Marfan Syndrome - Medical Malpractice Lawyers
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Marfan Syndrome - Medical Malpractice
Marfan syndrome is an inherited connective tissue disease that causes changes in growth and in the mobility of the connective tissue around the blood vessels and joints. The connective tissue becomes defective from birth and many body areas are affected. It occurs in both genders equally and is found in all races at a rate of one in 5000 individuals.
The symptoms of Marfan syndrome differ from person to person. Some are only minimally affected while others have more severe symptoms. The body areas most affected include the skeletal system. Patients with this disorder have very tall stature and are typically slender. Their joints tend to be really loose and the arms and legs are disproportionately longer than the trunk. This means that the arm span is longer than the height in most cases. The roof of the mouth is typically arched taller than normal and the teeth are crowded. The breastbone or sternum can be indented or protruded and scoliosis or flat feet are not uncommon.
At least fifty percent of all people with Marfan syndrome suffer from a dislocation of the lens of the eye. The dislocation can be minor or visible with the naked eye. Retinal detachment can occur along with the dislocation of the lens. Most people with Marfan syndrome are near sighted and some can develop glaucoma early in life or can develop cataracts of the lenses of the eye. This is all because the connective tissue is not strong enough in the eye to keep the lens in place or the retina in place.
The heart and blood vessels can be damaged by Marfan syndrome. The wall of the aorta is particularly affected and this can lead to aortic dissection or rupture of the aorta, which is almost always fatal. The valves of the heart can leak, leading to a heart murmur and heart problems. Fatigue, shortness of breath and palpitations are the major symptoms of an abnormal heart.
The dura surrounding the brain can weaken and stretch, weighing on the vertebrae of the lower part of the spine. The dura lining can weaken the bone around the spinal cord, which can lead to paralysis or pain in the legs. The condition is called dural ectasia.
The skin can easily form stretch marks within the skin when the person with Marfan syndrome changes weight. The Marfan syndrome person can also develop inguinal hernias because the connective tissue is weak and cannot hold the inguinal contents within the abdomen. People with Marfan syndrome also are at greater risk for collapse of the lung and with breathing problems like sleep apnea and snoring.
Marfan syndrome is a genetic disorder caused by a single gene mutation that determines what the structure of the fibrillin-1 protein looks like. This protein is important in connective tissue formation. The disease is autosomal dominant, with the possibility of giving it to fifty percent of children. Spontaneous mutations are also a possibility in 1 out of 10,000 births. About a quarter of all Marfan patients are due to a spontaneous mutation. Different mutations in the gene are found within different families so Marfan syndrome does not look exactly the same in all patients who have it.
There is no blood test or biopsy for Marfan syndrome. It takes a careful history and physical examination in order to diagnose the disease. The doctor needs to ask about family history and do a measurement of arm span versus height in order to see if this reflects Marfan syndrome. A high, arched palate is also consistent with Marfan syndrome. An eye exam can show dislocated lenses and an echocardiogram can look at the aorta and at the function of the valves of the heart.
Genetic analysis can be done for Marfan syndrome but it is an expensive prospect. The genetic testing would look for abnormalities in the gene responsible for Marfan syndrome.
There is no cure for Marfan syndrome but changes can be observed and complications corrected. Doctors can correct a dislocated eye lens and can follow the heart and aorta for anomalies. If the aorta is getting bigger, surgery can be done to prevent a rupture of the aorta. This is tricky surgery and it doesn't always work.LEGAL HELPLINE: ☎ 855 804 7125
The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here