Marfan Syndrome Background

The history and background of marfan disease. Marfan syndrome (MFS) is an inherited connective tissue disorder noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability. This autosomal dominant syndrome has pleiotropic manifestations involving primarily the ocular, cardiovascular, and skeletal systems. Classic marfan syndrome MFS type 1, MFS1 has been considered a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1; however, studies of Marfan mouse models and Marfan-related conditions have expanded our current understanding to a pathogenic model that involves dysregulation of cytokine-transforming growth factor beta TGFβ signaling. [1, 2] . Patients who have clinical
findings of marfan syndrome , as well as genetic variants in the transforming growth factor and the transforming growth factor-beta receptor-2 gene are designated as having marfan's syndrome type 2 MFS2.Prevalence of marfan's disease.During the study period, the absolute number of patients diagnosed with MFS annually increased significantly with an incidence rate ratio of 1.03 95 % CI: 1.02–1.04. Since this increase could be due to lack of access to patient records early in the study period, we calculated the IRR for the last 10 years of the study period (2004–2014) resulting in an increasing IRR of 95 %. There was no difference in IRR between the two genders during the study period .Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes, 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 , and either a sunken chest or a protruding chest. Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung . A membrane known as the dura, which surrounds the brain and spinal cord, can be abnormally enlarged 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 . Clouding of the lens may occur in mid-adulthood, and increased pressure within the eye occurs more frequently in people with Marfan syndrome than in those without the condition.While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing.
In the past, people who had Marfan syndrome rarely lived past 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span. Some problems with marfan's disease is that you're not expected to live a long and happy life. And have heart disease and swelling inside the stomach which causes death. The swelling in the stomach can eventually rupture and can seriously injure your body. Often time people have severe pain in the chest, stomach, and back.When this happens you should immediately receive medical attention. Some interesting facts about marfan's syndrome. Most people don't know this but, abraham lincoln had marfan's. Marfan's syndrome was first described in 1896 by a french pediatrician. Also people with marfan syndrome that need to get teeth pulled is very dangerous because pulling a tooth from someone that has marfan's syndrome could kill them. People with Marfan syndrome shouldn't do lots of running, physical contacts, or getting hit in the chest. Also sports like baseball, basketball, football, track. People with this disease are stuck with for the rest of their
life.