate and the skeleton as well. Marfan syndrome can affect everybody, men, women and children.

Marfan Syndrome Symptoms

Marfan syndrome can affect different kinds of people in various ways. Some will have mild symptoms, while others will have severe ones. The symptoms of Marfan syndrome affect the body systems.

Skeleton

Those who are affected by Marfan syndrome are very tall, thin and are loose-jointed. The skeleton’s long bones are affected by the syndrome making the arms, fingers, toes and legs disproportionately long compared to other body parts. Other symptoms include long and arrow face and an arched mouth’s roof, making the teeth crowded. Other problems in skeletal system include scoliosis or curvature of the spine, the breastbone that is indented or protruding, and flat feet.

Eyes

Half of the patients with Marfan syndrome are experiencing dislocation of their eyes’ lenses. The lenses are either higher or lower compared to the normal one. The dislocation can be minimal, although it can also be pronounced and obvious to some. Patients can also experience nearsightedness, glaucoma and cataracts.

Heart and blood vessels

Most of the patients experience heart problems. Because the connective tissue is affected, the aorta’s wall is weakened and stretched. This will lead to the aorta being torn up and ruptured that may lead to serious heart problems or worst, death. Symptoms may include shortness of breath, palpitations and fatigue.

Nervous system

Dura, a membrane that contains fluid, surrounds the brain and the spinal cord. It is consisted of connective tissue. As the patient gets older, the dura weakens and stretches. The changes can lead to mild discomfort, or worse, it may lead to pain in the abdomen and legs.

Skin

Most of the patents with Marfan syndrome experience stretch marks even though there is no weight change. Although this has no health risk, one can develop abdominal or inguinal hernia, a bulge will develop which contains the intestines’ part.

Lungs

Patients cannot experience noticeable problems with their lungs, as connective tissue is making the tiny air sacs in the lungs less elastic. However, if they were stretched and swollen, the lung may collapse. Others may also have breathing disorders related to sleeping, like snoring.

Marfan Syndrome Causes

A defect or mutation caused the Marfan syndrome. The gene determines the fibrillin-1 structure. A person affected by this syndrome is born with it, but can’t be diagnosed until later. The defective gene can be inherited. If the person has a child, the child may have a 50-50 chance of having the syndrome.

Even though Marfan syndrome patients are affected by the same gene, various mutations are found in each family. Not everyone will experience the similar condition and characteristics in the same degree.

Marfan syndrome is common, affecting 1 in every 10,000 to 20,000 people. This is found in all ethnic backgrounds and races.

Marfan Syndrome Treatment

Types of doctors that can treat Marfan syndrome

Different body systems are affected by Marfan syndrome. Therefore, it is recommended that different kinds of doctors must care for a patient. A general practitioner can oversee the whole routine health care. The doctor can also refer the patient to different kinds of doctors, like cardiologist, one who knows heart disorders. One can also go to orthopaedist, one who knows about bones, and ophthalmologist, a doctor who knows about eye disorders.

Treatment options

Marfan syndrome has no cure. To develop a cure, scientists must identify and change the gene that is responsible for the syndrome. But, there is a range of treatment options that can help minimize and prevent any complication. And these options can be used by different doctors specializing in different body systems.

Skeletal

Evaluations are done every year to detect if there are changes in the sternum or spine. This is important, especially when there is a rapid growth happening, like adolescence. Malformation, the serious one, can lead to improper functioning of heart and lungs. In other cases, surgery or orthopaedic braces are recommended.

Eyes

It is important to have regular and early eye examinations to identify and correct vision problems connected to Marfan syndrome. Eyeglasses or contact lenses will correct the problem. There are cases wherein surgery is needed.

Heart and blood vessels

It is necessary to have regular check ups to evaluate the aorta’s size and how is the heart working. It is important that the problems are identified early to prevent any life-threatening complication.

Nervous system

If the swelling of the spinal cord’s covering happens, medications can help minimize the pain.

Lungs

It is advisable and is important that patients with Marfan syndrome should not smoke. This is so because they are at risk for lung damage. If the patient experiences problem related to breathing during sleep, it is best that he seek doctor’s help.

Maintaining a healthy lifestyle and eating a balanced diet is very important to slow down Marfan syndrome. No vitamin or dietary supplement can cure or prevent the syndrome. It is also important that they engage in moderate aerobic exercises. But it is not advisable that patients should engage in contact sports, isometric exercises and competitive athletics.

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