Author Topic: Is it Amyloidosis?  (Read 372 times)

Comete

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  • Reason for joining: I'm concerned I may have this
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Is it Amyloidosis?
« on: April 29, 2021, 04:06:34 pm »
Hi, I've joined the forum because I'm wondering if amyloidosis might be a possibility, and wanted to get advice on how to make sure it's not missed.  I want to add here that I'm autistic which means that I don't always get the social expectations, so apologies if posting here in this way isn't appropriate.  I'm aware that I feel better about scary things if I know as much as possible, so hence wanting to post here.

As a background, I'm 45, I've had Hashimoto's for 20 years - bloods normal.  I also have Sjogren's Syndrome which was diagnosed by salivary gland biopsy and schirmer's test about 15 years ago, because I don't show the antibodies.  In 2013 I had a minor transverse myelitis lesion at c5/c6 which they put down to sjogren's.  Around the same time, I had a lateral rectus palsy, an afferent pupillary defect, and blurry disc margins.  They never found reasons for this and MS was excluded.  I've continued to have difficulties neurologically, mainly peripheral neuropathy, but recently had odd symptoms which my rheumatologist has suspected as being autonomic (random patches of goosebumps, usually one one side, unless I sneeze which triggers goosebumps head to toe, heart suddenly racing, blood pressure variations).

Over the last year or so I've been suffering with chronic headaches with migraine type features but not typical.  Very consistent left eye pain (behind eyeball) with the headaches. I've been very tired, and for about a year I've had a swollen tongue, which gets very painful with use.  By the end of a busy or bad day I'm in so much agony I can't sleep, and I also end up slurring my words which others have noticed.  I get a lot of pain in my face bones too. My bite has changed - presumably because of an enlarged tongue pushing on the teeth.  The tongue colour-wise looks mostly normal, except for some irritation at the tip, and teeth marks along the sides.

Other odd symptoms include flat bright red marks, not painful or itchy, which appear exclusively around my upper lip or chin. One or two at a time.  Suddenly appear and then gone again in a day or two as if they were never there.  They aren't bruises - at least not the normal type, but I am prone to easy bruising too, for instance have had a pretty severe bruise appear on my upper abdomen above the belly button for no reason.   I get a lot of pain underhand behind my left ribs.  Over the last couple of years I've had general blood tests at doctors and my platelets etc, seem OK.

In the last few months I've become very, very tired and easily exhausted, headaches every day.  I'm with the endocrinologist with my long standing thyroid issue, and I told them about my tongue and tiredness.  They have checked my thyroid levels which are OK but with a low TSH (and normal t4/t3) but I do take liothyronine with my t4 so they think it's just suppressed.   They did however take IGF-1 bloods, because of my enlarged tongue, but they came back normal and I was discharged. 

I've had so many odd small symptoms, and my GP is very dismissive, so I did a bit of googling (a year of a painful swollen tongue that no one seems to think is a problem will do that!) and I kept finding that amyloidosis is a top cause of this in adults, but no idea if my symptoms fit the picture.   

This week, my tongue felt different... more achey right at the base, so I had a peek in the mirror and saw it was really badly purple bruised right at the back.  I called the GP surgery and a different GP brought me in and agreed that something odd was going on.  She has referred me on a 2 week MaxFax cancer referral, as she didn't like the look of the bruising and the fact my bite has changed, she did say she thinks it's unlikely it's cancer but hopes that the referral will help to find the answer. Because she actually listened and agreed there's something going wrong in my body, I decided to tell her I'd googled and amyloidosis came up and she agreed it might be a possibility but that she didn't know much about it, or who to refer to. We decided let's get the cancer referral out of the way, and if they don't find anything, that we'll go back to the drawing board.

So I suppose I'm asking - is there a possibility based on the above that it could be Amyloidosis?  Or equally does is sound very unlike it? Is it something the MaxFax team might consider anyway?

I know I shouldn't need to worry about this, but past experience tells me that rushed hospital doctors don't have time to piece together lots of random symptoms, and that they tend to say 'I think it's this, let's do the test, nope not that' and then don't try to find what else it could be.  So I'm worried if it is amyloidosis it's likely to be missed.  Obviously I just want the right answers and to feel better, but with the possibility of a poorer prognosis if Amyloidosis if it's found later, and having had the tongue thing for a year, I just want to be safe.

Thanks so much and I'm really sorry it's such a long message!

Miriam Vered

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Re: Is it Amyloidosis?
« Reply #1 on: April 30, 2021, 11:29:37 am »
Hi Comete,
Welcome to the forum. I'm sorry to hear about your illness. You can ask your GP to refer you to the NAC - information for referring physicians is available here: https://www.ucl.ac.uk/amyloidosis/national-amyloidosis-centre/information-referring-physicians
You can also ask your GP to contact the NAC doctors to consult about your case - contact information is available here: https://www.ucl.ac.uk/amyloidosis/national-amyloidosis-centre

Good luck

Comete

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  • Posts: 2
  • Reason for joining: I'm concerned I may have this
  • Diagnosed: no diagnosis
Re: Is it Amyloidosis?
« Reply #2 on: May 03, 2021, 03:53:01 pm »
Thanks for your help.  Do you think it would be best to wait until the current Maxillofacial process is complete, or do so at the same time? I've now got an appointment on 11th for Maxillofacial.