MDS diagnosis based on blood tests only, not bone marrow
 

Has anyone every heard of MDS based on pretty much the blood test results only and not the bone marrow? My husband and I found out last week from the oncologist that the bone marrow biopsy is kind of inconclusive. Guess it is finally now being sent to Mayo though I'm not sure that is the best place for this condition at least it's somewhere besides a small town in Missouri. My father in law was pretty coherent and aware of what was going on especially when he wanted to be. Now he has us completely puzzled.

I can tell you that from my first bone marrow biopsy, that the local oncologist/hemologist said that I didn't have a bone marrow problem. That I had a bleed which explained the low hemoglobin counts that required me to get transfusions. Thankfully my family doc nor I agreed with him and I was sent to a big cancer clinic. They did another BMB and I was given my dx of MDS.
If possible please get your FIL to a MDS Center of Excellence, they are the experts in this disease. I shudder to think of what my treatment and prognosis would have been had I continued to be the patient of the first oncologist/hemologist.

My mother was recently diagnosed with MDS. She has low red, white, and platelet counts. They performed two BMB, but did not find any evidence of MDS in her bone marrow that would cement the diagnosis. They have performed many other tests to rule out other problems that may cause her low blood count. We got a second opinion and through the process of elimination of other possible causes, could only diagnose her with MDS. She is currently being treated with Vidaza. She just completed her first cycle, but have not seen any progress yet.

John's first BMB wasn't conclusive either. We were pretty sure that it wasn't leukemia but he had to have another BMB. We went to Johns Hopkin to see Dr. Brodsky. He told us you need the BMB to get a final diagnosis in order to treat effectively.

John was diagnosed with SAA after they rule out all other possibilities like cancer, MDS, genetic anemia's, etc. So it is important to know what is going on in the BM. SAA is diagnosed by eliminating all other causes. From what I understand, MDS is not and there are multiple types/classes of MDS that need to understood by the docs.

There are others on this site with lots of knowledge on diagnosing MDS who will most likely post on this.

I urge you pursue a solid diagnosis before starting any treatment.

They diagnosed my MDS from periphrial blood tests. I've had two BMB and from what I've seen, that is the real test to tell you what is going on it there.

My husband Henry's diagnosis was by blood tests but the oncologist wanted to be sure and so a BM test was done and the diagnozis was definitely MDS. He has been doing well on the Vidaza treatments but this one last week really seemed to pull him down. He also had a cold and that along with the chemo has made him feel lousy. We go back tomorrow to see about getting more anitibotics for his "cold/lung congestion". His appetite has really dropped and he has lost 12 lbs. in the last month. We keep opitimistic and hope for the best. Henry's blood counts were good last week, but not as good as the week before. His platlet count was really up but WBC & RBC was down but not alarmingly so. We just keep hoping that the Vidaza will keep working.
I keep each of you in my prayers and keep up with your progress on this forum. God's blessings.

Hi,
I agree with Lynn. Find a Center of Excellence! When my first BMB results came back, my local hematologist said it was a problem with absorbtion of vitamin B12. After 6 long months of vitamin B12 injections that initially increased my platelet count and then did nothing, my husband asked that I to be referred to UCSF or Stanford. At my first appt. at Stanford my hemotologist was 99% sure of the diagnosis of MDS, but wanted the BMB samples retested by their own lab. Sure enough, he was right and my local hematologist still didn't believe it. There were four chromosome abnormalities found according to the initial report, including 5q-...hello!
I wish you the best!
Jill

MDS Center of Excellence
 

Getting a Mayo review of the bone marrow will be a good step. Mayo Clinic is an MDS Center of Excellence. Everything I've read over the last 3.5 years since MDS was suspected in my husband ... a bone marrow biopsy is necessary to make a diagnosis.

Sometimes a single BMB is inconclusive & only over time & looking at multiple biopsies along with what else is going on with the patient can an eventual diagnosis be made. If chomosomal abnormalities are present, a diagnosis can be made ... but if there are no chromosonal abnormalities pathologists & hematologists can not (& should not) assume MDS.

Read what you can to learn about MDS and other bone marrow failure diseases. Ask questions of your doctor. If the BMB review by an MDS center of excellence (such as Mayo) is inconclusive ... ask questions until you understand why it's inconclusive & understand what will be done to monitor further. You should expect additional bone marrow biopsies. Eventually a definite diagnosis will be able to be made (changes over time, additional symptoms, etc). Is someone going along with your father in law to help understand & ask questions? If that's not possible, can you work out being involved in the examination via a conference call?

I would also suggest your father in law be seen at an MDS Center of Excellence if possible. If one is not considered "in network" with his insurance, work with his local hematologist to get a referral. (Help him in advocating for himself).

In my husbands situation, since he had no chromosomal abnormalities in bone marrow biopsies, we waited a little over a year & after 3 BMB & went in person to Mayo. When dealing with rare diseases & inconclusive tests... it is beneficial to seek experts. It doesn't have to be Mayo Clinic ... just find an MDS center of excellence. (A side note, we have been very happy with my husbands experiences at Mayo during his MDS journey. Though Rochester, MN is a small Minnesota city, people from around the world come for diagnose & treatment of various conditions)