Question to Londonanna

Hi Anna

May I ask which tests/main symptoms etc brought to light the fact that you have MEN1?

I ask because I looked at this as a possibility myself for some time, but was told that at 62 I was too old for it!

Was it just the genetic test, or are there other tests that might indicate MEN1?

I'd be pleased to hear about this condition.

Love from Tigerlily xxxx

Hi Tigerlily

Good to speak to you.

Whoever told you that at 62 you were too old was sadly mistaken.   MEN 1 can make itself known at any age, although the later one experiences symptoms the better for other complications apparently and, of course, it means that it has always been there.

In my case the fact that I was only 25 when I had my first pth removal was a clue which was picked up immediately by my Consultant (96% of MEN 1 patients get hpth).   Within minutes of reading my referral he said I would need further surgery and that the fact that it had occured again almost certainly meant there was a hereditry factor.   So he organised genetic testing for me which, as you know, have proved positive in my case.

The genetic consultant at Guys (where my daughter was tested recently) told us that many, many people dont realise just how unwell they are, or how depressed they are and just gently fade away thinking they were just getting old at an earlier age than would normally be expected.   MEN 1 does, in some cases, also just spontaneously occur as well but if there is no hereditry illness factor in previous generations then sadly, it will still be passed on to future generations.

I am sorry to pass this somewhat gloomy news on.   I have already written to Audrey this morning asking why on earth there doesn't seem to be any 'joined up thinking' between medical disciplines and I reckon I struck lucky.   Certainly at my local hospital this wasn't the case and I would remain undiagnosed.   Better the enemy you know I think and Chromosome 11 (the long arm of and the gene which is half switched 'off') has a lot to answer for.

Anyway, I hope this information has been helpful.  Take care.

Anna

That is really helpful, Anna - thank you very much.

I don't know of any hereditary factors in my background - except that my grandmother, (her daughter) my mother and my mother's two brothers all died very suddenly in their early 70's. Both my mother's brothers (my uncles) were alcoholics and suffered from depression, but these afflictions seem to have passed by my mother and she married my father who was a non-drinker. My father died of myelofibrosis.

The reason I had thought of MEN1 in my case was because, when it was seen on US in June, I had to add the PTH adenoma to my "cyst list" of kidney cyst, gallbladder "polyp", ovarian cyst, and also to low thyroid function and pre-menopausal multiple uttering fibroids. I had been having odd un-typical head/face/back neck aches since May this year so asked for a pituitary MRI, thinking that if the head pain was due to a pituitary cyst, then I had a full set to insist on being checked out for MEN1!

The pituitary MRI was clear though, and the possibility of MEN1 has not been entertained by any medics in my case. (But then neither was parathyroid disease, until I insisted on an ultrasound because I believed that my high-in-the-range PTH was inappropriately high for the relatively high calcium level which ranges from 2.5 - 2.73).

I am on the list for parathyroid surgery of Fausto Palazzo at the Hammersmith, so my plan is to have the adenoma removed and then see what that brings. May I ask if that is what you would do in my shoes? Or would it be your view that I should be hot-footing it to your guy at Guys?

Thanks for your time in replying, Anna, and I hope you are still feeling really good yourself.

Love from Tigerlily xxxx

Interesting Tigerlily as I have been adding up the cysts and thyroid probs i have had over the years, so far, kidney cyst +stone, ovarian cyst removed in my teens and now have another, parathyroid, fibroids and overactive thyroid twice. 

Both my sisters have thyroid disease as does 1 cousin and my Dad died from pancreatic cancer. 

Makes you wonder 


Nelly

Oo-er, Nelly - yes, it does make you wonder about this. You and I are similar except that my thyroid is under-active.

I hope Anna will be able to enlighten us further!

Love from Tigerlily xxxx

My thyroid is underactive now after surgery and radioactive iodine for Graves overactive. I have had at least 3 ovarian cysts 2 needing major surgery and i want this one gone but docs won't do it.

I always suspected my Mum passed something onto me as she took some anti miscarriage drug, not thalidomide but one that is now known to have caused endocrine problems for the offspring but maybe my problems are from a genetic mishap.

The plot thickens 

Nelly

The plot certainly does thicken, Nelly. What size is the current ov cyst that doctors won't remove? Is it because of the previous surgery that they refuse? Mine is 9.5 cm, so about 4" max dimension.

Have you been checked out for MEN1 ever yourself?

It's a shame about the drugs our mothers were encouraged to take, but I suppose they thought they were doing the right thing at the time, so there can be no blame - only to the drugs companies who wanted to sell/try out their drugs to make money. Don't get me started on that one!

We'll both be interested in Anna's reply, clearly, and may even be meeting up at Guys for a genetics test!
We could have a pre-Tea at the Ritz just to try it out before we all descend upon it in greater numbers!!

