Clinical Haematology

Question 1

What is Pancytopenia?

Answer 1

Condition characterised by a decrease in all three blood cell types : RBCs, WBCs, Platelets

Patients may present with symptoms related to anaemia, bleeding or infections

Question 2

What are the potential causes of Pancytopenia?

Answer 2

• Most common underlying causes of pancytopenia are bone marrow disorders such as aplastic anaemia or myelodysplastic syndrome
• Medications, such as chemo or immunosuppressants
• Drug interaction between azathioprine and allopurinol can cause bone marrow suppression
• Nutritional deficiencies such as B12 or Folate
• Autoimmune disorders, such as SLE or RA

Question 3

H&E of Pancytopenia

Answer 3

Symptoms of Anaemia
- Fatigue
- Weakness
- Pallor
- SOB

Symptoms of low platelets + WBCs
- Easy bruising
- Bleeding gums
- Frequent infections

Exam may reveal pallor, petechiae or purpura

Question 4

Investigations for Pancytopenia

Answer 4

FBC is first-line and will reveal low levels of all blood cell types

Bone marrow biopsy may be necessary to determine underlying cause

Question 5

Management of Pancytopenia

Answer 5

• Treat underlying cause
• In cases of severe pancytopenia, blood transfusions and/or bone marrow transplant may be needed
• Referral to specialist for further evaluation and management

Question 6

What is Polycythaemia?

Answer 6

Condition where body produces too many RBCs
OR
There is a relative excess of RBCs

Question 7

What are the causes of Polycythaemia?

Answer 7

Primary: (Polycythaemia rubra vera)

Relative causes:
- dehydration
- stress (Gaisbock syndrome)

Secondary:
- COPD
- Altitude
- Obstructive sleep apnoea
- Excessive EPO (cerebellar haemangioma, hypernephroma, hepatoma, uterine fibroids)

Question 8

How can true and relative Polycythaemia be distinguished?

Answer 8

To differentiate between true (primary or secondary) polycythaemia and relative polycythaemia red cell mass studies are sometimes used. In true polycythaemia the total red cell mass in males > 35 ml/kg and in women > 32 ml/kg

• uterine fibroids may cause menorrhagia which in turn leads to blood loss - polycythaemia is rarely a clinical problem

Question 9

What is Polycythaemia rubra vera?

Answer 9

• Mutation in JAK2 gene
• Too many RBCs made by bone marrow

Question 10

H&E of Polycythaemia

Answer 10

• Itchiness (especially after warm bath)
• Burning/tingling in hands
• Blurry vision
• Headaches
• Plethoric - red nose
• Splenomegaly
• Thrombosis
• Gout

Question 11

Investigations of Polycythaemia

Answer 11

• Examine for DVT
• FBC
  
  • high Hb
  • Hct >0.52 in males and >0.48 in females is DIAGNOSTIC
• EPO levels (low in primary and high in EPO tumour)
• CXR, Renal scan
• Bone Marrow biopsy
• Gene panel for JAK2 Mutation

Question 12

Management of Polycythaemia

Answer 12

• First line - Venesection (maintain Hct <0.45)
• Aspirin
• Hydroxycarbamide if high risk of thrombosis
• JAK2 inhibitors
• Annual follow ups to check for signs of myelofibrosis