About my diagnosis
Over the course of late 2010 and 2011 I had a couple of seemingly minor health niggles, one being some minor soreness/roughness around the edge of my tongue and the other being intermittent blotches on my eyelids. They weren’t bothering me much, but I followed the issue up with my home GP, in particular because at a health check up in May 2011 the health check GP mentioned that the eyelid rash could, amongst many other innocuous possibilities, be indicative of something more serious (though she stressed that this was very unlikely).
After a few blind alleys, a blood test was done which led to a referral to a see a consultant haematologist at the end of March 2012 at Southampton General Hospital. The consultant suggested that my clinical indicators were consistent with a rare condition called AL amyloidosis, though various further tests needed to be carried out to confirm this, and to also exclude a related condition, multiple myeloma.
Over April and May 2012 I had various diagnostic tests done, including further more detailed blood tests, a bone marrow biopsy (taken from the back of my pelvis) and a full skeletal survey (by X-ray). I was also referred to the National Amyloidosis Centre at the Royal Free Hospital in London, who are world experts in amyloidosis. And that’s the opinion of the equivalent centre in Germany (at the Universitätsklinikums Heidelberg). The NAC is the only hospital in the UK able to perform a SAP scintigraphy scan, which can show the distribution and amount of amyloid proteins within the body’s organs without the need for biopsies.
As a result on 22 May 2012 I was diagnosed with multiple myeloma (so much for ruling that out) and AL amyloidosis. The SAP scan in London showed that the organ most significantly affected by the amyloid is my heart, although the extent of the amyloid depositions was fortunately not very advanced. This was also confirmed by the consultant cardiologist whom I saw at Southampton General, who said although some initial signs could be seen on my ECG and ultrasound, my heart wass still functioning essentially entirely normally. My favourite quote of his was “for an amyloidosis patient, you have the best functioning heart I’ve ever seen”.
For more authoritative information about what my conditions are about have a look here for multiple myeloma and here for AL amyloidosis. These conditions lie of something of a related spectrum of problems with the plasma (or ‘B’) cells which may generally be labelled as “plasma cell dyscrasia”.