Tag: HFE gene test

Low Parathyroid Hormone – Hypoparathyroidism?

~ quantumdreamer ~ Leave a comment

The results for the three different mutations of HFE gene are in. I don’t have any of these. Which excludes the vast majority of the diagnoses for hereditary haemochromatosis. The footnote from the lab suggests contacting the centre for rare iron related disease in the big university hospital 150 km away. They may just talk with me as an ex-boffin.

I do feel a tad rusty these days, like the tin man my joints could use some oiling.

That means the polycythaemia primary or secondary question is in focus. Is there a malignancy or did my blood just adapt to smoking tabs?

My parathyroid hormone (PTH) is low, it is 26 pg / mL.

———————–

“The iPTH reference interval of a healthy blood donor population was measured as 25.2–109.1 pg/mL (2.7–11.6 pmol/L) at 2.5 and 97.5 distribution percentile. The iPTH reference interval from data stored in the laboratory database was 19.3–112.5 pg/mL (2.0–11.9 pmol/L). Furthermore, 60% of the whole population had prevalently insufficient vitamin D concentration (<30 ng/dL; <75 nmol/L).

Mineri et al., Clinica Chimica Acta Volume 521, October 2021, Pages 1-8.”

———————————

So it is at the rare end of a distribution yet just within the 2.5-97.5 percentile range. It is probably within experimental error out of the range. The error bars on 26 picograms must be big in a small sample!!

–

“PTH is secreted primarily by the chief cells of the parathyroid glands. The gene for PTH is located on chromosome 11. It is a polypeptide containing 84 amino acids, which is a prohormone. It has a molecular mass around 9500 Da”

–

My results for Calcium and Phosphorus were very normal, this latter statement is a bit weird. Low PTH levels are very rare and usually come with low Calcium levels. That pathway is messed up. Low parathyroid hormone screws with the Calcium concentration and bone turnover.

——

Symptoms of hypoparathyroidism

Hypoparathyroidism often starts if glands in your neck are damaged during surgery.

Symptoms include:

  • a tingling or burning sensation in your fingers, toes and face
  • muscle pain, stiffness and spasms

————

I have these two but these are caused when Calcium is too low!! So I do not have hypoparathyroidism.

We have another “contradiction” of sorts so the GP has asked advice from an endocrinologist. My guess would be re-test and if the value is still low maybe do something.

I am going to have an Alpha 1 Antitrypsin assay tomorrow which may add a piece to the jigsaw puzzle, concerning my lungs.

I’ll wait to hear from the GP as to what the endocrinologist suggests. It could be more tests, or not.

On the GP front we are probably good until September now…fingers crossed…

The working notion is that whatever it is that may be going on, it is just not manifesting in a sufficiently serious way, yet…

It could just go away or it could develop.

I am a bit of an anomaly, so it is no surprise that my blood results are a tad skewed from the normal.

Secondary Polycythaemia and Medical Buses

~ quantumdreamer ~ Leave a comment

When you wait for a bus isn’t it always the case…

–

–

In the near future I again have a clustering of medical appointments. There are three the week after next. One of these is with an orthopaedic surgeon. Then later I get to see an anaesthetist and then the colonoscopy chimney sweep. After that it is prostate fun and games. Since it was a few years since my “chimney” was last cleaned, I anticipate a few polyps. Which will be excised and sent for biopsy.

–

–

My Haemoglobin levels are at around 17.5 or higher.

–

The blood results for HFE mutation have been sent to the GP and only they can give them to me. It is probably safe in my case to give them without narration. I won’t freak out. This is France and protocol is protocol. If negative {normal} then the consultant rheumatologist suggested JAK poly screening to explain the high haemoglobin, polycythaemia (erythrocytosis) results. If HFE mutation positive then I will be giving a pint a week of blood as haemochromatosis induction therapy. Because I have had cancer this blood will probably go down the drain, it is not good for vampires.

“Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm.”

