Let's Talk Marfran Syndrome

NOTE: I am not a medical professional of any kind. And I advised anyone whom may think they have this disorder, or otherwise to please consult with a trusted medical professional. I strongly advise against self-diagnoising. Marfran syndrome is a fairly common condition that effects 1-5000 americans of all races and backgrounds. The very first occurrence of Marfran syndrome is called, spontaneous mutation. MFS Can be life threatening, depending on how severe the case is. And how early you've started the medication. What Is it? It's an inherited disease that effects the body's connective tissue. The connective tissue is what provides strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other parts. Marfan syndrome also effects the bones, eyes, skin, lungs, and the nervous system. What causes marfan syndrome to weaken the connective tissue is an abnormal chemical makeup. Marfran syndrome also effects skeleton, and the growth of the body. A change that occurs in the gene that controls how the body makes Fibrillin. Which is a essential component of the connective tissue. Contributing to strength and elasticity. Some of the physical traits that may occur with marfran syndrome are, a tall thin build, long arms, fingers, toes, and flexible joints, A chest that sinks in/out, and scoliosis, crowded teeth, and flat feet.The person may also have disproportionate arms and legs. Marfran syndrome is hard to diagnosis because it has the same and or similar signs as other connective tissue disorders. One of the very first steps into getting the proper diagnosis of marfran syndrome is to have your doctor look into your family history. While most cases are inherited by one parent. Marfran syndrome can occur with no family history of the disorder. Marfran syndrome is equally among both men and women, and have about a 50% shot of passing it on to their kids. MFS, is present at birth but, diagnosis may not happen until the the child reaches their teens or later years. While MFS has the same gene, not everyone experiences the same symptoms or at the same degree. The second step is for your doctor to do a physical exam and additional tests. To properly diagnosis MFS, your doctor will use a set of guidelines called, Ghent Criteria. If it turns out that you, have the disorder, your doctor will then recommend that your siblings, parents, and, children be tested for the disorder. The reason behind that is simply because outward traits of Marfran syndrome may vary a bit. Your doctor may also refer you to a geneticist, (a heredity disease expert.) And a cardiologist. They have the most experience with marfran syndrome.One of the biggest concerns when you have MFS, is damage to the aorta. The aorta carries blood from the heart to the rest of the body. Aortic dissection can be life threatening and lead to the person's death if not treated. Surgery maybe required to fix the issue. When exploring your family's history, the geneticist may ask a series of questions. Such as, whether you've had heart disease. cvc problems, problems with your spine. (Common complications with MFS. The Dr will also want to exam other family members for MFS. ) He/she may also ask if you had shortness of breath, palpitations, chest pains. (Common heart problems with MFS.) Whether anyone in your family has MFS. Or has died from heart problems, or has died suddenly. The dr. may also want the following tests done. Physical exam, Diagnostic tests, echocardiography magnetic resonance imaging, and computed tomography scans, Slit-Lamp Exam (which is done by an Ophthalmologist.And genetic testing will also be done. of course the Ghent Criteria will be used to properly diagnosis if the person(s) has the disorder or not. People with MFS can also have a Mitral valve prolapse - which is the billowing of the heart valve. Possibly associated with irregular or rapid heartbeats, and shortness of breath. Surgery is a possibility. Please consult with your Dr if you, or someone in your immediate family may be showing any traits of the disorder. And what the likely hood is of getting marfran syndrome. While there is known treatment, and can be life threatening depending on how severe the case is. There are ways to address MFS. Such as blood pressure medicine. Which can be controlled.It helps with the aortic entanglement. (Risk of blood vessel rupture.) if complications increase surgery may be needed. Your dr. may also suggest scoliosis treatment, eye, and breastbone surgery. There has also been a great improvement in the life expectancy of marfran syndrome. Living an average of 41 plus years. Where in the past, it was then 32 years. But with the introduction of drugs like the bater blocker that has changed greatly over time. I used the following sites to compile my information :National Heart, Lung, And Blood Institute :Web MD :SyndromesPedia.com Side note: If you're looking for more of a personal side to marfran syndrome, please check out The Might Dot Com for some amazing stories, and insight on this disorder, and many others.