Meirav
Active Member
A Public Service Announcement:
I tend to think that everyone here has already explored all possible causes of their diseased state.
Perhaps this one is rare as in not known, and escaped the radar.
Here it goes:
I learned that my B6 plasma levels are a bit high in absence of supplementation.
I asked around in hEDS forums, and there were quite a few who've had their levels checked and high too.
Hypophosphatasa (HPP) is a genetic condition with reduced activity of the enzyme alkaline phosphatase mainly known as a bones and teeth disorder. Fatigue and pain are common, specially after exercise or mild exertion - sound familiar? Chiari malformation, intracranial hypertension, hypotonia, osteoporosis… There are different types and degrees of severity. There is also the natural progression of the disorder in the adult forms, with what they call a honeymoon phase for the first decades of life – and then sh*t hits the fan.
As one doctor put it: you are swimming in pyridoxal 5′ phosphate – a B6 vitaminer, PLP or P5P for short – but it can’t get to where it needs to go, including crossing the blood brain barrier. PLP is involved in so many processes – to understand the full extent of how that may affect different systems is yet to be properly researched and tabulated nicely in the official medical literature.
Here is a presentation by a doctor expanding on this notion and symptoms they see in clinical practice
Some have been misdiagnosed with ME/CFS or fibromyalgia first.
It seems it affects some with hEDS. It may form part of our picture - remember little is known about the molecular cause of it...
And who is to say that you can't have two genetic conditions?
How can you know if this affects you? Check your ALP levels. Its usually done as part of a standard blood test, so you probably have the results already in your latest check-up. ALP levels fluctuate - so I recommend checking your prior history of test results too.
--< The cut-off point for what is considered low is different from the one on the regular lab ranges and is age and gender dependent Check with this range [see image] or towards the end of the link there is a calculator. It seems that some may have ALP a little bit higher than the official cut-off point (but still on the low side of normal) and it could still be HPP. More research is needed. >--
hypophosphatasia.com
A database of known mutations causing HPP:
www.sesep.uvsq.fr
If you do need help with diagnosis and doctors - this is a good resource to check https://www.softbones.org
Their patient outreach is super. They can help track a specialist in your area should you find this may apply to you.
There is one more disorder that can present with elevated plasma B6. More on that soon. ?
The way I see it, our doctors have ruled out common conditions before arriving at our clinical diagnoses. Due diligence in ruling out rare conditions with established parameters/testing is missing. A disease can be rare because a very small percentage of the population have it. It can also be rare because few know about it. There is little point in suffering needlessly.
>> If your B6 levels are high, I'd love it if you could let me know. If this true for more than a handful - a substantial finding -I'm collecting info to share with interested researchers. <<
P.S> If there is another section of the forum more appropriate to post this under, let me know too!
I tend to think that everyone here has already explored all possible causes of their diseased state.
Perhaps this one is rare as in not known, and escaped the radar.
Here it goes:
I learned that my B6 plasma levels are a bit high in absence of supplementation.
I asked around in hEDS forums, and there were quite a few who've had their levels checked and high too.
Hypophosphatasa (HPP) is a genetic condition with reduced activity of the enzyme alkaline phosphatase mainly known as a bones and teeth disorder. Fatigue and pain are common, specially after exercise or mild exertion - sound familiar? Chiari malformation, intracranial hypertension, hypotonia, osteoporosis… There are different types and degrees of severity. There is also the natural progression of the disorder in the adult forms, with what they call a honeymoon phase for the first decades of life – and then sh*t hits the fan.
As one doctor put it: you are swimming in pyridoxal 5′ phosphate – a B6 vitaminer, PLP or P5P for short – but it can’t get to where it needs to go, including crossing the blood brain barrier. PLP is involved in so many processes – to understand the full extent of how that may affect different systems is yet to be properly researched and tabulated nicely in the official medical literature.
Here is a presentation by a doctor expanding on this notion and symptoms they see in clinical practice
Some have been misdiagnosed with ME/CFS or fibromyalgia first.
It seems it affects some with hEDS. It may form part of our picture - remember little is known about the molecular cause of it...
And who is to say that you can't have two genetic conditions?
How can you know if this affects you? Check your ALP levels. Its usually done as part of a standard blood test, so you probably have the results already in your latest check-up. ALP levels fluctuate - so I recommend checking your prior history of test results too.
--< The cut-off point for what is considered low is different from the one on the regular lab ranges and is age and gender dependent Check with this range [see image] or towards the end of the link there is a calculator. It seems that some may have ALP a little bit higher than the official cut-off point (but still on the low side of normal) and it could still be HPP. More research is needed. >--
- Check your B6 levels, even if you ALP is normal. Your family doctor can order it, it's a blood test.
- There is one type of HPP which is rare-r: B6 is high but ALP is normal. Confirmed by molecular diagnosis.
Diagnosing Hypophosphatasia (HPP)
Learn how alkaline phosphatase (ALP) and other lab values can help distinguish between hypophosphatasia (HPP) and other metabolic disorders.
A database of known mutations causing HPP:
Divido Ltd
If you do need help with diagnosis and doctors - this is a good resource to check https://www.softbones.org
Their patient outreach is super. They can help track a specialist in your area should you find this may apply to you.
There is one more disorder that can present with elevated plasma B6. More on that soon. ?
The way I see it, our doctors have ruled out common conditions before arriving at our clinical diagnoses. Due diligence in ruling out rare conditions with established parameters/testing is missing. A disease can be rare because a very small percentage of the population have it. It can also be rare because few know about it. There is little point in suffering needlessly.
>> If your B6 levels are high, I'd love it if you could let me know. If this true for more than a handful - a substantial finding -I'm collecting info to share with interested researchers. <<
P.S> If there is another section of the forum more appropriate to post this under, let me know too!
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