New RARS DX

[SJF]

Hi All,

I by no means a medical expert, so I hope this makes sense.

My father (59) has just been diagnosed with RARS (low IPSS score 0), but I'm keen on getting other opinions after reading.

He mentioned a few months ago when he was tired all of the time that he has hemochromatosis (been diagnosed years ago, but has had no problems). He is still currently fatigued and feels like he hasn't slept at all after a solid nights sleep. The Oncologist has referred him to a sleep specialist?!

During the diagnosis of RARS he had blood draws to reduce the iron levels and was advised not to drink for 3 months (he smokes heavily also). I assume this was to rule out other other diagnoses?

He had a BMB and the results confirmed he has high iron levels and abnormally shaped large RBC's with sideroblasts (don't have his bloods handy at the moment). Everything else is normal and relatively stable over several months of tests (WBC and platelets etc). The pathology report suggests that it's probably RARS, as confirmed by his Oncologist (who probably just read the report).

So far he has been put on vitamin B and folate tablets and told by the Oncologist to come back in 3 months for blood tests. So from my reading I guess this is the watch and wait stage of MDS?

What I'm not sure on is if the oncologist know's about his past hemochromatosis diagnosis. Dad assures me that his GP would have advised him...I'm not so sure. I'm also not sure if this affects what's been discovered in the BMB.

From what you all understand on here, could it be anything other than MDS? From what I can read it seems odd to have hemochromatosis that turn's into MDS?

Please let me know if you need any more information to help answer/comment.

Cheers,

Sam.

[Chirley]

Hi, has he had copper and zinc levels tested?


Regards

[SJF]

Thanks for the reply!

I'm not sure. I don't remember seeing them on the results. Would they have been captured in the normal blood tests or would need to be specified?

What do levels in copper and zinc indicate?

[Chirley]

Hi. Some hematologists do these tests routinely, others don't. They are specifically ordered separate to the CBC and biochemistry.

If the copper level is low it can cause BMB appearances similar or even identical to MDS particularly RARS. High zinc levels can cause low copper levels. Similarly low B12 can cause anaemia but I'm not sure about the sideroblasts with B12 deficiency.

My ringed sideroblasts were 78% when my low copper level was discovered. The last BMB I had, after copper infusions, the sideroblasts had dropped but were still well above normal.

Hope this helps.

Regards

[SJF]

I'll have to check his bloods to see if the copper and zinc levels are in there.

From what I can read the ringed sideroblasts are also symptoms of hemochromatosis...as are larger than normal RBC's...

Thanks for the reply

[gramous]

hi, ferritin too hight is normal in rars. that's due to sideroblast self:-(((... other cause of sideroblastic anemia is alcohol dependence.... this form is reversible, the other (acquired, not)....
have a good day

[SJF]

Thanks for the information.

I also have questions around transplants (stem cell and bone marrow). At what point are they considered? Are they only considered after disease progression because they're risky? Or are they suitable not long after diagnosis when you're still relatively healthy (RARS with a IPSS score of 0).

At 59, would dad be a suitable candidate? Possible that he could go into remission after a successful transplant?

Sam.

[gramous]

hello,

It is THE problem with MDS by "young people"... We have the same problem, my friend is 53 and have RARS-T, we are in watching and waiting mode ... the transplant is very risked and he has no symptom now.... What are your father's blood results? Does he have too hight ferritin level? For us, the transplant will be the last solution, not for a lower risk MDS... bot other people have perhaps an other advice ?:-)
Take care and sorry for my bad english.

[Neil Cuadra]

Originally Posted by SJF

I also have questions around transplants (stem cell and bone marrow). At what point are they considered? Are they only considered after disease progression because they're risky? Or are they suitable not long after diagnosis when you're still relatively healthy (RARS with a IPSS score of 0).

At 59, would dad be a suitable candidate? Possible that he could go into remission after a successful transplant?

Sam,

Wait-and-watch, supportive care (transfusions), and drug treatments including immunosuppressives and growth factors are almost always preferred treatment choices for lower-risk MDS, but every case is different so there's no reason not to let the possibility of a transplant be part of the discussion.

Unfortunately, the effectiveness of a transplant is highest when it's done sooner in a disease's progression, with the patient being as healthy as possible, but that has to be weighed against the inherent risks of a transplant. Yes it's possible that your father could achieve remission with a transplant, but it's also possible that he could respond well to less risky treatments. That's why other treatments, or little or no treatment for low-risk MDS, are usually the first line of attack.

Age 59 is within the usual transplant age range. Your father's overall health and the availability of a matched donor are factors as well.

Your father's hemochromatosis complicates the picture, since phlebotomy (blood draws) to reduce iron stores can worsen anemia and the associated symptoms. At some point other methods of chelation (iron reduction) may have to be considered. Hemochromatosis can be a threat to the liver, so that alone is a good reason to avoid or reduce alcohol consumption.

Don't be shy about talking to the doctors and asking any questions you have. It's their job not only to treat your father but to let him and his family help in understanding his condition and participating in treatment decisions.

[SJF]

Thanks for the reply Neil. That all makes good sense.

I have been to his specialist appointments so far, which have been informative. But I think I'm going to convince him that he need to get another opinion from another specialist who has experience with MDS.

He definitely doesn't drink as much as he used to but he still does. I don't think he understands the knock on effects.

Dad has high ferritin levels ~1000 and slightly low RBC's...his only symptoms are extreme fatigue (causing him to retire). Does anyone have any solutions to reduce fatigue?