How the body is held together and how it holds its shape are not ideas that most of us will ponder for any length of time. However, as a complicated construction project, our bodies have many parts that must individually work properly in order for our body structure to operate in a healthy manner. When our bodies are built with defective genes, many different structural problems of varying severity can occur. One such structural problem occurring from genetic abnormalities is Marfan Syndrome.


Marfan Syndrome is one of the most common diseases of the connective tissues that hold our cells together. The elastic fibrous material of connective tissues is made of protein and its operation normally ensures that our cells and organs are held in place.


In those with Marfan Syndrome, these connective tissues are not as effective as they should be to withstand the typical physical stresses within the body. At the same time, the ineffectiveness of the connective tissue prevents them from retaining as much of a specific chemical that promotes cell growth and cell reproduction.


While Marfan Syndrome is one of the most common connective tissue diseases, such diseases are rare and this condition only affects 2 to 3 in 10000 people. At present the medical community understand the condition to caused by more than 1000 different mutations of a single gene. Unfortunately, less than 12% of the mutations have been observed in more than one family so genetic research, diagnosis and infant screening are made more complicated. At the same time 30% of all cases occur spontaneously in children whose parents do not carry the gene.


The results of these genetic mutations to those with the condition are numerous problems with the body structure that can vary from mild to severe. People with Marfan Syndrome are typically tall with very long arms and frequently have a hunched back. Their fingers and wrists are also often very long and thin. Based on research from Pare Hospital in France, people with the condition also have a lower density of minerals in their bone.


Among the more than 30 known problems associated with the condition are scoliosis or a curved spine, weak muscle tone, dislocated eye lenses and joint problems. Internally, the condition can cause collapse of a lung, leaky heart valves, as well as aneurysms and ruptures of the aortic artery that carries blood out of the heart to the body. These heart problems are the most dangerous part of the condition and have led to numerous cases of basketball players collapsing and dying on the court.


Though the reasons are not yet understood, individuals with the condition also suffer from higher rates of migraines. Based on research lead by Amsterdam Academic Medical Center in 2009, those with Marfan Syndrome had a more than 40% higher risk of Migraines than the general population. Some of the migraines were also of the form often associated with brain aneurysms and stroke.


With all the possible health risks associated with the condition, the 2008 discovery that the existing high blood pressure drug losartan is able to prevent expansion of the aortic artery is very good news. From 1972 to 1993, surgery and medical therapy increased the average life expectancy of people with Marfan Syndrome from 48 to 72 years and it is still climbing.


Now, with the research performed at John Hopkin's Children's Center, the study results indicate that the rate of enlargement of the aortic artery can be slowed by an average of 7 times or even halted. These findings will help to ensure that those with the Marfan Syndrome are not denied the chance to live a fully life.


Do you or a loved one have Marfan Syndrome? Do you wish to find others who also have the condition? Consider joining the site and sharing your opinions in the forums.


Related Links


http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html
http://rheumatology.oxfordjournals.org/cgi/content/full/40/3/358
http://www.nlm.nih.gov/medlineplus/ency/article/000418.htm
http://www.internationaljournalofcardiology.com/article/S0167-5273(08)00750-X/abstract
http://marfan.stanford.edu/FAQ.html#How
http://pediatrics.aappublications.org/cgi/content/full/123/1/391#SEC4
http://www.hopkinsmedicine.org/hmn/F07/feature1.cfm
http://www.ncbi.nlm.nih.gov/pubmed/7810492
http://www.jtcvsonline.org/article/S0022-5223(07)01546-2/abstract
http://www.hopkinschildrens.org/drug-treatment-marfan-syndrome.aspx

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