Love from Tigerlily xxxx

I find it interesting how parathyroid disease can be related to other conditions and diseases especially genetically. When my doctor looked into the connection of pHPT with my disease (Tuberous Sclerosis Complex), he discovered there were only 3 recorded cases. But my Genetics counsellor confirmed that due to the fact that a parathyroid adenoma is a benign tumour it was definitely linked. In fact I have adenomas, fibromas, fibroids, polyps and other benign tumours in various parts of my body and wasn't too surprised to discover what a parathyroid adenoma actually was. The only thing the Endo and Geneticist were surprised about was that there was only one. I think that hyperparathyroidism is a very misunderstood and under-researched disease that has bearings and connections to other conditions in ways no one understands. 

Love and hugs 

Brigitte xxxx

Tigerlily i can't remember the ov cyst size, last scan was a year ago. The gyn con i saw wouldn't operate because of previous surgery and at the time i had been diagnosed with angina so she said it would be to dangerous, stupid woman  the first one i had in my teens was the size of a rugby ball so i lost the ov as well, second one ruptured so it was an emergency op which was bodged. 

I can just picture my GP's face if I suggested MEN1 testing, was hard enough with pth, don't imagine she could cope with another unusual problem 

I might run it past the endo if i get round to seeing her again although she was hard work as well.

My mum only took the drug with me and I'm the only one of the 3 of us to have multiple health probs, younger sister had Graves and that is hereditary, older sister is just underactive but she has antibodies so all connected. 

I also have a mystery liver problem so don't know if that should be added to the list, had loads of tests and a biopsy but they haven't discovered the reason for whacky blood results, been like it for 7 years.
And another one is ulcerative colitis which they think is autoimmune, had that since i was a teenager. So lots going on, more research required 

Nelly

WOW!   Ladies.

Can all our symptoms be coincidence?   I agree with Brigitte, our parathyroids seem to have consquences and wider ranging effects than anyone realised.

I too had an ovarian cyst found when I had my hysterectomy and I opted to have everything removed at that time.  The doctor insisted that she checked me out for BRACa 1 and BRACa 2 at the same time which, thankfully came back negative, so I dont have to worry about that and the histology came back as negative for the cyst.   The only other 'lump' I have had was a lipoma (I have since found out that lipomas are an indication of MEN 1) which is a fatty lump under the skin.

I didn't actually have an adenoma on my para glands either, they were hyperplastic which means they were huge and very busy chucking out pth and calcium.  So good riddence to them!

MEN 1 means that I am tumour suppressed though, with two sites in particular being at greater risk of benign tumours, the piturity and pancreatic glands.  Just occassionally the adrenal glands are affected but that is very rare.   The thing that amazes me is that everywhere you go, you are asked for a full medical history.   But no one has ever said to me, and I guess not to all of you, that there could be a link between everything.   I asked endlessly why I was getting kidney stones, what triggered my remaining paras to become so active again after such a long time but never received an answer until now when I stumbled upon a team who are really interested.

You asked me what I would do in your shoes, Tigerlily.   I think I would definitely mention the problems common to everyone to Mr Palazzo when you see him and see what he says.   This has all the makings of an exciting research project for someone and Mr P. is part of the team at Imperial where I go (I dont see Mr. P).   I am already part of a research programme with AMEND and on the government's new research programme into rare diseases.

Upon hearing all your stories, it can't be that so many of us have similar/same problems without there being a link of some kind.

Hope everyone has a good day (or at least a not-so-bad day).

Anna

Hi Tigerlily,

Do you mind me asking if your father's myelofibrosis was primary, or secondary to something else, such as high PTH? I'm guessing you would have mentioned that so possibly not.

Are you familiar with the papers published by Bhadada linking marrow fibrosis with phpt? Fortunately reversible with parathyroidectomy, so I don't want anyone to worry, despite the fact it's probably responsible for a lot of the anemia going round. My hematocrit gets as low as 34 regardless of my iron status so it would make sense my bones aren't producing enough blood.

Love
Dee
xxx

Hi Dee

No, I don't mind you asking at all.

My father's spleen enlarged somewhat which was the trigger for him being taken into hospital for tests. He was finally diagnosed with myelofibrosis but died soon afterwards from septicaemia. It was difficult to draw blood from him (and from me ...) and both his arms were black and blue from wrist to elbow with attempts to take blood samples. I think it was this that caused the blood poisoning. I haven't actually allowed myself to get as angry about his treatment and his death as I think I should have been. This was for my mother's sake, although she also died (suddenly in the street - the way she would have wanted to go - from some sort of thrombosis) 6 months later.

