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Marfaned

Member
Joined
Apr 1, 2010
Messages
24
Location
New Jersey, USA.
Just to introduce myself. I am one of those who has been consigned to the "other side" i.e. the patient side after years of somehow hanging on the opposite side for 20 years, conducting research and clinical trials on newly developed drugs, writing long incomprehensible reports to the FDA, etc... My area was mostly in autoimmune diseases and some inflammatory processes in cancer and their treatment. Now I get to wonder when some additional blood vessel/valve of mine is too large and requiring more repair. I somehow managed to fight through this Marfan body until recently, when it seems like things slowly but surely, went down hill. It may take a while, so in the meantime I trying to have fun writing what I think is sense, on this site. So Hi and thanks to all of you for providing a listening ear!

:)
 
Welcome aboard. Hope to learn a lot from you. Marfans is one thing that's eluded me. I display none of the actual characteristics, yet my body is acting like it has the syndrome.
 
Thanks Ross

Thanks Ross

Ross:
You seem to be very well read about these disorders; a side benefit from having gone through an aortic bust up eh! This Marfan/Ehler-Danlos/CTDs spectrum is still being researched. My suspicion is that there is an inflammatory process underway. The degeneration of the media in the great vessels which affect us is a complex one. The elastin-fibrillin-collagen matrix that gives vessels (and other structures) its elasticity and strength has to be exactly right. The genes coding for the protein may also regulate inflammatory mediators which degrade our blood vessels even faster on top of the physical stress on a weak "pipe" as it were. I wish I could go back and start a new project but for now I am just trying to link up with some researchers as physically it is getting tough with the fatigue. I have shared my DNA data with the national consortium doing this work. I dont know if anybody else has done this on this forum. (I have not read all the posts, so pardon my ignorance)

Thanks for your reply
 
Hi, it is nice to meet another person from Nj, even if I wish it were under different circumstances. We live in south NJ, Camden county, basically a Phila subburb. It's interesting you did your research in auto immune/ imflamation. That is the recent medical issue I am trying to teach myself.
Welcome,
ps what you haven't read the thousands of post already? must be a slcker lol
 
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Welcome to the forum, and it is awesome to have someone with your scientific background among us. If you've not already heard/read of this, you might find it very, very interesting to read up on a similar condition in equines, DLSD/ESPA which also is a systemic connective tissue disorder. Sadly, I know more about that than I wish I did, having had a horse that had the condition. The way human and veterinary medicine sometimes overlap is fascinating to me. (We all are mammals, after all!)

There is an ongoing field trial of a nutritional intervention that apparently is more successful the earlier it is started. Whether anyone is also trying that for humans with Marfan syndrome at this time is unknown, but if I had that disorder, based on the efficacy of it in the horses being followed over time on it, I would be very interested in trying it too. The Veterinarian who is conducting that, and who also does a lot of searching of human medical literature for any useful extrapolation, in addition to veterinary, is Dr. Eleanor Kellon, website www.drkellon.com in case you want to get some research abstract references from her. There is a good website with some info, http://www.angelfire.com/bc/curlygait/DSLD.html that may be of interest. The files of the yahoogroup which requires membership to access (http://tech.groups.yahoo.com/group/DSLD-equine/files/) contains links to some research, such as Dr. Cothran's finding of some genetic markers. Dr. Cothran's info can be found on http://www.cvm.tamu.edu/vibs/FacultyDetail.aspx?ID=GCothran - since you mentioned wanting to 'link up with some researchers ' either he or Dr. Kellon are likely to know who might be currently working on this. The nutritional protocol being field-trialed in horses is AAKG and herb Jioagulan (Gynostemma Pentaphyllum), and the use of one or the other or both together is very much tied into whether there is active inflammation or not. The J-herb is being studied in human medicine too, if I recall correctly because it stimulates e-NOS.

Edited to add, I am sure marfaned knows this, but some of the other folks might not? The significance of the acronym e-NOS means endothelial Nitric Oxide production is enhanced. This is useful to know because if I recall correctly, that is what can improve vasodilation, and thereby circulation...very interesting topic for us cardiac problems afflicted types!
 
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Marfaned said:
Ross:
You seem to be very well read about these disorders; a side benefit from having gone through an aortic bust up eh! This Marfan/Ehler-Danlos/CTDs spectrum is still being researched. My suspicion is that there is an inflammatory process underway. The degeneration of the media in the great vessels which affect us is a complex one. The elastin-fibrillin-collagen matrix that gives vessels (and other structures) its elasticity and strength has to be exactly right. The genes coding for the protein may also regulate inflammatory mediators which degrade our blood vessels even faster on top of the physical stress on a weak "pipe" as it were. I wish I could go back and start a new project but for now I am just trying to link up with some researchers as physically it is getting tough with the fatigue. I have shared my DNA data with the national consortium doing this work. I dont know if anybody else has done this on this forum. (I have not read all the posts, so pardon my ignorance)

Thanks for your reply
Click to expand...