The default diagnosis of secondary polycythaemia due to historical smoking, early stage hypoxia due to COPD and perhaps early adolescent altitude is the most likely. The JAK 2 screen is for some rare but serious stuff. Myeloproliferative neoplasm is not a nice phrase. It is a dot the Is and cross the Ts test. It needs a specialist prescription.

The blood results have not found a simple, normal, explanation for my osteoporosis.

The causes can be attributed to the Holy Trinty: Fat Fags and Booze. Although I am technically obese, I am also muscular, there is meat and lard. The GP may be able to shed some light on what is going on when they give me the HFE gene results. My calcium and phosphates are normal. They may suggest more tests, specifically liver, looking for fatty / alcoholic liver etc….

–

–

I am not expecting things to be tied up or solved.

Sometimes it is just one of those things.

I guess the most important thing is that there will perhaps be clarity on the replacement hip situation. The if, where and when. Some decisions will need to me made, some preparation needed. There may be wood to chop and a gardener to secure for the time(s) when I am out of action.

Looks like a summer of fun!!!

Genetic Counsellors and Cans of Worms

~ quantumdreamer ~ Leave a comment

I learned a new phrase today “genetic counsellor”. Apparently, at least in Canada, such things exist. I have been recommended to have the HFE gene test to see if I have hereditary haemochromatosis (HH). This for completion. Back in 1994 I visited this high haemoglobin “space” and was bled regularly at St Thomas’. Retrospect suggests that I may have had an ongoing health condition which was missed back then.

–

–

They took an armful each time. 

This HFE mutation would provide a benign explanation for my raised haem and ferritin levels. My ferritin levels have been increasing with time over the last four years. I don’t really have many of the symptoms associated with the genetic disease. It is linked with the less benign polycythaemia. Which would require a wider more substantive gene panel test, so-called molecular oncology. The authorisation for this testing is probably reserved for specialists. Iron overload is not without consequences. It can “cause” cancer or be correlated with it. Medical literature often blurs correlation with cause.

The problem with all this new-fangled gene testing is that it can open a can of worms

–

–

Needless to say, the genetics are complex.

–

–

I would be a mutant of sorts…

The next stages are Iron MRI and/or liver biopsy. The latter does not sound like much fun!!

Liver disease is possible maybe even likely, but I am largely asymptomatic. My enzyme work was ok.

—————————-

The next stage of inquiry would be to look for myeloproliferative neoplasms which are rare, not lottery winning rare, but rare enough. Search of JAK 2 and other related things starts increasing the price. JAK 2 can mutate.

—————

“Mutations in JAK2 have been implicated in polycythemia vera, essential thrombocythemia, and myelofibrosis as well as other myeloproliferative disorders. This mutation (V617F), a change of valine to phenylalanine at the 617 position, appears to render hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin, because the receptors for these growth factors require JAK2 for signal transduction. JAK2 mutation, when demonstrable, is one of the methods of diagnosing polycythemia vera.”

————————

The thing is looking closely at most people my age the chances are that you will find something which has gone wrong.

The French sites suggest that some kind of follow up is warranted because of my Iron status.

Not sure what if anything the GP will recommend….

The osteoporosis situation seems simpler to treat with some pills, supplements and vitamins. But could have an Iron cause.

Given that the haemoglobin situation has been ongoing for, perhaps, thirty years it seems unlikely that any new unpleasant things have suddenly taken hold. But the ferritin level has doubled since 2021.

There is part of me that thinks that I just let this all drop…The osteoporosis might have enabled the fracture of my femoral neck six years ago. I have perhaps been living with it since. Simple answer is to not fall over.

A few more pills is no big deal however…

————————–

hereditary haemochromatosis – regularly being bled.

Not HH – Iron MRI / Liver biopsy —

Liver disease – it depends on what – treatments in absence of virus are usually diet and no booze.

Something fancy and esoteric – myeloproliferative neoplasms – massive complex can of worms

The French sites suggest that some kind of follow up is warranted because of my Iron status.

What is inside the can…?