Is it MS or Porphyria? This is a must read for all with MS

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Is it MS or Porphyria? This is a must read for all with MS

Postby Bethr » Sun Jan 31, 2010 1:32 pm

There are other diseases that mimic MS. I've just found out what I really have, and my sister too (combined 22 years being told we had MS).
It's called porphyria, here's a link to explain it.
http://www.nectarine.com.au/othersites/ ... a/what.htm

It can cause MS like symptoms, and even lesions in the brain and other neurological maladies, anxiety, depression, you can lose control of part of your body, vision problems, spasticity. It is exascerbated by stress and contraceptive pills and a number of foods (beef & dairy in our case), alcohol and also if you contract hep.c., and many commercial drugs. There are also a lot of drugs that we will not be able to take, including common anasthetics for operations and even the ones you have at the dentist. These are all dangerous triggers for our family. It comes in attacks, very much like MS. In women your symptoms may abate during menstruation, or if you have the mild iron overload caused by the hemochromatosis gene even a blood test will make you feel better for a short time, with less fatigue and overall feeling better. This was the key to my finding we had this largely unknown genetic disease.
Some types have attacks of stomach pain, it mimicks food poisoning. Some get the rash, blisters that are very itchy, and erupt especially after being in the sun. This may have been explained as eczema by your doctor or specialist.

It was believed to be rare, but they are coming round to thinking it may affect as many as 1 in 500. Combine it with one hemochromatosis gene (which my family all have, it causes mild iron overload), and you get a fatigue and sleepiness on top. Iron is a trigger for attacks and it becomes a progressing debilitive disease. One in 7 Europeans have this hemochromatosis gene. Like MS both these genes are common in Europeans. There are around eight different types of porphyria, mainly genetic but it can be acquired.

Talk about mimic MS. My sister and I have been to hell and back before I took the time to research it all. I could not rely on my doctors to sort this out. They have probably never had a patient with it before.

You do not have to have the hemochromatosis gene to have the neurological symptoms, the iron overload just causes the fatigue and aching joints, which adds to the MS symptoms.

It can be cheaply tested for, so to anyone else out there who isn't going to accept the common diagnosis of MS. Get it checked out. It's easy to get rid of symptons and I believe the brain lesions reverse once treated.
It is more easily tested for during an attack.

I have a mission now in life, to help as many people as I can with checking for this problem. It is not MS and it may be more common than they think.

This link is to a subtype found in a White/South African bloodline. Iron is involved but it seems anemia rather than iron overload is prevalent.

http://users.stargate.net/~rnr/research.html

Hope this helped and good luck on your search.

Cheers
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Postby LR1234 » Sun Jan 31, 2010 2:23 pm

Hey Beth,
Thank-you for all the info.
What are all the tests needed to check for these conditions that you have?

L
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Postby tara97 » Sun Jan 31, 2010 4:27 pm

Porphyria is the genetics that causes the vulnerabilities that cause ms. From what i can see ms is a very complicated illness that is almost a machine of chain reactions that result in scaring in the brain. Whether the autoimmune response is immunoglobulin or not the result is still the same multiple lesions thus they are the same. Porphyria cutania tarda is the genetics behind hematochromotosis. Amyloidosis is porphyria varigate. MS is a what and a where but it isnt a why and how in that we do not know what ultimately causes this. Porphyria is a how and a why but not a what and a where. We know that genetics mutate and porphyria is a gene. We know that environment triggers it. But we dont know the what and where because the porphyria genes manifest in infinite ways. Europe knows this but the us ignores this because they make money in health care lots of it
Last edited by tara97 on Sun Sep 05, 2010 6:13 pm, edited 1 time in total.
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Postby shye » Sun Jan 31, 2010 4:42 pm

tara and whomever else wants it,
here is info on getting genetic testing for porphyria, if your urine and bloods don't show it, which frequently happens-- very difficult to get results--
http://www.porphyriafoundation.com/test ... -porphyria

It is quite expensive--think I'll try the blood and urine once again and hope get results this time.
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Postby shye » Mon Apr 26, 2010 8:25 am

Hi Bethr
I have some info on this that I thnk would help you--have sent it in a PM
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Postby ndwannabe » Mon Apr 26, 2010 6:48 pm

It says
Active Porphyria is extremely painful and can be very debilitating.