When all this started for me back in 91, it began as a lung problem, that they thought for so long was the result of RA or some sort of systematic vasculitis. They diagnosed it as Pulmonary Hemosiderosis, but said they would be watching me for Wegeners or Goodpastures. Fast forward to 95 and my aortic aneurysm that they had just found after yet another round of pneumonia (total of 9 bouts in a short amount of time) blew. Now, here I sit with a 3.6 aneurysm in my abdomin. It's all weird because it all started suddenly and within 5 years time, disabled me.
 
Thanks for the additional info

Thanks for the additional info

I have been on Losartan 25 mg for some time now and only time will tell if it has a benefit for stopping the expansion of my distal aorta. Mine is somewhere in the left brachiocephalic trunk and thus requires a major re-intervention of the entire aorta. Having one functioning kidney, surgeons want to wait it a little longer as it is "only 3.8 cm" now. The bigger problem is if my heart itself will hold out long enough.

The horse study is something I had heard of and sounds interesting because this entire beta blocker usage today was based on a turkey study. A subset of these birds were blowing their aortas when young and causing losses for farmers. Adding a beta blocker to their feed improved things significantly. As we are closer to horses than birds there could be hope for pharmacological intervention early in life and postpone the first aorta and/or valve repair until age 60 or more. This would make a huge difference. In fact, matrix metalloproteinases are being studied as well. The faulty gene coding could also cause micro-nutrient imbalances etc. This is a huge are of study and my hope is that the next generation does not have to go through what we have.

Ross: (and others) Have any of you suffered bone loss + arthritis, had higher ANA and or CRP? ANA= antinuclear antibodies, & CRP = C reactive proteins. These are inflammatory markers (and of course close to my heart; no pun intended). Also my cholesterol/ triglycerides are low and look good in isolation from blockages point of view with clean coronary arteries on angiogram. This low lipid profile seems to be part of the Marfan syndrome. Phew, something positive! This is another part of the jigsaw puzzle as low LDL may have consequences. I have not studied the global data on this aspect across patients suffering from a variety of CTDs though.

Marfaned from central NJ
 
Well my CRP and ANA seem a bit high, but not too far out of normal range. Lipid profile is through the roof high. I guess I don't fit in there. That's what makes my problem nearly impossible to figure out. It's a 1/2 of this and 1/2 of another that sort of cancels each other out. The other funny thing, I run a normal abnormally high white blood count. It's like my body is fighting itself all the time.

Oh yeah, I was on Losartan and it didn't do a thing to stop the progression of my aneurysm, but then again, it never made it to 5.0 before it blew either.
 
Marfaned said:
Ross: (and others) Have any of you suffered bone loss + arthritis, had higher ANA and or CRP? ANA= antinuclear antibodies, & CRP = C reactive proteins. These are inflammatory markers (and of course close to my heart; no pun intended). Also my cholesterol/ triglycerides are low and look good in isolation from blockages point of view with clean coronary arteries on angiogram. This low lipid profile seems to be part of the Marfan syndrome. Phew, something positive! This is another part of the jigsaw puzzle as low LDL may have consequences. I have not studied the global data on this aspect across patients suffering from a variety of CTDs though.

Marfaned from central NJ
Click to expand...

Justin is still very young (22 next week) and doesn't have bone loss arthritis ect,but time will tell, but was dxd with psoriasis last week. for what it is worth I'm disabled with back problems and part of that is degenerative disks disease ANd his Dad and dads Mom both had psoriasis, altho they were much older when they first had it.

His original heart surgeries (at 10 days and 18 months) were to repair structural problems, (transpostion of great vessels, several vsds, pulm stenosis/atresia and a couple minor chds) but other surgeriees (on his right side/pulmonary of his heart were because of calcification ect, he also builds massive amounts of internal scarring that fused his heart to his sternum the last 2 OHS.
I'm trying to learn as much about psoriasis and what else it can effect ect these days

Ps just wanted to add a few years ago our extended family -both sides, aunts uncles, cousins, living grandparents gave blood or (swab in young chikdren) to the genetic research lab looking for a gene/chromosome for CHDs. normally they just do the kid, hs parents, siblings. But I said I think they will find answers in Justin and his familiy since both my side and my husbands have generations of children who were born with complex CHDs and needed surgery as a child or died before surgery was avaiable, (and my husbad had a 12 year old brother he never met who died following heart surgery when it was all very new in the early 50s. Billy died the day after surgery and Don was born in 57 a few years later) if they had complex CHDs or had smallers CHDs, like asds, vsds dxd as an adult. So the research lab sent letters, from my family, to all of the family members on both side asking to help. They didn't find anything new yet, but they also said Justin did not have any if the already known chromosome issues related to CHDs
 
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Hello Marfaned... I'm one of those people too. But I just found out my cholesterol/ triglycerides are quite high though. :( I'm a rather tall, slender lady, who doesn't eat much meat... so my dr. says I probably inherited this problem. :(
 
Dimensions

Dimensions

IRAD data (international Registry of Aortic Dissections) show that many blow out just under 5 cm! For Ehler-Danlos type 4, 3 cm seems enough. If you have not already seen this data, it is worth a look.
 
