Fibromuscular Dysplasia (of the brain) and MC

Post by **tex** » Mon Sep 05, 2011 1:10 pm

Well, it didn't initially dawn on me that FMD was a connective tissue disease, (a senior moment, no doubt). In light of Mimi's most recent post, the light bulb finally came on in my head.

In view of the information that she provided, I'll need to change my response to Sharaine's question about whether it might be associated with collagenous colitis, from "I have no idea", to, "it sure is".

CC is definitely a connective tissue disease, since collagen is connective tissue, and CC causes dysplasia of the collagen bands in the lamina propria of the intestines. Whatta ya know - another satellite issue of MC has been discovered, and you read it here, first.

That doesn't mean that LC is not also associated with FMD, because LC and CC can segue from one to the other, very easily. In fact, diagnosis is usually a judgment call based on the ratio of marker significance. Virtually all cases of CC have some degree of lymphocytic infiltration, and I suspect that virtually all cases of LC would show some degree of collagen band dysplasia, on close inspection. The pathologist selects the disease description that most closely matches the most prevalent markers present. In cases where both markers are equally prominent, the diagnosis is typically simply MC. Anyway, I believe that we can safely conclude that any version of MC can be associated with FMD, due to their connective tissue link.

Thanks, Mimi. Enjoy your visit with your son.

Tex

JLH · Post by **JLH** » Mon Sep 05, 2011 2:31 pm

Duh, I should have thought of Google Alert since I have one set for MC. One of our members, Ant, had suggested it.

JoAnn · Post by **JoAnn** » Mon Sep 05, 2011 3:44 pm

Dear Tex and others, I had to jump in here because of Mimi's mention of Ehlers Danos disease. I had never heard of this until a couple of years ago when my sister was diagnosed with this. (She's had years of strange symptoms.) She does not have MC like I do, but her daughter has a lot of digestive problems and they have checked her for UC. I've never got a straight answer of what they found, but have been told she too has been diagnosed with Ehlers Danos. They live out of state and so I don't hear a lot of day to day details of what they deal with. I also have a heart murmur with mitral valve prolapse symptoms which I noticed is also connected with Ehlers Danos. I'm sure I don't have Ehlers Danos, but I just can't help but wonder now about the possibility of a family gene connection that links the MC I have to my sisters Ehlers Danos. Any thoughts?
JoAnn

Post by **tex** » Mon Sep 05, 2011 7:30 pm

Hi JoAnn,

It appears that mutations in the COL3A1 gene are responsible for the form of Ehlers Danlos that affects collagen in the intestinal walls, and in blood vessels, (known as the vascular form).

The COL3A1 gene provides instructions for making a component of collagen. Collagens form a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. The COL3A1 gene produces the components of type III collagen, called pro-alpha1(III) chains. Three copies of this chain combine to make a molecule of type III procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell to remove extra protein segments from their ends. Once these molecules are processed, the collagen molecules arrange themselves into long, thin fibrils. Within these fibrils, the individual collagen molecules are cross-linked to one another. These cross-links result in the formation of very strong mature type III collagen fibrils, which are found in the spaces around cells.

http://ghr.nlm.nih.gov/gene/COL3A1

http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Wikipedia has this to say about this gene:

Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Many patients with EDS type 4 express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.

They apparently got that information from here:

http://www.ibis-birthdefects.org/start/ehledanl.htm

I can see many clinical indication listings that show mitral valve prolapse associated with the hypermobility form of EDS, (type 3, which is linked with defects in both the COL3A1 and the TNXB genes), but not with the vascular form, (type 4, which is linked with the COL3A1 gene).

Type 3 is the most common form of EDS, of course.

Love,
Tex

Zizzle · Post by **Zizzle** » Mon Sep 05, 2011 9:24 pm

This is all very interesting. My internist suggested last year that I might consider being evaluated for Ehler Danlos. I have a heart murmur with mild MVP, thin, translucent skin (so does my mom), and hyperextendable joints (much worse when I was young and more active). I remember almost dislocating my hip in gym class, and being the most flexible kid in school. It even affected my pregnancies when I had pelvic separation issues (and lots of pain!). But if I really have it, it seems like a very mild case at this point in my life, and I imagine there's nothing to be done about it. Luckily I suffer from no headaches of any kind, so if they were to begin, it surely would be a warning sign of something.

I have LC and autoantibodies that point to collagen-related autoimmune disease. My doc thinks I may someday land on Mixed or Undifferentiated Connective Tissue Disease. I'm hoping to prevent all this by working on my MC with diet. Unfortunately, I don't know much about these diseases. I guess I should read up!

Sharaine, please keep us posted on your discoveries. I'll be rooting for you. And I agree with the other posters, please get a second opinion.

JoAnn · Post by **JoAnn** » Mon Sep 05, 2011 10:24 pm

Dear Tex, once again you amaze me with your ability to find and explain complex information in a way I can grasp. (sort of

I've got to spend some more time tomorrow going over the information you sent and processing it better) Thanks for your unselfish service-you give so much!
Zizzle-what you describe about your childhood sounds just like my sister. She was always extremely flexible and had problems during pregnancies. She has 2 daughters who have now been diagnosed with ehlers-danlos and one has had all the difficulties you mention with her pregnancies. She's had 2 children and has been told she should not have any more because of the complications from EDS.
This is an interesting connection and opens up many new questions in my mind.
Thanks for the input and Tex, thanks for the research and explanations.
Love JoAnn

Zizzle · Post by **Zizzle** » Mon Sep 05, 2011 10:52 pm

I just looked up the symptoms again, and oh-boy, am I a candidate. Double-jointedness, velvety stretchy skin, easy bruising. But again, not enough to cause problems. Is there any point in knowing for sure if I don't plan another pregnancy? I suppose I should look for signs in my kids, but I think they're OK.

