Hi all,
I’ve recently been diagnosed with Myelodysplastic syndrome (MDS) (high-risk) and wondered if anyone had any insight about diagnosis in the presence of auto-immune conditions which cause pancytopenia in themselves.
I have had a low lupus complement for years, alongside some pancytopenia which was attributed to the lupus/Mixed Connective Tissue Disorder, and lupus in my family. I have had a few rounds of steroids and these have brought my low bloods up (I think - I also had 2 transfusions, not sure these would raise white blood cell and platelets too?). My hb was 66 in March with somewhat low white blood cell and platelets, and I was put on prednisolone and mycophenolate for this. I was given a BMB in May to try and be certain why my hb was so low, and they found mild dysplasia, 3% blasts and no hyper/hypocellurity.
My doctors have been wonderful, and very happy to look and confirmations etc. but I was curious for insights on certainty of diagnosis, especially since I have been recommended for an Stem cell transplant which is obviously a huge procedure. I have the following mutations: RUNX1, ASXL1, SRSF2, IKZF1 and also abnormal clone of Trisome 21. I have been recommended to come off prednisolone and mycophenolate as the haematologist says they have no impact on Myelodysplastic syndrome (MDS).
I guess my question is, if lupus can cause red blood dysplasia (as I found in various scientific articles) and pancytopenia, my pancytopenia responded to steroids (which they said didn’t happen in Myelodysplastic syndrome (MDS)), I have low blasts, no hyper/hypocellurity, and these genetic mutations can exist in healthy individuals, should I be worried that this is a misdiagnosis? Could I simply have lupus and the presence of these gene mutations? Sorry for the complex question.