Myelodysplastic Syndrome: Or something else? Differential Diagnosis

Blood, blood-forming organs-immune system (D50-D90).

  • Aplastic anemia – form of anemia (anemia) characterized by pancytopenia (reduction of all cell series in the blood; stem cell disease) and concomitant hypoplasia (functional impairment) of the bone marrow.
  • Acquired isolated aplastic anemia (“pure-red-cell-aplasia”) – special form of aplastic anemia: only the number of erythrocytes is decreased.
  • Hypersplenia syndrome – hyperfunction of the spleen associated with a lack of blood cells and bone marrow proliferation.
  • Immune thrombocytopenia (idiopathic thrombocytopenic purpura (ITP); synonyms: Immune thrombocytopenia; purpura haemorrhagica; thrombocytopenic purpura; autoimmune thrombocytopenia; immune thrombocytopenic purpura; primarily affects children).
  • Bone marrow damage, nutritive-toxic – due to alcohol, lead, nonsteroidal anti-inflammatory drugs (NSAIDs).
  • Congenital (congenital) dyserythropoietic anemias.
  • Megaloblastic anemia (deficiency of vitamin B12 or folic acid).
  • Monocytosis of other genesis (cause).
  • Paroxysmal nocturnal hemoglobinuria (PNH) – acquired disease of the hematopoietic stem cell caused by a mutation of the phosphatidyl inositol glycan (PIG) A gene; characterized by hemolytic anemia (anemia due to decay of red blood cells), thrombophilia (tendency to thrombosis) and pancytopenia, ie. i.e. a deficiency in all three cell series (tricytopenia) of hematopoiesis, i.e. a leukocytopenia (reduction of white blood cells), anemia and thrombocytopenia (reduction of platelets), is characterized.
  • Reactive bone marrow changes – due to sepsis (blood poisoning), chronic infections, AIDS.

Endocrine, nutritional and metabolic diseases (E00-E90).

Infectious and parasitic diseases (A00-B99).

  • HIV/AIDS (→ reactive bone marrow lesions).
  • Sepsis (→ reactive bone marrow changes).
  • Viral infections (HIV, parvovirus B19, and others) (→ reactive bone marrow changes).

Neoplasms – tumor diseases (C00-D48).

  • Acute leukemias – specifically erythroleukemia, FAB-M6.
  • Chronic myelomonocytic leukemia (CMML) of other genesis.
  • Hairy cell leukemia – chronic lymphoproliferative disease from the group of non-Hodgkin’s lymphomas.
  • Clonal hematopoiesis of indeterminate potential (CHIP); prevalence (disease incidence) increases with age and is circa 10% in the 8th decade; risk of progression (“progressing”) to hematologic neoplasia 0.5-1% per year; CHIP is defined by:
    • The detection of clonal hematopoiesis (somatic mutation); i.e., detection of a somatic mutation associated with hematologic neoplasia and having an allele frequency of at least 2%.
    • The absence of dysplasia of hematopoiesis in the bone marrow.
    • The absence of blast proliferation in the bone marrow

    Cytopenias in the peripheral blood may or may not be present. Must be excluded:

    • Paroxysmal nocturnal hemoglobinuria (PNH; see above).
    • Monoclonal gammopathy of uncertain significance (MGUS) – precancerous condition for lymphoproliferative disorders such as multiple myeloma or Waldenström’s disease; paraproteinemia with monoclonal IgM globulins without histologic infiltration of the bone marrow with plasma cells or lymphoma cells (i.e., no plasmacytoma/multiple myeloma or Waldenström’s disease); in the United States, monoclonal gammopathy of unclear significance (MGUS) is found in 3.2% of those over 50 years of age and 5.3% of those over 70 years of age; progresses to lymphoproliferative disease in 1.5% of cases per yearNote: MGUS may persist for more than 30 years before clinical disease develops; in these patients, an additional jag, the “M gradient,” can be seen in the gamma globulin region. This indicates the spread of cell clones in the bone marrow.
    • Monoclonal B lymphocytosis (MBL).
  • Myeloproliferative disorders – chronic myeloid leukemia (CML), osteomyelofibrosis (OMF; myeloproliferative syndrome).

Medications

  • Immunosuppressants
  • Non-steroidal anti-inflammatory drug (NSAID)
  • Cytostatic drugs

Further