Tag: JAK poly

Secondary Polycythaemia and Medical Buses

~ quantumdreamer ~ Leave a comment

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

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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.

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My Haemoglobin levels are at around 17.5 or higher.

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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….

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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!!!

Bioethics, Genetic Testing and Notification

~ quantumdreamer ~ Leave a comment

This morning, just for a change, we went to another hospital for a genetics follow up to the wife’s breast cancer. In France they are very keen on prophylactic measures and like to test things in a lab wherever possible. The wife’s blood is going to be screened for genetic predisposition to breast and ovarian cancer. The results will have implications for her and her siblings, including the men. In French law the geneticist or the wife herself MUST inform her brother if the tests suggest that he too might have a predisposition for cancer. This true for if he lived in France not sure if it extends legally to the UK. The form letter on the government site, for the geneticist to fill in, does not really hide the identity of the provider of genetic material very well. Today she advised against sending this. It was better to pass on the tidings of joy personally.

« Décret n° 2013-527 du 20 juin 2013 relatif aux conditions de mise en œuvre de l’information de la parentèle dans le cadre d’un examen des caractéristiques génétiques à finalité médicale.

Notice : la loi no 2011-814 du 7 juillet 2011 relative à la bioéthique a modifié le dispositif d’information de la parentèle dans le cadre d’un examen des caractéristiques génétiques introduit par la loi no 2004-800 du 6 août 2004 relative à la bioéthique. La personne concernée est informée, avant la réalisation de l’examen de ses caractéristiques génétiques, de l’obligation qui pèse sur elle, au cas où une anomalie génétique grave serait diagnostiquée, d’informer les membres de sa famille potentiellement concernés dès lors que des mesures de prévention ou de soins peuvent leur être proposées. »

The gastroenterologist following my colon cancer has been very pushy about me notifying blood relatives because there is some genetic component to colon cancer.

I have already tested for HBA B27 which was negative therefore there are no requirements for notification. There are no possible interventions foreseen.

I am considering HFE and JAK poly screening, the latter of which costs ~€1500. The HFE if positive would indicate hereditary Haemochromatosis which can have interventions. The JAK poly screening for predisposition to malignancies, would if positive, require notification. There would under law be an obligation to inform.

This explains why the GP isn’t overly keen. There is a possible can of worms attached.

The documentation for the test today has inherent in it an authorisation to share genetic test results with relatives if relevant to their healthcare.

Given the price of the test, I am likely to need a specialist to write the JAK screening prescription. They may well want a “who do you think you are” family tree.

You learn something every day…and given the French love of protocol this is non-negotiable.

There are often implications we do not consider…and only find subsequently.

Once you have had test results you cannot un-have them or un-see them…

Hmnn…