Does it mean that if we do have it, it is "inactive"? I, even though definitely uncomfortable and semi-debilitated, never experienced "extreme pain".

Have you?

Also I could not find - is it curable? If not, then what's the difference what we label our incurable disease?
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Postby Bethr » Tue Apr 27, 2010 8:09 am

I've learnt quite a lot since my first post in this thread, so I'll try and update a bit.

Those with genetic porphyria usually do not express any symptoms or have any attacks and just remain carriers, but can pass it on to future generations (50% chance). The classic acute symptoms you read about on most medical texts are extreme pain in the abdomen & vomiting.
This is treated in hospital with IV Glucose and in serious attacks panhematin.

Now that I've spent some time on Porphyria forums, I appreciate that a lot of people present in their own individual ways. Attacks are usually set off by some sort of drug, hormones (in my earlier attacks contraceptives), iron overload, food or chemical triggers like sulphites or alcohol.
The sun can also trigger attacks and in some types causes a rash. It just makes me feel heavy and lethargic.

My last two attacks were set off by a combination of high iron levels and dental local anesthetics. I fell into a deep fatigue, developed a brain lesion, developed epilepsy (this was minor from my point of view but showed up on an EEG). Later in the attack I started to have nerve pain in my lower back and arms. I also suffer from joint pain in my knees and hips and quite a bit of brain fog. I also get chest pain and heart arthymias. Optical neuritis can also happen. My sister gets that, I never have. Diarreha or constipation is also a regular sign. We both tend to get the diarreha. Symptoms in women often follow their menstrual cycle, as your own hormones are released at different times of the month.

So no, I wouldn't say I have acute pain. That only happened once on my first attack in 1994, when I woke up in the middle of the night with stabbing pains around the lower abdomen, and was taken straight to hospital. The pain was unbelievable but didn't last more than a few hours luckily.

It's not curable as it is genetic, but usually manageable if you avoid the triggers, watch your diet and avoid trigger foods, many chemicals, and cover up in the sun. There is an online list called NAPAS that lists all the drugs that should not be taken which is helpful. I tend to not take any if I can manage it, even some types of antibiotics are not suitable in Porphyria, many food and drug additives are also triggers.
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Porphyria's severe stomach ache

Postby Carobiner » Thu Jul 01, 2010 10:34 am

Greetings from a newbie on this site! Following the thread here, we've spent the past six years learning how to tame this porphyria dragon.

When an attack is coming what works for us to use this gentle and quick remedy: one or two GLYCINE, one or two EmergenC (for the electrolytes potassium, magnesium, sugar) along with a Gentle Iron (the iron binds metals). Don't be afraid of the sugar or the iron - they're necessary.

For a condition that's showing up like porphyria, it's essential to focus on detoxification; it's not principally a food thing. The food sensitivities are a sign, for sure, but eyes on the prize lead to heavy metals and chemicals circling in the system that need your help to clear the system. All the usual first line approaches that should've helped, like antioxidents Vitamin C and E. Restoring the liver is key.

Better to treat for the possibility of it, the porphyria's are so tricky to test.

Thanks for all the information you folks are sharing. It's a big help!

To healing,
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Postby Bethr » Thu Sep 02, 2010 2:21 pm

Hi Carobiner.
Thanks for the post. I'm so sorry I missed it at the time and only picked up on it whilst doing another search today!

Thanks so much for the info. I don't avoid sugar, but would shy at the iron as I was overloaded with it for the past three years. I still eat meat so hopefully getting my share through that path.

I totally agree about the detoxification. I'm doing so much better now that I am trying to avoid Porph triggers. For me i believe it was set off by a combination cleaning chemicals (I started a new housecleaning business), mild iron overload, dental anaesthetics (rare for me to have these), and my smoking habit. I've corrected most of these things, bar the smoking which is next on the list. Hopefully that will be the final turning point.

All the best
Beth
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porphyri...aah

Postby deezll » Tue Sep 28, 2010 9:32 am

I've been wondering about porphyria since August after a gp attached to CCSVI screening suggested an increased sensitivity to... what you get in car exhaust and cigarettes (having ludicrous mental blanks at mo, apologies).

I'd been finding out how my sudden 'allergy' to sun a few years back could be a symptom of porphyria.

Combine these two issues with my body not making best use of available iron - i seem to be able to be anaemic and iron overloaded.

more researching to be done it seems... does it ever stop?!

