Marfan Syndrome Research Paper

Jethro LeRoy Gibbs Mr. Vance Biology 24 December 2012 Strong Externally, Weak Internally There was a high debate and many aweing theories arguing if Abraham Lincoln had a disorder called Marfan syndrome or not, which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler).However, his conclusions were eventually proven wrong. But despite the false accusations, Marfan syndrome does exist in this world. Anyone who inherits Marfan syndrome faces the real risks and threats which contain devastating consequences. For example, a hard blow to the upper chest can result in immediate death because the connective tissues are alarmingly weak which can lead to serious heart complications and interna l bleeding (Schnitzer 198). Abnormalities in the skeleton, heart, and eyes all contribute to the characterization of Marfan syndrome (Schnitzer 198).Any affected or damaged connective tissues can create or cause internal complications, especially concerning with the heart and the aorta (â€Å"Marfan Syndrome†), which is the most serious life threatening risk that can prove to be fatal (Jay). Marfan syndrome is an inherited disorder, characterized by several malfunctions including long bone overgrowth and several abnormalities of the skeleton, heart, and eye, which is caused by a defect and negative mutations in the fibrillin gene or fibrillin-1 that can weaken and devastate the connective tissues throughout the body guaranteeing further complications.In other words, Marfan syndrome weakens the connective tissues, augmenting the risk of damage in bone overgrowth, the skeleton, heart, and eye and at the same time affecting multiple crucial systems throughout the body. Marfan sy ndrome is a no laughing matter, according to four significant reasons: its expanded history, problematic causes, genetic description, and current research. First, Marfan syndrome was carefully observed in the late 1800 century. In 1896, a young patient was meticulously examined by Antoine Bernard – Jean Marfan, hence the name Marfan syndrome, who observed and first described the disorder (Keane).Marfan observed that the young patient had developed long, thin digits – such as the fingers, thumbs, and toes on the hands and feet – as well as the development of unusual long limbs (Keane). Little did he know, however, that this disorder was caused by mutations in the fibrillin gene that encodes a significant component, connective tissues (â€Å"Marfan Syndrome†). But the cause was eventually discovered and identified by researchers in 1991, with the help of a generous foundation, the March of Dimes (â€Å"Birth Defects†), which is the second reason why Marfan syndrome is a serious matter.Fibrillin is a protein found in different areas of the body such as the aorta, ligaments, bones, and the lungs (â€Å"Birth Defects†). Thus, fibrillin helps regulate a transforming growth factor called Beta that plays a crucial role in tissue growth and repair (â€Å"Birth Defects†) which helps stabilizes many significant areas throughout the body. Genetic description becomes the third reason. Marfan syndrome can be inherited by anyone (â€Å"Marfan Syndrome†), making it autosomal dominant (Jay).Autosomal dominant basically means that one parent can be diagnosed with the disorder (â€Å"Marfan Syndrome†) and have a 50-50 chance of passing it on to their children (Jay). The bottom line is that Marfan syndrome is a dominant genetic trait and that everyone can inherit it under certain circumstances (â€Å"Birth Defects†). Finally, being the fourth reason, current research is still underway, despite the fact that the re is no cure yet. However, beginning in the year 2007, a clinical trial began comparing the effects of two different medicines in the effort to reduce the rate of progression of aortic complications (â€Å"Birth Defects†).Unfortunately, studies show that about 25 percent of cases dealing with Marfan syndrome are sporadic, or in other words, caused by a new mutation (â€Å"Birth Defects†). Affecting as many as one in every 10,000 to 20,000 people (â€Å"Donohue†), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are striving their best to prevent or slow the symptoms of Marfan syndrome and to reduce the complications as well.Marfan syndrome comes with some unfortunate factors such as the signs and symptoms, test screening and diagnosis, and the prognosis also known as the outcome. First, signs and symptoms are crucial to identify as soon as possible. The symptoms of the disorder include, but are not limited to, flat feet, chest that sinks in or sticks out, thin and narrowed face, small lower jaw, nearsightedness, dislocation in the lenses of the eye’s, learning disability, and