DOCTORS'
Medical Case Studies


74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.
1. What is the most likely diagnosis?
2. What further clinical tests or examinations would you suggest?
3. What treatment would you suggest?
4. What is the prognosis?
• Bilateral saphenectomy
• Haemorrhoidectomy
• Left meniscectomy
• Approximately 3 years ago, polypectomy during colonoscopy
• Osteoporosis and arthrosis
Expert's Opinion
The differential diagnosis of pancytopenia in a 74-year old woman is broad, but I will mention the more common and more likely possibilities:
-Myelodysplastic syndrome (MDS): The age, pancytopenia, the high MCV and some myelodysplasia in the marrow – all consistent with this diagnosis. However, this should be confirmed by bone marrow analysis by an expert, also with at least cytogenetic analysis.
-Liver disease with cirrhosis – this should be tested by blood tests (liver function tests, serology) ultrasound and sometimes liver biopsy (if indicated).
-Immune pancytopenia, whether primary hematological disease, or secondary to connective tissue disease / vasculitis or secondary to lymphatic disease.
-Other primary bone marrow diseases such as aplastic / hypoplastic anemia, PNH, myeloproliferative disease and others.
BM analysis and specific tests can help.
-Megaloblastic anemia– B12 and / or folic acid deficiency.
-Drug induced or viral induced (B19, EBV, CMV) BM suppression.
Missing information / Documents:
History – symptoms, clinical picture.
Routine blood tests – especially chemistry.
Anemia work up.
GI work up.
Specific tests – see above.
Once definite diagnosis is established, treatment can be discussed. For instance, if MDS is the problem, than several options can be considered:
Supportive treatment (RBC transfusions); Erythropoietin injections; Immune suppression (Globulins / ATG, cyclosporine); Thalidomide;Lenalidomide; Chemotherapy; Decitabine; 5-aza-cytabine – just to name a few options.
If the problem is immune – immune suppression can be the preferred approach
If the liver is the problem, than another approach should be considerd.
Final recommendation: attempt to establish a definite diagnosis.