I took iron supplements after a gp prescribed them for anaemia about 7yrs ago and then did again for some months last year (before assorted vascular research suggested otherwise).

Bethr: I had to give up smoking thru necessity (apart from on the sofa late at night) cos they make me fall over.

all the best for your housecleaning enterprise.
i'd be interested to hear what you've noticed act as triggers for you?
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Postby tara97 » Fri Oct 01, 2010 9:04 pm

hemachromatosis is supposed to cause porphyria cutanea tarda, the most common of the 8 porphyrias and the only one that is aquired.
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Postby Bethr » Sun Oct 24, 2010 11:34 am

tara97 wrote:hemachromatosis is supposed to cause porphyria cutanea tarda, the most common of the 8 porphyrias and the only one that is aquired.

My mother had hemochromatosis, and myself and siblings have one gene each for it. We all have highish iron levels, well over the normal range anyway. My sister has a diagnosis of MS. I've got my iron right down now with blood donations.

Once again I've missed the posts here, so sorry for the delay in replying.
Deezl, I had to give the cleaning business away january 2010, I got really sick with it. I don't go near many chemicals now. I own a couple of vacation rentals and my husband has taken over the cleaning in those.

Porphyria is all about avoidance of triggers.
I think I'm going through a bit of a relapse at the moment. I got the Flu six weeks ago, the day after a phlebotomy (which usually makes me feel like a million bucks), and ended up on antibiotics for a secondary bronchial infection. My joints started playing up again, very stiff and sore and now I've got the old rash back on my legs and hands. I'm also getting the fatigue and sleeping afternoons a lot. I'd also been a bit bad on my diet and over past month, eaten Bacon and commercial sausages (sulphites preservatives etc). So best get back on the straight and narrow!

I'm not nearly as bad as I have been in the past, but same old signs.
I put that down to my iron levels being low now.
It may be an opportunity to get more Porphyria testing done. I have a script in the cupboard for full tests, in case the symptoms came back.
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Postby Bethr » Sun Oct 24, 2010 11:46 am

Just an afterthought, but yes, we are coming into summer now in the southern hemisphere and it could be more exposure to sun combined with the other things. I get the melanosis on my lower arms (hyperpigmentation), and that seems to be flaring a bit too.
It was fading nicely over winter when I was feeling better.

I should probably check what antibiotic I was given and see if it is porphyrogenic. I never even thought to check at the time.
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Re: Is it MS or Porphyria? This is a must read for all with

Postby MrsMomTo6 » Tue May 21, 2013 10:29 pm

My first intro into this group was on the night before my every 3 month visit to my MS Neuro the day after turning in my 24 hour urine to my endocrinologist to rule out acute intermittent porphyria....it occurred to me, that my 'Porphyria' symptoms and my MS symptoms coincided, walked together, and I even often got them tangled up.

Specialist who only want to hear about 'their body parts' that 'they' manage, kept my care segregated to the point that I stopped talking about some of my body issues with some of my specialist because they always made 'me' feel bad for talking about another specilities in their office...

Though I had been Dx. with MS in August 2011, after nearly 3 years of indecisive neurologist who did not agree on anything they saw in my MRI, or in my labs, or about my multi-system struggles, I learned to 'only' talk about 'neuro' symptoms in their presence...but, that did not change the reality that I had symptoms that were happening in every body system, and no one was talking to each other...Each time I would have one of these horrific GI attacks, I thought it was the end of me, I felt like I was dying, perfuse sweating, terrible abdominal pain, nausea, sometimes vomiting, and if so, it was terrible, dry mouth, watering mouth, confusion, listlessness, elevated BP, weakness in my arms, and eventually my entire body, confusion,and something very close to hallucinations, hours of potty visits, and then days of fatigue...I would call 'all' my specialties, no one even acted like it mattered that I had called. They would say...'It is not MS.' 'It is not GERD.' 'It is not your pituitary tumor...you must have anxiety!' -'did you eat something bad?'' It got no appointment. It got no referral? I started to do what my doctors were doing...forgetting just how bad these 'attacks' really were, in between attacks. I would have mild ones...and then I would move on to the care of 6 kids and a household that needed mom on her feet.