scoliosis or when the spine curves to one side (Board).However, identifying the symptoms of the disorder can prove difficult (Jay) since age is a crucial factor involved (â€Å"Marfan Syndrome†) and that the establishment of a specific, formal test still does not exist (Jay). In other words, doctors become aware of this disorder in people only when the noticeable signs occur caused by the disruption of the connective tissues. Also, the disorder is present at birth even though it may not be diagnosed until at a later time (â€Å"Marfan Syndrome†).But when the symptoms do occur, the hands, fingers, feet, and toes may be unusually long as well as the tallness in height with long, thin arms and legs (Schnitzer 198). Skeletal abnormalities include a few deformities of the chest and face (Schnitzer 198). Other symptoms deals with the eyes, such as the dislocation of the eye’s lenses (â€Å"What is†), and the lungs, which can increase the risk and trigger asthma, bronchitis, pneumonia, and collapsed lungs (â€Å"Marfan Syndrome†). Secondly, the diagnosis of this syndrome can be determined by some medical evaluation.Based on a clinical diagnosis, the heart, eyes, blood vessels, spine, and skeletal system are most likely to be checked out by medical professionals (â€Å"Marfan Syndrome†). When diagnosing a disorder, machines and methods are used to receive valuable information about the status of it. For example, to monitor the changes in the heart and blood vessels, chest x-rays, an electrocardiogram (ECG) and an echocardiogram – which is a type of machine that uses high frequency sound waves to produce a moving picture – all may be used in the process (â€Å"Marfan Syndrom†).Thirdly, the outcomes may seem very challenging to those who have the disorder, but there is a feasible way to live through it all. Changes in the heart and blood vessels were developing in about 90 percent for those who inherit the disorder (â€Å"Marfan Syndrome†). Because of this change, people must restrain from heavy activities and exercise as well as strenuous competitive sports which can all place high stress on the heart and aorta (â€Å"Birth Defects†). Thus, participation in less vigorous activities – such as walking, golfing, swimming, and slow-paced tennis – was consider safer to do (â€Å"Birth Defects†).But despite the helpful guidance and support of many programs, treatments, and changes, 50 is usually the average age of death for those who sadly have the disorder (Schnitzer 198). Heart complications and failure is usually a cause for this. However, there have been records and reports where patients have survived beyond the age o f 50, well into their 60s (Board). Despite whether the factors are negative or not, inheriting this type of disorder requires immediate attention and possibly significant changes as well.People who inherit Marfan syndrome will most likely face devastating changes due to the many negative complications and the risks factors that follows. Concerning with the complications, there are four main areas where the disorder can create devastating results which include the heart, face, eyes, and chest. Heart malfunctions is the first one, which is the most serious not to mention the most deadly complication of all (Jay). This is because the aorta, connected with the heart, could easily rupture due to enlargement (Jay).Cardiomyopathy, which is basically the enlargement and the weakening of the heart muscle, is another problem because this could lead to heart failure (â€Å"Marfan Syndrome†). But the bottom line for the heart complications associated with the disorder is that the large b lood vessels connecting to the heart may gradually weaken and expand, which can eventually rupture causing death (Schnitzer 198). Complications in the eye, such as nearsightedness and the dislocation of the lenses, can be corrected with glasses or contact lenses; however, more advanced methods may include the usage of medical lasers (â€Å"Birth Defects†).Other complications involve with the chest – in which it may protrude outward or inward – joints – where it becomes increasingly flexible – and the face – where patients may have a long, narrow face and the roof of the mouth may be higher than normal (â€Å"Marfan Syndrome†). Risk factors are another concern, closely following the complications of the disorder. For example, activities that demand such strength and vigorous energy should be avoided at all cost for those who inherit the syndrome because of the following risks, capable of damaging the aorta and eyes (Jay).When someone d iscovers that a family member has Marfan syndrome, it would be the best course of action to visit a genetic counselor to discuss and