Marfan’s Syndrome

Marfan’s Syndrome

Marfan’s syndrome is a genetic disorder that effects the connective tissue within the body (The Marfan Foundation, 2015).  According to The Marfan Foundation (2015) “Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.” Fibrilin-1 is the major building blocks of microfibrils which constitutes the structural components of the suspensory ligaments (Chen, 2014). These suspensory ligaments serve as substrates for elastin in the aorta and many other connective tissues which weakens the aortic wall (Chen, 2014).  “This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body” (The Marfan Foundation (2015).

Marfan’s syndrome can have many different effects on the people that have it.  These include different skeletal features such as being tall, slender, loose jointed, disproportionately long fingers and toes, scoliosis, flat feet, and others (Shiel, 2012). Some people may have problems with their eyes such as retinal detachment, glaucoma, and cataracts; others may also have problems with their cardiovascular systems such as aortic dilatation, defects in heart valves, and even heart murmurs (Sheil, 2012).  The nervous system can be affected by dural ectasia; as well as the skin being affected by developing stretch marks without weight change, and lung problems such as the risk of lung collapse, snoring, and sleep apnea (Shiel, 2012).

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Marfan syndrome affects 1 in 5,000 people that includes all women and men of all ethnicities and races (The Marfan Syndrome, 2015).  It is a mutation or defect in the gene that determines the structure of fibrilin-1 which is important with connective tissue (Shiel, 2012). Although people may not be diagnosed until later in life with Marfan syndrome they are born with it and each person with Marfan syndrome has a 50 percent chance of passing this on to their offspring (Shiel, 2012).  Although Marfan syndrome cannot be definitively diagnosed by a laboratory test, doctors rely on evaluating the client by looking at their family’s medical history, skeletal frame for the ratio of arm and leg to trunk size, an eye examination, and lastly heart tests such as echocardiograms (Shiel, 2012).

Although there is no cure for Marfan syndrome there are many things that may be done to help to prevent the complications that occur (Shiel, 2012).  Skeletal issues may be fixed by orthopaedic braces or surgery to help with damages and disfigurations, while the eyes may need an easier fix such as contacts and eye glasses (Shiel, 2012). Electrocardiograms and regular check ups are recommended to watch the aortas size and functioning of the heart to prevent life threatening complications and due to the increased risk of lung damage, people if Marfan’s syndrome should not smoke (Shiel, 2012).

There can be many psychological and emotional stressors that come along with Marfan syndrome that people and families have to deal with.  These people have to learn how to deal with the lifestyle and complications that Marfan syndrome may bring to a person and adjust to that lifestyle and outlook (Shiel, 2012).  Although this is a lifelong syndrome, outlook on life has improved since the 1970’s (Shiel, 2012).  Back then the life expectancy of the person with Marfan syndrome was two thirds of the healthy person without the disease, while with improvements and treatments the life expectancy is similar to a healthy person (Shiel, 2012).  Overall with regular checkups and taking care of their bodies, people with Marfan syndrome can live a somewhat normal life.  With receiving the proper surgeries and procedures needed they can also live a healthy life with as good of a life expectancy as any person without Marfan syndrome.

Works Cited

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Chen, H. (2014, November 17). Genetics of Marfan Syndrome. Retrieved February 13, 2016, from http://emedicine.medscape.com/article/946315-overview#a5

Shiel, W. C. (2012, August 1). Marfan Syndrome Symptoms, Causes, Treatment. Retrieved February 13, 2016, from http://www.medicinenet.com/marfan_syndrome/page5.htm

What is Marfan Syndrome? (2015). Retrieved February 13, 2016, from http://www.marfan.org/about/marfan