Saturday, May 18, 2013

Connective Tissue Disorders, How Aortic Dissection Happens #Marfan Syndrome

What is a connective tissue disorder and how does it affect persons? Connective tissue is made up of structural proteins, themselves long chains of amino acids. Connective tissue holds everything together in your body. When connective tissue fails body systems begin falling apart.

Think of a concrete block building that over time looses all of its mortar holding the blocks together. What would happen? The structure would collapse. Similarly, think of a beautiful suit of clothes you are wearing. Now imagine all the sewing thread holding the cloth pieces together loosing it's strength and elasticity. Yikes! We'd be standing there in our birthday suit. Finally visualize an airplane flying high in the sky and unfortunately the metal rivets holding the plan's exterior metal panels begin to disintegrate. Think of what would happen if the rivet material was defective, allowing vibrations to break apart the tiny fasteners.

Now envision your body. You have special bioglue, biofasteners, biothreads so to speak throughout your body, holding your organs in place, supporting your bones, keeping your eyes in their sockets and your backbone straight. Otherwise we'd be a blob. But even then blobs need connective tissue to hold their blob together in some form or fashion (think jellyfish).

There are many protein based compounds that form connective tissues and there are many structural systems your body has in place to hold everything together.

Some of us have a issue with one of the very important connective bio-fastener substances in our body, the inadequacy and insufficiency of a special protein call fibrillin. Fibrillin is a very unique protein referred to as a glycoprotein and provides the glue and fastener effect for much of our body.

Some of the very important roles fibrillin plays includes holding together the cellular layers of our blood vessels, the layers of support for our spinal cord, holding up the arch in our feet, keeping our retina attached inside the eyes, facilitating the long term assembly of ligaments, bones and muscles and so much more. Fibrillin is like a bio-super glue matrix.

Sometimes, due to a gene mutation, fibrillin isn't produced in quantities or qualities our body needs for long term sustainability. Generally speaking there are seven different forms of fibrillin. Generally speaking again, the fibrillin associated with many symptoms characterized by the French pediatrician, Dr. Antoine Marfan in the late 1800's, is referred to as fibrillin-1. Diagnosis of Marfan Syndrome is usually completed by geneticists who examine the fibrillin-1 gene. This gene is typically called FBN-1. So when you hear FBN-1 (that pseudo-acronym sounds so unnecessarily complicated to me) then you now know the term refers to a bio-fastener gene. Simply said, FBN-1 problems means lack of bio-fastener/glue in the body.

I like to compare the fibrillin-1 deficiency to a stack of cards and my aorta. This is very easy to see and the example really helped me understand why my aorta tore apart, all the way from my heart to down through my chest and abdomen into my foot.

First imagine a stack of 52 cards and every three cards are held together with a couple thin rubber bands. Then stack all the cards banded in groups of three on top of each other and wrap the first six stacks of three cards with another couple thin rubber bands and repeat for two more stacks of six-three stacks. Then take all the stacks and place neatly on top of each other and wrap them all together with several thin rubber bands. You have a stack of cards bound tightly together but quite flexible at the same time!

This is what a normal aorta or blood vessel, or heart wall, of spinal cord support system or eye tissue layer is like generally speaking. Think of the rubber bands as the fibrillin in your body, holding everything together.

Now in my aorta only a few rubber bands exist and that is why my aorta is unraveling. Think of that same deck of 52 cards with only a few rubber bands holding the entire stack together. Now think of a stress, like a hard physical activity or high blood pressure (hypertension) in the body - or two people each one pulling on a separate end of the card deck. At some point the few rubber bands break and the entire deck of slick cards flies everywhere. Ooops!

Exactly what I though when my aorta tore (ooops! - yeah right...).

Connective tissue disorders (CTDs) like Marfan Syndrome (fibrillin issues), Ehlers-Danlos Syndrome (collagen issues) and several others present themselves in many ways. Most are very painful and the mortality risk can be extremely high. Some manifestations are a genetic mutation and others are autoimmune type responses, similar to diabetes. But they are all part of the same integrated and non-isolatable problem, that of our body literally falling apart.

Unfortunately, CTDs are just now beginning to find a place in the research community, and though there are several excellent specialized clinics such as the Cleveland Clinic, much more work needs to be done. A recent study showed that those clinics with documented experience in treating CTDs have so much more success, particularly when considering mortality frequencies. This is because CTD disorders are complicated and unique, requiring precise medical treatment and prompt recognition. For instance, mortality rates jump within hours of a Type A dissection, as I experienced. If a dissection is not diagnosed immediately, death may soon follow.

But there are also many lifestyle changes we all can make, that though are designed to help persons suffering from CTDs, can also produce longevity and a quality of life for all.

We will be discussing how diet, exercise and spirituality can help all of us beat CTDs and best of all, live a long and happy life regardless of the infirmity we are faced with. Pain is pain and some hurt so badly all the time. But if there is even one small action we can take to ease that pain, we have succeeded in improving our lot, if even just a bit.

The next few blog posts will focus on what we personally can do to intervene with the CTD issue, hopefully making our daily life activities a little or possibly a lot easier to cope with.

Now, at least I hope the mystery of what a connective tissue disorder, such as Marfan, is unraveled and the cards shown.

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