JoAnn · Post by **JoAnn** » Mon Sep 05, 2011 11:07 pm

Sharaine, I meant to tell you earlier thank you for sharing your experience and opening this subject up to us. And yes, I am the "praying type" and you are in my prayers. Please let us know how things progress.
Love JoAnn

JoAnn · Post by **JoAnn** » Mon Sep 05, 2011 11:17 pm

Zizzle, I'm beginning to think that it is possible that I have probably had a very mild form of EDS. I'm going to contact my sister and find out more. I know she's involved in a support group in Arizona and has gone to a conference in Maryland the past 2 years. Her EDS has caused her tremendous pain and I know she took an early retirement and got disability because of it. I know at one time she was diagnosed with pernicious anemia (not sure if that's part of EDS) and she had a dangerous blood clot in her leg. When I look at my family tree, there is a history of heart arrythmias on my mother's side, but there are also some suspicious deaths of young women (early 20's) on my dad's side. My sister at one time thought they may have had pernicious anemia because of the time period they died and the lack of medical knowledge/care-late 1800's I think or early 1900's.
This has really got my mind going and I should have been in bed an hour ago-I'll pay the price tomorrow!
JoAnn

Post by **tex** » Tue Sep 06, 2011 9:49 am

Zizzle,

As far as I'm aware, the only treatments are in response to symptoms that become severe, (such as bracing, wheelchairs, etc.). It's probably a good idea to avoid abusing any joints, and the right kind of exercise might help to strengthen muscles which might help to prevent joint issues. I believe I read somewhere that vitamin C is recommended to minimize bruising, and improve wound healing, for EDS patients.

If your kids show any of the symptoms, be sure to teach them that they shouldn't go around demonstrating how flexible their joints are, since that can hasten deterioration of the joints, and they probably should avoid contact sports. When I was in college, one of my classmates apparently had EDS, (he met the profile - thin, slight build, etc.), and he insisted in participating in a karate club. At just about every other workout, he would come away from it with a dislocated shoulder, hip, etc., and a world of hurt. We couldn't convince him that karate was not in his best interest.

Of course, back in those days, I'm not sure that anyone had ever even heard of the disease.

Tex

Zizzle · Post by **Zizzle** » Tue Sep 06, 2011 10:39 am

Yes, I recall taking vitamin C with bioflavanoids as a teen to try and help with the bruising. I looked as though my legs had been beaten. My finger acrobatics were always a good show - I guess that means I might get arthritis someday - hopefully not the rheumatoid kind. Luckily age and lack of exercise seem to have helped stiffen my joints, so my knees and elbows don't hyperextend as much and my hips are less prone to "popping" out.

Sharaine · Post by **Sharaine** » Tue Sep 06, 2011 9:07 pm

WOW! I just logged on to check the listserv and was very surprised to see all of this discussion. I'm touched and appreciate your thoughts and prayers and knowledge.

First, Mimi, thank you so much for finding me. I'm surprised and amazed. I will definitely be in touch and I will check out the FMD website.

The last few postings mentioned extreme flexibility. I've ALWAYS had very flexible joints. My knees go backwards and make a crescent moon when I "lock" them back. That is, to put my knees in a position where they will not move means going into that crescent shape. Also, my ankles are extra flexible and I often catch myself sitting with the outsides of my feet and ankles on the ground. I also bruise easily.

One other item I haven't shared previously is that I am a bacterial meningitis survivor. It was the worst form of meningitis one can have. I was 14 and almost died. Had a fever of 105 and was in a coma for 5 days. I was temporarily paralyzed, and lost all of my hearing in 24 hours. Twice my parents were told I would not survive. All of this was 37 years ago. When I say I'm "just deaf", I mean it. I could be six feet under, or in a vegetative state as some doctors anticipated. I got a cochlear implant in 1997 at the Mayo Clinic and now function hard of hearing with my processor on. I have a masters degree and have been very successful in my career.

I'm not sure if this FMD thing is connected to the meningitis, but I suspect it is. And Tex's comments on collagen confirmed my suspicions of a correlation between FMD and CC. I will ask questions on Thursday. Meanwhile, the headache is almost always present, but the intensity varies. It's medium tonight. I'm thankful the appointment is less than 48 hours away.

Yes, I was told that CC/MC is rare. I guess I'll have to change my thinking on this.

I'm exhausted and headed to bed. I will re-read all of your comments tomorrow. I'm going to also try to print them out so I can highlight comments and make a list of questions for the neurologist.

Good night and hugs. You all have no idea how much you mean to me.

Love, Sharaine

Zizzle · Post by **Zizzle** » Wed Sep 07, 2011 2:50 pm

Double WOW Sharaine!! You've really been through the wringer! Makes MC seem like a walk in the park! My knees used to go back as you mentioed when I was young, but age seems to have firmed things up, thank goodness. Let us know if your docs recommend a workup for EDS. I hope the headache subsides soon. Good luck.

Zizzle · Post by **Zizzle** » Thu Sep 08, 2011 9:20 am

BTW, I asked my 7 yr-old son (who takes after me in most genetic ways), if he could do the wrist and finger acrobatics that I can, and sure enough, he could touch his thumb to his forearm, bend only the top joint of his fingers (double-jointedness), and bend his fingers backwards 90 degrees. Should I be concerned or is this normal joint flexibility of childhood?

Post by **tex** » Thu Sep 08, 2011 10:46 am

I was never able to do that, or even come close. I'm pretty sure that's indicative of hypermobility.

Tex