Marfan’s syndrome is…. well when I think about it, I can either explain it very thoroughly with an excellent medical explanation or I can say it in simple terms. How about I do both? This reminds me of when I was in the medical field, and I would come in after the doctor, and had to explain to the patient what the doctor actually said. Have you ever had an experience like that?

Alright here is the medical explanation of what Marfan’s syndrome is. It is usually a genetic mutation of the FBN1 gene which encodes a protein called fibrillin-1. It is usually inherited in an autosomal dominant pattern, which just means on copy of the altered gene from either parent can cause the condition. However, this condition can occur spontaneously with no family history. There are about 25% cases that occur like this. Marfan syndrome was named after Dr. Antoine Marfan who first described the condition in 1896. This condition is a connective tissue disease, so the fibers that support and anchor our organs, and other structure will eventually loose its elasticity. Since connective tissue is found through out the body, it can affect many organ systems such as: Skeletal system, Cardiovascular, eyes, Lungs, and Skin. I won’t go into detail about what could possibly happen in each organ system maybe in another post. Since Marfan’s is more of a Syndrome, it effects everyone differently.

There is currently no cure for Marfan’s Syndrome. It’s one those things that can sneak up on you if you don’t keep watch on it. I use myself for an example. I didn’t know I had Marfan’s, until I was 33. I did know about it from my dad, but because I didn’t fit the criteria I was brushed off and was told I didn’t have it. In another post I will go over how to ask you doctor about having Marfan’s. Usually it’s detected in a genetic test. Sometimes it can be detected through imaging such as MRI, CT, Echocardiogram, eye exams, etc. Usually if it’s found early on, you are able to manage things with medication. If it’s caught later on, then expect to have surgery.

So how did you like that long explanation about what Marfan’s syndrome is? Hopefully it was very helpful, and information. Now for the simple short version. YAY! Marfan syndrome is a connective tissue disorder that effects the eyes, heart, lungs, skin, etc. It is usually passed on genetically, but sometimes can happen spontaneously. It is controlled with medications and procedures as long as it is caught early on, since there is no cure.

So there you have it, you should know a little bit more about Marfan’s Syndrome. Do you or anyone in your family have Marfan’s? How do you guys tell others about your condition? Here is the link where I found most of my information https://marfan.org/. Be Blessed and healthy!