This was in the late 1990's and I only started to join up the dots in my PTH drama about 3 years ago, so until now I have missed any connections between PTH/myelofibrosis and my father. I'm really grateful for your indication that they might be linked and for the name of the paper writer. This forum is really so valuable for this type of information!

Off I go now to research this connection - thanks again, Dee.

Love from Tigerlily xxxx

Ladies - sorry gone off on a bit of a tangent and omitted to reply to Nelly and Anna's last posts on this string.

Nelly -  you seem to have a lot of the same complaints as I do! Thanks for sharing all your information - it's so useful to hear the details of other people's situations. I hope you are not suffering too much from the ov cyst at the moment. I don't get any symptoms from mine (about 4 inches max dim).

I know what you mean about mentioning MEN1 testing. I "whispered" it once to a GP as a possibility and he just raised his eyebrows, so I didn't pursue it then. But I might now that Anna has filled in the gaps in our knowledge about this disease.

Anna - thanks for the extra info and for your suggestion. I agree that this could be the basis for a very interesting research project. If I wasn't so washed out generally, I would volunteer to do it myself! You are so right about there having to be links between things in our medical history, but there is no-one but ourselves to "project-manage" the whole show. I suppose a supportive GP should be doing that really, but they are very thin on the ground in my experience......

Dee - I've done a lot of reading today about links between myelofibrosis and HPT and was stunned to learn from the Bhadada papers that he feels it is the HPT causing the myelofibrosis, and not the other way around!! And the myelofibrois resolved itself after parathyroidectomy in the patients he studied!

I find this amazing. I had assumed that the myelofibrosis my father was diagnosed with might be hereditary and I might be in line for it. But now it looks as though he may have had HPT (which caused his myelofibrosis), which is also hereditary, and I seem to have ended up with that! I don't at all fancy asking to be tested for myelofibrosis as it is rather an invasive test. I think I'll just hope that if I have it I will find that it resolves after the PTH adenoma is removed.

This all brings me back to something I think I mentioned in another post - the question of whether parathyroid disease is just an independent disease entity, whether it is a symptom or itself possibly caused by other health issues, or whether it is the precipitating factor for other diseases (like myelofibrosis, in my father's case).

A number of forum members have not achieved the "cure" we all dream of after having PTH adenoma removed - and this was also the case with Simon (who started the original version of this forum) who found that he needed to research more health issues after his operation did not cure him of his troubles.

Something else bothers me about the description "hyperparathyroidism". I use the term to describe having a high-in-the-range serum calcium level at the same time as an inappropriately unsupressed PTH level, all caused by the presence of a parathyroid adenoma, as is the case with me. But I have noticed that some medics use the term "hyperparathyroidism" merely to indicate a high PTH level. My own GP said to me last week that they don't treat high levels of parathyroid hormone, so she must have been using the term "hyperparathyroidism" to denote just that. What a minefield this subject truly is!

I will post this in a new topic as well as here, so it doesn't get lost in this string, as I feel a lot of forum members will be able to comment on this.

So thanks, Ladies, for your input here, and I'll let you know what else I come up with regarding PTH/myelofibrosis/other issues.

Love from Tigerlily xxxx

Nelly,
    I think at one time women threatening to miscarry were being treated with progesterone.  A friend of mine was given this years ago and then I know the male offspring were being followed for possible problems of the G Urinary tract.  
     ......Anna  I really agree with you when you said a physician said many people don't realize how depressed or unwell they are.  If no one looks and nothing is documented then it doesn't exist.  At least not formally.
         Nancy --- trying to keep my chin up in the cafe.

Tigerlilly,
     I think my dad was self medicating with alcohol, beer, for depression.  I believe now that he had parathyroid disease.   His eyes were always reddened the last few years of his life and he had gastric acid problems. Also, he never slept in.  He was always up early.  I would love to sleep in but it cannot happen.  I use to be able to. 
      xxx,  Nancy

Hi Nancy - nice to hear from you - sorry you feel you're stuck in the Limbo Land Café - at least we are a merry crown there at the moment!

Yes, I'm thinking that my father had PTH disease now, just the same as you think about yours. Funny how things come round in a circle sometimes, isn't it? You've been mentioning about the possibility of inheriting the disorder from your father, and now I think I have to agree to the same thing.

I've been doing some more research and come up with - haven't got the paper to hand but from memory - something to do with an increased thickness of the carotid area (intima?) also connected with PTH. I seem to have developed a distinct "feeling" of thickness now in the carotid area on the other side of my neck to the adenoma, and I think this is what you had too - correct me if I'm wrong as I have difficulty remembering it all these days!

I'll let you know when I find the paper describing this. Meantime, really nice to hear from you, Nancy, as I'm often thinking of you.

Love from Tigerlily xxxx