Zamboni research: genetic difference in PPMS compared to RR

A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis.

Re: Zamboni research: genetic difference in PPMS compared to

Postby cheerleader » Fri Aug 17, 2012 8:16 am

I guess it depends on your insurance, where you are tested, what the results are, Daisy---
Here are the 3 blood tests that Jeff had, paid for by insurance and done in his GPs office when we asked for iron assessment. His levels were normal.
http://www.doctorslounge.com/hematology/labs/iron.htm
If levels are high, and tissue iron overload is questioned, the next test ordered might be a liver biopsy.
There are some non-invasive ways around that.
http://asheducationbook.hematologylibra ... 1/215.full
cheer
Husband dx RRMS 3/07
dx dual jugular vein stenosis (CCSVI) 4/09
http://ccsviinms.blogspot.com
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Re: Zamboni research: genetic difference in PPMS compared to

Postby MarkW » Mon Aug 20, 2012 8:44 am

Team Zamboni's Conclusions:
Polymorphisms in the genes coding for iron binding and transporting proteins, in the presence of local iron overload, might be responsible for suboptimal iron handling. This might account for the significant variability peculiar to MS phenotypes, particularly affecting MS risk and progression paving the way for personalized pharmacogenetic applications in the clinical practice.

For me this means that pwMS differ a lot between each other. If we want to influence genetic factors involving iron we will need a personalised pharma therapy approach. That will be complex.................
MarkW
Mark Walker - Oxfordshire, England. Registered Pharmacist (UK). 11 years of study around MS.
Mark's CCSVI Report 7-Mar-11:
http://www.telegraph.co.uk/health/8359854/MS-experts-in-Britain-have-to-open-their-minds.html
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Re: Zamboni research: genetic difference in PPMS compared to

Postby Bethr » Thu Aug 30, 2012 1:23 pm

Cool! Genmati has published more iron gene research.
Ferroportin the iron exporter (FPN......) , known as Ferroportin disease, Hemochromatosis type 4. Well it really does make sense, and ties in with some of my personal theories, which in Ferroportins case (and tying in some other MS clues) goes something like this:

Firstly, iron is hidden away from invading pathogens. So you get infected with XXXX and iron is
hidden in places in the body, brain, organs to make it unavailable to the invader (just about everything needs iron to survive, including pathogens, cancers etc). Your bodies natural response when invaded is to hide iron. If Ferroportin (the iron exporter) is not functioning properly, the iron cannot be removed. It builds up, toxic, oxidises etc.

with Ferroportin gene, unlike classic hemochromatosis genes, you only need one gene to be effected, ie: a heterozygote. But I don't think that phlebotomy is going to help if the bodys iron exporter is faulty, you would just probably end up anemic.

Following on from some comments above, the way to check for iron overload is not serum iron, it's ferritin and also very importantly transferrin saturation, both would usually be high. In Ferroportin disease the transferrin saturation would be LOW. So quite different tests/results expected than being mentioned by some on this thread. Iron metabolism is incredibly complex, it's the next frontier, as big as bacteria some say.

Still phlebing every 3 months and feeling great. My sister has had some done and feels better for it, but can't find a method/person she is happy with for doing the venesections. But we are both classic hemochromatosis genes C282Y (H63d is more associated with MS funnily enough and is more common than C282Y)

Cheers
Beth
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Re: Zamboni research: genetic difference in PPMS compared to

Postby Bethr » Sat Sep 15, 2012 1:26 pm

Interestingly (well it's been a bit rough actually :sad: ), I had a bit of an "event" whilst staying in a hotel at altitude last week, and was rushed down to sea level because of it. Had blood tests done on arrival and my iron levels have doubled again, platelets over range too. I've been referred to a hemotologist. My ferritin is normal, but the other tests, transferrin saturation and serum iron are high/over range. The plot thickens! All my iron tests have been stable and normal since starting the 3 monthly phlebing routine in 2010. I had my last phleb in July. I'm intrigued by the link, ie: altitude/iron levels, thick blood, blood flow.

Another surprising and interesting development is I'm having an operation to remove a large cyst in my neck (midline around the adams apple area) in 48 hours, apparently its congenital. It will also be interesting to see how that affects blood flow to my head, who knows how this thing has been pushing on my neck veins for decades, it is somewhere between a golf ball and cricket ball size! 8O Never a dull moment :lol:
Cheers......
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Re: Zamboni research: genetic difference in PPMS compared to

Postby cheerleader » Sat Sep 15, 2012 5:55 pm

Hi Bethr--

It was Jeff's hypercoagulation and first MS flare after a trip to high altitude that started our adventure into the vascular connection. High altitude does affect coagulation, increasing hypercoagulation via fibrinolysis inhibitors, platelets and hemoglobin via hypoxia changes.
http://commons.pacificu.edu/cgi/viewcon ... ulation%22

http://www.zora.uzh.ch/25731/1/smw-12910.pdf

Not only did the plot thicken...but so did your blood.
That congenital cyst is curious. Maybe ask your treating surgeon if it has been affecting your venous return. Good luck with that surgery and here's to more boring and healthy days ahead!!
cheer
Husband dx RRMS 3/07
dx dual jugular vein stenosis (CCSVI) 4/09
http://ccsviinms.blogspot.com
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Re: Zamboni research: genetic difference in PPMS compared to

Postby Bethr » Sat Sep 15, 2012 8:53 pm

Yes, a tangled web up there at altitude or in my neck maybe?
I have done some research and a hypoxic event and/or altitude sickness affects the peptide "Hepcidin" (the master controller), which in turn controls iron absorption and high serum iron and transferrin saturation would be initially raised by hypoxia, whereas ferritin would not. So I have the answer to why my serum iron and T.Sat% shot up. As for the altitude sickness, we are unsure as we were a bit below where it starts to affect most people, hadn't even gotten onto the ski-field sadly. But this large lump in my throat has been expanding at a fast rate the past few months and I have been noticing a shortness of breath when walking recently.

We will see after the surgery, I should be out of hospital by the end of the week and will know more of where this large cyst had migrated to over 50 years of it's existence in my neck :lol:
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Re: Zamboni research: genetic difference in PPMS compared to

Postby Bethr » Sat Oct 06, 2012 12:53 pm

Just a wee update here, I've had the congenital cyst removed from my neck. The surgery seemed to go well and I'm feeling very well.

The very interesting thing was the fluctuation of my iron levels over that short period. Per chance I had three iron panels done over a period of 12 days. The first was a standard pre-op test which was low/normal. The second iron test 4 days later, 48 hrs after my scarey event at altitude, in which my iron had doubled and was above range in both serum and transferrin saturation levels. The third test was done a week later and this time my iron levels had shot down to below normal range and my transferrin saturation was the lowest it's ever been. I find this fascinating, and it would be rare to get three iron tests done in under two weeks to show what is actually happening with our iron metabolism. My hemoglobin also increased to 155 ug/l which is a bit higher than normal for me lately.
My platelets are also elevated.

I have a feeling this congenital neck cyst may have been causing mild hxpoxia and going to altitude just finished me off. Hypoxia can raise iron levels (obviously very high for short periods of time), so a routine blood test is very unlikely to pick this up.

Anyway my Dr. now has these iron tests in front of him and is rubbing his head.
All my tests were done fasting.

I eagerly await a repeat of my iron panels and CBC in three months to see if the clearing of my airway spaces/neck veins with the removal of this large cyst changes my test results. My Dr. has advised not to donate blood until after these tests are done in December.

So we will see!

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