One of these attacks had put me in the hospital, my endo thinking it was an adrenal crisis, but, it was not, and still, there was no resolve. No one knew what to do with me. Then, last year, I had antoher severe attack, I was driving my kids from one event to another when it struck, so severe of GI pain I thought I would wreck. Hours in the bathroom...withering away, drenched in sweat, tremulous...with a weak voice I called from the bathroom to a child passing by...'get grammy...mommy needs help...' What my mom saw, terrified her. She insisted that I call, anyone to get help. I called my MS neuro and my endocrinologist. No reply for 6 weeks! really! There I was in my neuro office retelling the nightmare 6 weeks later...he said, "MS patients have irritable bowel, and bowel spasms, you need a GI muscle relaxer to help you, I'll write you a rx...' Later that same day, the endo. calls me back?!?!? He is aloof, and, distant, weary with my pleas for help. He assures me it is NOT my pituitary tumor, or my multi-nodulous thyroid goiter, or my calcium...and then I ask, 'IT HAS to be metabolic! what can cause such a severe metabolic crisis?!?!?' Then he said the word...'Porphyria" That was the spring of 2012.

I learned the hard way. Porphyria is rare. Docs are not sure how to test for it. and, testing during an attack is imperative. But, you have to have a 24 hour urine collection bucket ready to go, when a sudden attack hits! and, make sure it is NOT a weekend! or else it is wasted urine collection. I learned that labs can 'spill' specimens, and that it is tuff, if it is yours.

After several months of distraction from my docs finding another problem...Primary HyperPAPAthyroidism...(now that is a discussion topic worthy of this site as well...but, not here...not now.) I forgot I had even been told I 'might have Porphyria' until I asked for a copy of my doctor notes from my endo...there I learned he had written...'Porphyria...not likely?' I wondered how he had gotten to that. No test had been done. We had never discussed it. Yet, it was 'off this list'

Last week, when yet another severe one hit me, I collected my urine, and called the American Porphyria foundation and they told me what to tell my doctor to do to accurately test for this condition. But, for some reason...my endo wants to do it his way...first.

So, tonight in discouragement, I looked up...MS & Porphyria... and what do I find? but, someone making the connection as well...back in 2010 So, tomorrow I will go to my neuro, and ask him if 'he' will do the testing ASAP, while I am near the last attack, and will he do it the way the American Porphyria Foundation recommends? I fear I know his answer...'I'm an MS doc...you need to talk to your internist about referring you to a Porphyria specialist...' I now know the nearest 2 are more than 4 hours away from me.

Though I have taken Betaseron, and am awaiting BG12...I think it is best, to wait, and see this Porphyria thing through, first, and find out what is really going on with my body?

Perhaps this forum will stimulate some more conversation on this topic, and it's relevance to MS...soon, I hope.
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Re: Is it MS or Porphyria? This is a must read for all with

Postby Bethr » Sat Jun 01, 2013 1:33 am

Hi Momto6 :-D
I think porphyria is often misdiagnosed as MS, it's quite rare, and that's probably why your Dr noted "unlikely".
At least some day soon we may get easier access to genetic testing for the 8 odd different kinds and then we'll know for
sure. You may not have caught up with my finishing story on other threads, but it ended up I'd been loading iron because
of hypoxia from a slowly enlarging cyst in my neck. I don't have a spleen and that meant I couldn't utilise the extra iron
the hypoxia was causing my body to absorb. Once the cyst was taken out I felt normal again.
Very complicated these illnesses, all sorts of individual influences.

I still think it was porphyria complicating things in the early stages, brought on by the iron overload, that was when I had the abnormal EEG and brain lesion formed. That can happen in porphyria. In the later stages the hypoxia was to the fore.
More than likely it was porphyria cutanea tarda (familial version) as I get the blister rashes and hyperpigmentation on my forearms.
Porphyria seems to be one of those illnesses that only comes to play if your cup is too full. I plan on keeping my iron low and will donate blood
if it creeps up again due to me going through menopause.

Keep pushing to find out what is up with your body. I found Drs not much use, although there was an expert in porphyria who I talked to and I had
a script for the tests ready to go to him if anything happened again. It didn't, so it's still in the cupboard waiting just in case.
The only time I did test, I wasn't in any type of attack and had already been bled down, and then the silly lab nurse opened up my samples to the light
to check I had my name of them. Duh!!

All the best.....
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