One of the more exotic diseases known in the medical community is called Marfan Syndrome -- a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body properly grow and develop.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. According to the Marfan Foundation, features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child. Much more detailed information is found at this site: https://www.marfan.org/about/marfan.
According to the National Institutes for Health (NIH), individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (Scoliosis or Kyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax).
A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.
The features of Marfan syndromecan become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood. More information on this health care issue is located at this website: https://ghr.nlm.nih.gov/condition/marfan-syndrome.
Another related NIH site that has more detailed clinical data is located here: https://www.genome.gov/19519224/learning-about-marfan-syndrome/.
According to KidsHealth, several different types of doctors may be involved in diagnosing and caring for someone with Marfan syndrome. They include a geneticist (a doctor who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopedist(bone doctor).
Symptoms of Marfan syndrome may be apparent when a child is very young, while some people don't have noticeable symptoms until their teen years or even adulthood. But some people go through life never knowing they have the disease, and that can be dangerous. Getting diagnosed early means doctors can do a lot to help keep someone healthy.
Teens with Marfan syndrome must be followed closely by a team of doctors. Because teens' bodies grow and change so quickly, most teens will need echocardiograms at least once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems. Many of the complications of Marfan syndrome can be managed with medications and, if necessary, surgery.
Doctors may prescribe special medicines called beta blockers and ARBs (angiotensin-receptor blockers), which work to lower blood pressure and reduce wear and tear on the blood vessels. This can often delay the progression of aortic dilation. If the aorta does eventually widen to a potentially dangerous size, or if valve leakage becomes a problem, a doctor may recommend surgery to repair or replace the damaged parts of the heart.
Marfan syndrome affects people differently, so life is not the same for all teens who have it. Some have severe cases of Marfan syndrome and many symptoms that require lots of medical care. Others have such a mild form that they simply need to have a checkup once a year. There are lots of things people with Marfan syndrome can do to help keep themselves healthy. The most important is to avoid putting extra stress on the heart.
That means avoiding any sport where there's a lot of running, physical contact, muscle straining, or the chance of getting hit in the chest — things like basketball, football, baseball, gymnastics, weightlifting, and track. One thing people who have Marfan syndrome should never do is smoke or use tobacco products. More information is available at this website: http://kidshealth.org/en/teens/marfan.html.
According to the March of Dimes, here’s what you need to know about Marfan syndrome:
· Marfan syndrome usually is inherited. This means it’s passed from parents to children through genes.
· If you or a family member has Marfan syndrome, talk to a genetic counselor to learn about the chances of your baby having it.
· People with Marfan syndrome can have a range of health problems and may need special medical care.
· With the right treatment, people with Marfan syndrome can live as long as people without the condition.
Marfan syndrome is a birth defect. Birth defects are health conditions that are present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works. More details are located at this website: http://www.marchofdimes.org/complications/marfan-syndrome.aspx.
Marfan syndrome should be diagnosed as early as possible if you suspect that your child may be symptomatic, especially if one parent is already suffering from this disease. Early diagnosis is key to preventing a serious medical situation later in the child’s physical development. Consult your doctor or a medical professional if you feel that testing should be done.
Until next time.