3 - pancytopenia

Question 1

what is pancytopenia?

Answer 1

deficiency of all cells

Question 2

what are the causes of pancytopenia?

Answer 2

reduced production
1. acquired, can be primary (aplastic anaemia, myelodysplastic syndrome, acute leukaemia) or secondary (drugs, B12/folate, infiltrative, HIV)
2. inherited like fanconi’s anaemia

increased destruction like hypersplenism

Question 3

what is fanconi’s anaemia? how does it present?

Answer 3

it’s an inherited syndrome that causes marrow failure due to DNA defects causing macrocytosis leading to thrombocytopenia & neutropenia

presents = short stature, skin pigmentation, hypogenitilia, problems with endocrine/GI/renal/haematological
characteristic skeletal abnormalities like 4 fingers and cafe au lait spots on skin

Question 4

what are the 3 causes of primary bone marrow failure? (basic description of each)

Answer 4

(primary failure means issue with haematopoietic stem itself)

1. idiopathic aplastic anaemia = autoimmune attack against stem cell
2. myelodysplastic syndrome (abnormal bone marrow cells making dysfunctional clones)
3. acute leukaemia = leukaemic stem cells make leukaemic cells & stops normal stem cells from making normal blood cells therefore dysfunctional bone marrow

Question 5

why is bone marrow seen as hypercellular marrow in myelodysplastic syndrome but still presents with pancytopenia?

Answer 5

because it has exaggerated cell death in bone marrow so bone marrow looks like loads of cells but none of them survive long enough to leave marrow

Question 6

what are causes of secondary bone marrow failure?

Answer 6

1. drug induced e.g. chemo, alcohol, azathioprine, methotrexate
2. B12 & folate deficiency (since nuclear maturation problem affects not just RBCs and but all blood cells)
3. infiltrative = cancer spread to bone marrow
4. HIV

Question 7

what is cause of pancytopenia where due to increased destruction of all cells?

Answer 7

hypersplenism = cells trapped in spleen, spleen destroys too much cells

Question 8

what causes hypersplenism?

Answer 8

splenomegaly causes hypersplenism - so think of things that make spleen enlarged

1. splenic congestion e.g. portal hypertension
2. systemic disease e.g. rheumatoid arthritis
3. haematological diseases e.g. splenic lymphoma

Question 9

what is the clinical presentation of pancytopenia? (break it down to 3 areas)

Answer 9

pancytopenia = anaemia + neutropenia + thrombocytopenia

anaemia = fatigue, shortness of breath, CV compromise

neutropenia = infections (neutropenia at risk of gram -ve sepsis)

thrombocytopenia = purpura, petechiae, bleeding

Question 10

what are the 3 examples of when hypercellular marrow and pancytopenia? (briefly explain how they present with both)

Answer 10

• myelodysplastic syndrome
• B12/folate deficiency
  = both of these are due to cells being dysfunctional and not surviving long enough to get out marrow (so still low in rest of body)
• hypersplenism (cells are destroyed quicker than they’re being made)

Question 11

what is treatment of aplastic anaemia?

Answer 11

it’s the one where autoimmune attack of stem cells causing pancytopenia = treat either with stem cell transplant if young or by suppressing immune system with cyclosporin

Question 12

what can be supportive treatment of things for pancytopenia?

Answer 12

transfusions of things that are low e.g. RBC, neutrophils, platelets

= also antibiotics (if infection)

Question 13

what is treatment of hypersplenism?

Answer 13

treat cause if possible (e.g. lymphoma) or consider splenectomy

Question 14

what presents with macrocytic pancytopenia?

Answer 14

B12/folate deficiency = nuclear maturation affects RBC size and lifespan. also affects all cells