Wegeners or periodic fever syndrome ? Help please

[Jools52]

Hi good people,

I have been going through the various and varied, intrusive tests to try and get a definitive diagnosis and my rheumatologist, Dr Harsha Gunawardena, has said that I have all the markers present for a diagnosis of Wegeners AKA GPA but the latest tests have been for what they call periodic fever syndrome. I wish I could get the letter onto this post as it would be better, for those of a medical background, to understand

I had a big amount of blood taken around 6 weeks ago and some were sent off to the free London hospital. There were some that were looking specifically for genetic predisposition to this periodic fever syndrome. The letter goes onto say that although the blood tests do not indicate this, that Dr Gunawardena would want to rule this out before they start me on cyclophosphamide or Rituximab.

Dr Gunawardena has now referred me to UCL Free London hospital, at the national amyloidosis centre, for further investigation of this possibility. Dr Gunawardena has been in touch with and taken instructions from Dr David Jane, at Addenbrokes and he has been given instructions on how to progress this before any real necessity to travel to Cambridge. In effect I am being treated remotely, by Dr Jane.

My latest bloods show ANCA clear, thank god, so I guess the combination of azathioprine and prednisolone has worked although my CRP is slightly elevated at 18 and plasma viscosity if slightly raised at 1.89. They agree that I am atypical of having a small cell vasculitis. The diagnosis part of the letter says as follows

Undefined inflammatory syndrome

cANCA positive but symptoms atypical for small cell vasculitis

Background history

Ulcerative colitis

Chronic low back pain due to prolapsed and bulging discs

Hypogonadism

Depression

It would seem to me that the Doctors know I do have GPA but are going on a very long route to make sure that there is nothing else in play here. I am now more confused than I was at the start of this journey. Since taking the azathioprine and prednisolone I habe only had 3 bouts of the rigors and I was having them at least 2-3 times a week.

Does anyone have any experience of this periodic fever syndrome and, if so, what would be the way forward please ? I don't understand why I am being asked to go to London if the initial tests did not indicate the possibility of this ? Is this maybe just dotting the I's and crossing the T's before embarking upon cyclophosphamide/Rituximab?

Thanks for reading this and for any comments.

Jools

[jackrussell]

Hi Jools 52'have only just seen your post,so late reply. I attended the Royal Free Hospital in London and I to was seen at the Amyloidosis centre, and I have to say they were excellent, they do genetic testing to see if there can be any hereditary factors involved, they keep you very well informed as to what they are doing, and for me at least , it was a great help.I have fevers that last for around 20/40 mins at a time, and a great deal of inflammation.Vasculitis as you know cannot be cured ,but any test that are requested are all in our best interest, From my own experience I would say don,t concern yourself to much about going to the Royal Free, they won't keep you any longer than they need to and any results they may or may not come up with are invaluable.

[jackrussell in reply to jackrussell]

I should have said fevers and rigours . Sorry.

[Jools52 in reply to jackrussell]

Thank you very much. That at least gives me some confidence in gling through with this. It just seems that I am being continually tested but have only had the rough diagnosis of generalised ANCA positive small cell vasculitis. It's been a very frustrating time