Admitted to the internal medicine department in ______, diagnosed with “pancytopenia and myelodysplasia (currently in the process of being assigned a histological definition); arterial hypertension; obesity; and monolateral (left) multicystic kidney”.

Following further tests at the day hospital, without reaching any diagnostic certainty as to the pancytopenia (WT-1 gene analysis repeatedly negative; hypo cellular haemopoietic bone marrow with regular trilinear maturation); regular (every 4 days) need for transfusion support for red blood cells and platelets.

In order to obtain a better clinical assessment of the case, initial values are provided, to allow for comparison with a more recent patient hemochrome:

RESULTS Interval of reference

At ____ red blood cells 2460000 x mmc(4000000–5600000 L)

haemoglobin 8.8 G/DL 12.0 16.0

Hematocrit 26.7% 36 48

MCV 108.5 fl 81.0 98.0

MCH 35.7 pg 27.0 33.0

MCHC 32.9 G/DL 31.5 36.0

RDW-SD 63.5 fl 37.0 54.0

RDW-CV 16.30 11.88 14.32

PLATELETS 25000 x mmc (140000-440000)

MPV 11.1 fl 9.0 14.0

PDW 12.3 fl 9.0 17.0

P-LCR 32.7 % 13.0 43.0

LEUKOCYTES 3370 x mmc 4000 10000

NEUTROPHILS 1310 x mmc 1600 7400

LYMPHOCYTES 1779 x mmc 760 4800

MONOCYTES 279 x mmc 80 1100

EOSINOPHILS 0 x mmc 8 700

BASOPHILES 0 x mmc 0 150

7 months later red blood cells 2630000 x mmc(4000000–5600000 L)

haemoglobin 7.9 G/DL 12.0 16.0

Hematocrit 23.8% 36 48

MCV 90.4 fl 81.0 98.0

MCH 30.0 pg 27.0 33.0

MCHC 33.1 G/DL 31.5 36.0

RDW-SD 49.8 fl 37.0 54.0

RDW-CV 16.60 11.88 14.32

PLATELETS 36000 x mmc (140000-440000)

MPV 11.0 fl 9.0 14.0

PDW 13.1 fl 9.0 17.0

P-LCR 33.6 % 13.0 43.0

LEUKOCYTES 2070 x mmc 4000 10000

NEUTROPHILS 728 x mmc 1600 7400

LYMPHOCYTES 1250 x mmc 760 4800

MONOCYTES 80 x mmc 80 1100

EOSINOPHILS 10 x mmc 8 700

BASOPHILES 0 x mmc 0 150

In addition:

The report made following bone marrow needle aspiration of ________:

“The lymphocytes and monocytes show no phenotypical abnormalities. Blastic levels are within normal limits. The myeloid population would appear to show a slight maturative unbalance with a reduction of the most differentiated component. The erythroblast levels would appear to basically fall within normal limits”.

Erithropoietin (on ________) 493 mUI/mL.

Last admitted to the department of internal medicine at the hospital of _____ from ______ to ______, because following a check-up at the day hospital, severe anaemia and thrombocytopenia was reported, with tarry stools in the ampulla of the rectum.

Diagnosis upon discharge was:

- pancytopenia of uncertain pathogenesis;

- Erythematosus gastritis;

- Arterial hypertension;

- Obesity;

- Monolateral (left) multicystic kidney.

During the hospital stay:

1. emergency transfusions of concentrated red blood cells and platelets carried out

2. esophagogastroduodenoscopy performed, reporting erythematosus gastritis without haemorrhaging.

3. improvement of the patient’s condition, and with no further haemorrhaging; repeated blood transfusions.

4. transfusion of platelet concentrates on ________ and GRF 2 units today.

5. immunosuppressant treatment started with cyclosporine, in view of a hypothesised autoimmune pathogenesis of pancytopenia.

Advised home treatment:

Sandimmun 100 mg 1 tablet twice a day

Pantorc 20 mg 1 tablet to be taken in the morning.

 

Questions:

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?

Second MEDICAL OPINION Report

Medical documents regarding this patient have been forwarded to me for a consult.

It should be emphasized that not only I have not seen, talked or examined the patient, many important documents and very relevant information is still missing (see later).

Nevertheless, from the documents I have seen, I understand that this 74 year old woman 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.

Evaluation:

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
• Bone marrow report
• 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: An attempt to establish a definite diagnosis.

Dr. _______________

Associate Professor of Medicine

Internist & Hematologist