ascertain who else have or may have inherit the syndrome. Another example involves with pregnancy. If a woman inherits the disorder and becomes pregnant, not only is she at great risk of her aorta rapidly enlarging, causing it to burst resulting in death, but she is also at risk of passing the inherited disorder to her newborn (â€Å"Birth Defects†).Thus it is considerably wise when one or the other parent inherit the syndrome speaks to a genetic counselor and avoid pregnancy to avoid death in return. Despite the numerous complications and risk factors associated with the disorder, there are many feasible solutions and methods on better controlling the outcome of the situation and matter. Despite the many complications associated with Marfan syndrome, there are several ways to fight back and come up with positive solutions using the advantage of special treatments and knowing how to prevent it. First, knowing how to fight back the disorder can be helpful.Some will need regular, medical check-ups, while other may need surgery. Otherwise, three significant steps can be taken to either detect or monitor the disorder thus preventing further complications. One, a medical examination by a cardiologist can examine the heart and other vital organs (Jay). Two, examination of the eye to check the position of the lens on a regular basis can prove crucial (Jay). Three, the participation of genetic counseling is recommended where patients are informed about the risks of passing the disorder on to children and are given advice to deal with the disorder (Jay).Another way to treat the syndrome is using beta blockers, which are high blood pressure medications where they help reduce the strength and frequency of heartbeats (â€Å"Birth Defects†). Surgery is the last defense against the disorder for many. Surgery is only required when the aorta dilates or stretches too much to the extent where necessary repairs need to be made to avoid extensive internal damage (â€Å"Birth Defects†) which can be fatal. Secondly, prevention is harder than it looks when it comes to Marfan syndrome, since the symptoms usually begins at a very early age in either childhood or adulthood.Thus, there is really not a successful way to prevent the disorder (â€Å"Birth Defects†). However, if the diagnosis can be detected at an early age, there is the opportunity where help and treatment can increase the chances of avoiding serious complications (â€Å"Birth Defects†). Although there are several feasible solutions and treatments that can be used to the full extent in treating the disorder, the many fatal risks are still present, and alarmingly high.The one, inherited disorder where connective tissues are consequently very weak caused by the defect in a gene called fibrillin-1 which results in many internal organ comp lications – such as the skeleton, heart, and eyes as well as the development in the long thin limbs and digits – is Marfan syndrome which can become increasingly deadly if not given the proper treatment it deserves. People who have the disorder suffer physically, internally, and mentally. Physically, they can develop skeleton abnormalities, changing the way how they look, and develop long, thin digits making them look unusually tall and thin.Internally, people can suffer all kinds of damage in the heart, eyes, skin, bones, blood vessels, the aorta, and the lungs. The disorder mentally affects both the patient and their relations with others, forcing change in their lives. Even though a cure for the disorder has not been successfully discovered, treatments and versatile methods have been introduced throughout the years since its discovery by Marfan himself. And, researchers today are still striving hard through their own success, failures, and teachings, hopefully openi ng up the gates to a cure of this devastating disorder, Marfan syndrome.Works Cited â€Å"Birth Defects. † March of Dimes. March of Dimes Foundation, n. d. Web. 20 Mar. 2013. . Board, A. D. A. M. Editorial. â€Å"Marfan Syndrome. † PubMed Health. U. S. National Library of Medicine, 18 Jan. 0001. Web. 25 Mar. 2013. . Donohue, Paul G. , Dr. â€Å"Marfan Syndrome Is a Genetic Abnormality Marfan Syndrome Is a Genetic Abnormality. † Providence Journal [Providence] 7 Oct. 1986, ACCENT sec. : C-13. ProQuest Newsstand. Web. 20 Mar. 2013. . Keane, Martin G. , and Reed E. Pyeritz. â€Å"Medical Management of Marfan Syndrome. † Circulation. American Heart Association, n. d. Web. 20 Mar. 2013. . Kugler, Mary, R. N. â€Å"President Lincoln and Marfan Syndrome. † About. com Rare Diseases. About. com, n. d. Web. 23 Mar. 2013. . â€Å"Learning About Marfan Syndrome. † Learning About Marfan Syndrome. Genome. gov, n. d. Web. 25 Mar. 2013.