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Symptomatic Pancytopenia- Additional opinion

Short summary

74-year-old male suffers from pancytopenia and symptomatic anemia. Bone marrow aspiration revealed some myelodysplasia, and the patient started immune therapy. He continues to require repeated blood transfusions. The expert recommends to complete the diagnostic workup. If no other disease is diagnosed than it can be assumed that the patient carries the diagnosis of MDS hypoplastic type. In this case, the therapeutic strategies include continuing the current RBC transfusion regimen, Immune suppressive treatment, and other therapeutic modalities such as erythropoietin injections, and oral thalidomide.


Patient's questions
The patient asks about the differential diagnosis of pancytopenia and the treatment options.
Medical Background
74 year old male gentleman has suffered over the six months from pancytopenia. The main problem has been the symptomatic (weakness ? chest pain ?) anemia (8-9 g/dL), which required blood transfusions (how many units ?).
His past medical history is remarkake for:
  • Vascular surgery (peripheral vascular disease ?)
  • Colon polypectomy
There is also a note in the records that bone marrow aspiration (?) revealed some myelodysplasia, no increased number of blasts and immune therapy has been prescribed.
Also, there is a note about possible GI bleeding.
Medical opinion
Additional information has been forwarded to me:
Unfortunately, still a lot of information is missing and most requested information is not available (at least to me) at the present time. See my previous note for more details.
Nevertheless, form the little information, I understand that the patient, a 75 year old gentleman, continues to require repeated blood transfusions (2 per a week ?).
I have reviewed the bone marrow report and I still think that information is missing (maturation ? morphology of the three lineages ? number of the cells of each hematopoietic lineage ?). However, the most striking findings in the bone marrow, as reported, the hypocellularity (20%), the lack of increased number of blasts, and the absence of ringed sideroblasts – do not support the diagnosis of "classical" MDS. The normal cytogenetics (assuming the technique is OK and I got the report well) is also consistent with that assumption.
However, hypoplastic / myelodysplastic anemia (MDS – hypoplastic – hypocellular variant) is still very likely, which is an overlapping entity with aplastic anemia.
Another complex diagnostic possibility in a patient with hypocellular marrow is paroxysmal nocturnal hemoglobinuria (PNH).
In any case, one has to exclude the other possibilities mentioned earlier (see my report of February) prior to establishing the definite diagnosis and concluding the therapeutic strategy. For example, it is extremely important to exclude hemolysis (evidence of blood self destruction) which can be immune or non-immune.
  • Complete the diagnostic workup. Especially important is to
    • Follow my previous note
    • Exclude hemolysis (haptoglobin, reticulocyte count, coombs tests)
    • Complete the routine (other CBC parameters, routine chemistry including electrolytes, kidney function tests, liver function), etc
    • Complete workup for anemia: iron, transferrin, ferritin, B12, folic acid,
    • Exclude collagen vascular disease: ANF, complement, beta-2-glycoprotein, ANCA
    • Exclude PNH: CD 56/ CD 59 (in the serum, blood)
  • If indeed, all this workup is completed, and no other disease is diagnosed (see above), then we will have to assume that the patient apparently carries the diagnosis of MDS hypoplastic type.
  • If indeed, this is the case, the therapeutic strategies that can be discussed with the patients include:
    • Continuing the current RBC transfusion regimen – as needed. Considering the age (what is the general condition ?) many experts in the world continue to see it as the gold standard approach.
    • Immune suppressive treatment: there are several possibilities and some protocols, from oral corticosteroids only, followed by oral cyclophosphamide, oral cyclosporine and finally intravenous anti-thymocyte globulin (ATG), with or without the other immunosuppressive agents. Obviously, ATG is the most effective (up to 50% remission for a long time with the patient becomes transfusion-free), but also the most toxic (nephrotoxic, hepatotoxic, cardiovascular). Also, if it works it may take 4-6 months and sometimes up to 12 months (!) before we benefit from the medication.
  • Other therapeutic modalities in MDS can be considered too, such as erythropoietin injections, and oral thalidomide.
  • Patients who receive multiple transfusions; usually develop iron accumulation and may suffer from some complications related to the iron overload. To minimize that risk, it is recommended for patients who have received more than 25-50 blood units, or their serum ferritin level has exceeded the 1000 threshold, to start iron chelating agents. The classical is Desferrioxamine (Desferal), which has to be taken in a pump with continuous intradermal (into the skin) infusion or to be injected (less effective). The novel agent Deferasirox (Exjade) is oral, effective and convenient but more expensive. One has to make sure that no kidney or liver function abnormalities exist.