That is cool you knew about the horse connection, marfaned! I just remembered a very interesting correlation that has been observed by a few Veterinarians. That is that the horses that develop either insulin resistance and/or ESPA often are found to be iron overloaded. Testing for that is not routinely done by Veterinarians, and if I recall correctly, only Kansas State is able to do the complete iron panel that is needful, as opposed to merely serum Fe. Supposedly, if I recall the hypothesis correctly, the iron overload facilitates or causes inflammation. The inflammation of course causes all sorts of nasty things, as is already known in human medicine. In severely iron overloaded horses, they have blood removed periodically (that makes me wonder if the old timey Docs who practiced 'bloodletting' on humans were onto something), but lesser degrees of iron overload are normally dealt with by reducing iron intake plus bumping up dietary intake of copper. Dr. Kellon is generally regarded as the 'go to' person on equine nutrition and nutraceuticals for equines, and she posits that the ratio of minerals one to another is more important than just total intake.

I would be very interested to know if that concept has been studied in people! Do you know, marfaned, if there has been any research into that? It appears that most human vitamin formulations just focus on RDA (which of course is a questionably low figure on some nutrients) without much apparent attention paid to the ratios. (Or, at least if such attention has been taken in formulation, I have not read anything about it?)
 
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Rain:
Meat may not be the issue for you. The trigyceride management involves low refined carbs and modest amounts of complex carbs. Do you take any triglyceride lowering drugs or is it just diet?
High triglycerides over the long run can lead to pancreatitis (inflammation of the pancreas) over time. Im talking about 250 or 300 over some years.
 
Jeanie said:
That is cool you knew about the horse connection, marfaned! I just remembered a very interesting correlation that has been observed by a few Veterinarians. That is that the horses that develop either insulin resistance and/or ESPA often are found to be iron overloaded. Testing for that is not routinely done by Veterinarians, and if I recall correctly, only Kansas State is able to do the complete iron panel that is needful, as opposed to merely serum Fe. Supposedly, if I recall the hypothesis correctly, the iron overload facilitates or causes inflammation. The inflammation of course causes all sorts of nasty things, as is already known in human medicine. In severely iron overloaded horses, they have blood removed periodically (that makes me wonder if the old timey Docs who practiced 'bloodletting' on humans were onto something), but lesser degrees of iron overload are normally dealth with by reducing iron intake plus bumping up dietary intake of copper. Dr. Kellon is generally regarded as the 'go to' person on equine nutrition and nutraceuticals for equines, and she posits that the ratio of minerals one to another is more important than just total intake. I would be very interested if that concept has been studied in people!
Click to expand...

In humans there is a condition called "hemochromatosis" where the body has a faulty gene and iron management gets out of balance. Iron is needed and is toxic and Transferin saturation is key. Transferin is a key management agent in the body and saturation of this is a diagnostic criteria for hemochromatosis. High iron destroys the liver and usually patients come in too late. The treatment? You guessed it...blood letting, except that in this case, it is done in a systematic manner by a clinician on a periodic basis. Luckily this can be diagnosed early and "treated" life long. Women in child bearing years need less blood removal for obvious reasons. Physicians look for this early in life by doing a iron measurement during standard blood screens.
 
Marfaned said:
In humans there is a condition called "hemochromatosis" where the body has a faulty gene and iron management gets out of balance. Iron is needed and is toxic and Transferin saturation is key. Transferin is a key management agent in the body and saturation of this is a diagnostic criteria for hemochromatosis. High iron destroys the liver and usually patients come in too late. The treatment? You guessed it...blood letting, except that in this case, it is done in a systematic manner by a clinician on a periodic basis. Luckily this can be diagnosed early and "treated" life long. Women in child bearing years need less blood removal for obvious reasons. Physicians look for this early in life by doing a iron measurement during standard blood screens.
Click to expand...
I used to work in blood bank and about 20 years ago we had a man who came in every month or so and had to have a unit of blood taken off. When he needed blood drawn, it was interesting, you could kind of smell a metalic smell from both him and the blood. I don't know if the smell changed after he had a unit taken because I personally only saw him when his iron was high. I don't know how he is doing because I left that hospital quite a while ago
 
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Hemosiderosis and Hemochromatosis are very similiar. I was found to have iron laden macrophages within my alveolar air sacs.
 
Hi Marfaned:

Welcome aboard! I, too, worked in clicnical affairs in the drug industry for a JnJ subsidiary, although that was only one of many jobs I had in the indsutry. I spent decades in hospitals, but I never spent a minute in one as a patient until I had my AVR last October. It was a rather surreal experience but it worked out fine. Although I'm not Marfan, my CT surgeon was quite experienced and well known in that area.

Best of luck to you on your journey.

Bill
 
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