Story on the BBC about MPN mis diagnosis

[MarkD6701]

Hi All,

Has anyone seen the story on the BBC about the lady who was initially mis-diagnosed with a MPN?

bbc.co.uk/news/uk-55767782

Mark

[john0084]

Do you think she's been posting on hear. Quick read of the story shows what a difficult condition it is to understand clearly

[Wyebird in reply to john0084]

Lol

[Whatsisname]

Even a district general hospital haematology dept. should have been able to establish a differential diagnosis of secondary PV and not primary. Subjecting this poor lady to 18 months of chemo is awful. I’m glad the trust acknowledged their mistake, however the shock and fear is something most of us on this website can identify with.

[Tico]

Will look at it in a bit Mark, just wanted to know if you're ok now after feeling a bit rough?

[MarkD6701 in reply to Tico]

Hi, yes I'm feeling much better now thank you, although my arm is still a bit sore.

[Tico in reply to MarkD6701]

👍👍

[HelenLou]

In the story it states "She asked if I'd had a bone marrow test and scan of the spleen to confirm the diagnosis - I hadn't had either. " My understanding is that a positive jak2 result is all that is needed. Which is correct?

[Whatsisname in reply to HelenLou]

To my knowledge BMB is required to give a JAK determination. I’ve had two and both came back positive, hence my primary PV diagnosis. Neither were much fun. Also had several spleen ultrasounds, showing it slightly enlarged. BMB samples need to be sent off to specialist lab for JAK determination, but BMB and U/S work can be done at a DGH.

[Jsb45 in reply to Whatsisname]

My hematologist and GP both said a positive Jak2 was confirmation and that a BMB would only show the degree of scarring. So unless I wanted a BMB there was no need for one. A Negative Jak2 would have sent the Drs in a different direction.

[Paul_1971 in reply to HelenLou]

Hi

A BMB is not necessary to diagnose. I think historically it was used more but now they will rely on all the other pointers which will help diagnose.

If your blood counts suggest Polycythaemia of some description, and you test positive for the JAK2 mutation then a BMB is unlikely to offer any further information, other than maybe the level of scarring in the bone marrow, but is unlikely to affect diagnosis and / or treatment.

The BMB and Spleen Scan in the article are red herrings. The key thing that appears to have been missed is the test for JAK2.

Had she had that and it came back negative then that would warrant further investigations, such as smoking history.

[mark382 in reply to Paul_1971]

I was diagnosed with Primary Polycythaemia 12 years ago and am JAK2 negative. I had lots of blood tests and scans to confirm diagnosis. Never had a BMB. I did read somewhere that a BMB isn't always required to confirm PV. The BMB would be used as a reference point for future deteriation of the condition.

[Melanie66 in reply to Paul_1971]

Hello Paul ..I had a Bmb and asked was it really necessary (as I was afraid)I was told it was ...so went ahead ..got my Et jak 2 diagnosis... but from all that I’ve learned and heard ..a Bmb is always the only definite confirmation of Mpn ... such conflicting information we all seem to get .. perhaps it just depends on the Heamotologist ...Lainie

[floodwoman23 in reply to HelenLou]

Actually I think a BMB is recommended and essential. I was diagnosed ET by my local hospital, and told I needed no treatment as I’m relatively young (44) even though I have a complicated history of a stroke, clots and miscarriage and a slightly enlarged spleen.

I saw Claire Harrison @ Guys for a 2nd opinion. She did a BMB, and changed the diagnosis to PV based on the results. My bloods weren’t yet showing it, but my bone marrow showed signs of PV. She also started me on Hydroxy. Interferon would be preferable, but I can’t take it because of other conditions. I now see her yearly and my local haemo every 3 months.

[ChattyPanda in reply to floodwoman23]

Then, in your case, it sounds like the BMB was needed for your diagnosis. But Paul_1971 is right, if the blood counts point to PV, a positive JAK2 mutation is enough for a confirmed diagnosis.

[PhilReade in reply to floodwoman23]

Hi I started in 2013 with signs of haemolytic anaemia had BMB in November 2013 and May 2014 shown nothing I had a splenectomy in June 2014 I knew myself after reading up I had PV but was only after Angina attack and a Haematoma in March 2015 I was diagnosed with Jak2 positive with blood test and started on hydroxycarbamide I have 50/50 ET and PV now under Professor Sommervaille at the Christies hospital

[Bears23 in reply to HelenLou]

I would recommend a bmb. I’m so glad I had one when diagnosed. They used it when I required a second bmb to track progression.

[Otterfield]

What I found disturbing is that she was told it would shorten her life. Even allowing for some journalistic errors, it's a shocking story.

[Aime]

Oh that’s awful! I’m also surprised that there’s no mention of checking for jak2 and other mutations. Aime 😱

[Lena70]

It is terrible to be misdiagnosed, but what chemo was she on to cause hair thinning, teeth getting loose, and receding gums? Does hydroxy cause these things?

Obviously I'm not on hydroxy.

[Paul_1971 in reply to Lena70]

On rare occasions yes I believe these can be side effects.

[Tico in reply to Lena70]

As Paul stated they can be rare side effects on Hydrea but also take note that when women hit their fifties, hormonal changes due to menopause or pre-menopausal changes can also cause exactly the same symptoms.

[Lena70 in reply to Tico]

I’ve been wondering how those ch-ch-ch-ch-changes will effect my PV. I just turned 50, but so far my hair and teeth are hanging on,

[Tico in reply to Lena70]

Lucky you, still got my hair, missing a few 'choppers'. Ha,ha😬 Tina.x🤗

[Minu68 in reply to Tico]

My teeth have loosened since starting on hydroxy, and have lost 2 - they came out like baby teeth Some hair thinning, but I have tons of curly hair so only I have noticed. Interesting what you say about age being a factor for women, have just become officially menopausal too.

[Tico in reply to Minu68]

I went into an early menopause,I was 45- 46, I believe because of the Hydrea, I was taking a large dose for a long time. Good job i'm not vain and I have a sense of humour. I wear a partial and when I used to take it out in front of them, they would spend ages tugging at their own, wondering why they couldn't do the 'magic trick' like nanny! 🤣🤣 Tina.x🤗

[Minu68 in reply to Tico]

Lol, good to have a sense of humour about it. Now I know I'll gain a party trick if I do lose more hair xx

[Tico in reply to Minu68]

🤣

[Trueblue8 in reply to Lena70]

On high doses it is common, however, on the relatively low doses that many of us are on it is rare I think. I take 500/1000 on alternate days and have minor side effects, which are manageable.

[Kari1961]

That is a very disturbing story!

I've never had a BMB, and was told that it wasn't necessary for diagnosis. When I was diagnosed with PRV I had blood test, scan, x-ray and lung capacity, oxygen level test. They all confirmed Jak2 V617F mutation.

I also wasn't put on hydroxy straight away - I spent two years plus having constant venesection. Plus my Haem would never state that PRV is life shortening.

I feel really sorry for her and her misdiagnosis, but she's definitely been led by the press to pose for misleading photos. The photos make it look like she's having treatment in a chemo outpatients ward.

😟

[Tico in reply to Kari1961]

That exactly what you would think but I assume she was actually having a Phlebotomy, also Kari as I replied to Lena above the very same symptoms can be caused by hormonal changes in pre or menopausal women in their fifties. Paul is right, the jak test was the key to it which you can do through a blood test. Some of the reporting in the article is misleading but at the end of the day she was mis-diagnosed. To what extent she was effected we don't know. Tina.x🤗

[Kari1961 in reply to Tico]

I agree Tina - My hair thinned a lot, as did my skin... unfortunately I didn't lose weight, I gained it.

😂. x

[Tico in reply to Kari1961]

🤣🤣🤣 and me!

[Wyebird in reply to Kari1961]

😂the only symptom I really wanted was weight loss. - I’m still waiting😒. .. and not through dieting either!!

[Susana7 in reply to Kari1961]

Obviously having a misdiagnosis is very unfortunate, but this story and photos are misleading - most likely hyped up to chase the compensation...

[Wyebird]

Thank you, I’ve just scanned the article but it’s very misleading when it says she has not got cancer and that she has PV. Especially when it was Guy’s she went to.

[Tico in reply to Wyebird]

She was originally diagnosed with Primary Pv, as we know a rare blood cancer at kent Hospital but transferred to Guy's where it was determined she had secondary Pv, therefore not a blood cancer. Tina.🤗

[Wyebird in reply to Tico]

Thank you so much for clearing that up. I have ET and knew that could be secondary but didn’t realise the same could be said of PV. Gosh a huge mistake

[runnerbird71]

Isn’t knowing how much scarring is in the bone marrow important? If it’s chronic and progressive would that be a reason for transplant sooner ?

[Paul_1971 in reply to runnerbird71]

My understanding not so much with PV.

Someone may correct me but with PV whatever the scarring its unlikely a transplant would be considered as the risks of the transplant would be greater than the risk from PV alone.

I had a BMB but only because they thought i had MF initially. As they have learned more about mutations in JAK2/CALR etc if this can point towards a diagnosis then no BMB is necessary.

Although i am aware that plenty of people do still have them, i guess as you say to monitor progression. Although i had one 8 years ago and havent had another since.

[Whatsisname]

I obviously stand corrected with regard for the need for a BMB. Thank you for putting me right on this point.

[Lettie_WP]

Poor woman. However, as has been said, it isn't always straight forward to diagnose.

Since Feb '20 I've been told I might have PV. Then in Oct '20 I was told I almost certainly did have PV - haemoglobin and haemocits consistently high and EPO low. (But my spleen was normal and I was JAK2 neg). I pushed a bit, asking if it might be other things like dehydration / diet. (I think the consultant thought I was in denial). I was told that was very unlikely, but further bloods were taken over 6 weeks to see 'where I was' and to guide how to proceed treatment wise. As you all know - it was a difficult thing to hear - wills were written, long term plans changed (cancelled!) I felt my world had fallen apart.

However, the further tests (without treatment, other than drinking more water and coming off my weight loss diet), showed the bloods had all dropped back to within normal range - high normal, but normal all the same. The consultant was surprised and now says he doesn't think I have PV!

I'm having another FBC and the EPO check re-done next week. But apparently, even if the EPO is still low it might be normal for me. No biopsy is planned atm, but I guess that might be an option after the next FBC and EPO test. It's all very confusing and distressing. However, I'm not cross - something is / was clearly amiss and needed investigating. If it turns out I don't have PV I will be very happy indeed.

[Tico in reply to Lettie_WP]

Fingers crossed.🤞Must be terribe not having a definitive answer. Keep us updated. Tina.🤗

[Lettie_WP in reply to Tico]

Thanks. It has certainly been a challenging year! Will do

[Lettie_WP]

Also, does it say anywhere what her secondary PV is caused by? I couldn't see any reference to it and what symptoms it caused.

[Tico in reply to Lettie_WP]

Thats a very good question, it didn't say what the cause was. Tina.🤗