Haematology

Question 1

In which diseases is serum or urine protein electrophoresis indicated?

Answer 1

• Multiple myeloma
• Plasma cell leukaemia
• B-cell lymphoma (Waldenström’s macroglobulinaemia)
• Plasmacytoma
• Amyloidosis

Question 2

What is the mnemonic CRABBI and what disease is it used for?

Answer 2

Multiple myeloma

C = calcium: hypercalcaemia = constipation, nausea, anorexia, confusion

R = renal: light chain deposits within renal tubules = renal impairment = dehydration and increased thirst

A = anaemia

B = bleeding: thrombocytopaenia = increased risk of bleeding and bruising

B = bones: increased osteoclast activity creates bone lesions = bone pain (especially in the back) and increased risk of fractures

I = infection: reduced immune system due to reduction in production of normal immunoglobulins

Question 3

What is the first-line treatment for transplant candidates in newly diagnosed multiple myeloma?

Answer 3

Induction therapy = chemo and steroids e.g. thalidomide/lenalidomide and dexamethasone

Question 4

What is the first-line treatment for patients with newly diagnosed multiple myeloma that are not transplant candidates?

Answer 4

Chemotherapy and steroids e.g. melphalan and thalidomide and prednisolone

Question 5

What is antiphospholipid syndrome?

Answer 5

The association of persistently elevated antiphospholipid antibodies with a variety of clinical features characterised by thromboses and pregnancy-related morbidity

Question 6

What condition is strongly associated with antiphospholipid syndrome?

Answer 6

SLE

Question 7

What is the most common inherited thrombophilia?

Answer 7

Factor V Leiden

Question 8

What is the pathophysiology behind Factor V Leiden?

Answer 8

There is a gain-of-function mutation in the Factor V Leiden protein which causes it to be inactivated 10 times slower by activated protein C than normal increasing the risk of thrombosis

Question 9

What is the cause of haemophilia A?

Answer 9

A deficiency of clotting factor VIII

Question 10

What is the cause of haemophilia B?

Answer 10

A deficiency of clotting factor IX

Question 11

Why is haemophilia almost exclusively male in epidemiology?

Answer 11

Because it is inherited with an X-linked recessive pattern

Question 12

What is the hallmark sign of haemophilia?

Answer 12

Musculoskeletal bleeding

Question 13

What does musculoskeletal bleeding present as?

Answer 13

• Pain
• Swelling
• Decreased range of motion
• Erythema
• Increased local warmth

Question 14

What is immune thrombocytopaenia purpura?

Answer 14

An autoimmune haematological disorder characterised by isolated thrombocytopaenia in the absence of an identifiable cause

Question 15

What investigation is used to confirm immune thrombocytopaenia purpura?

Answer 15

Peripheral blood smear

Question 16

What platelet count is seen in patients with immune thrombocytopaenia purpura?

Answer 16

< 100 x 10^9 /L

Question 17

What do you give a patient with immune thrombocytopaenia purpura with a platelet count <30 x 10^9 /L and/or bleeding symptoms?

Answer 17

• Corticosteroid
• IV human immunoglobulin
• Anti-D (Rh-+ve)

Question 18

What is the most common inherited bleeding disorder?

Answer 18

Von Willebrand disease

Question 19

What is haemolytic anaemia?

Answer 19

The umbrella term for a number of conditions that cause premature destruction of red blood cells.

Question 20

What are the common signs and symptoms of haemolytic anaemia?

Answer 20

• Pallor
• Fatigue
• Jaundice
• Dyspnoea
• Splenomegaly

Question 21

What is ‘warm’ autoimmune haemolytic anaemia?

Answer 21

Haemolysis of RBCs caused by IgG which happens best at room temperature and at extravascular sites such as the spleen

Question 22

What is ‘cold’ autoimmune haemolytic anaemia?

Answer 22

Haemolysis of RBCs caused by IgM which happens best at 4 degrees C. Haemolysis is mediated by complement and happens intravascularly (Raynaud’s)

Question 23

The presence of what in a peripheral blood smear indicates haemolytic anaemia?

Answer 23

• Blister or bite cells

- Heinz bodies (denatured haemoglobin)

Question 24

Increased incidence of what condition is linked to glucose-6-phosphate dehydrogenase deficiency?

Answer 24

Cataracts

Question 25

What are the key histopathological features of hereditary spherocytosis?

Answer 25

Presence of spherocytes on blood smear in association with negative direct anti-globulin test and an elevated reticulocyte count

Question 26

What is hereditary spherocytosis?

Answer 26

An inherited abnormality of the red blood cells caused by defects in structural membrane proteins. The normal biconcave disc shape is replaced by a sphere-shaped RBC

Question 27

What are the key diagnostic factors for hereditary spherocytosis?

Answer 27

• Pallor
• Jaundice
• Splenomegaly
• Fatigue

Question 28

What are the key differences between hereditary spherocytosis and glucose-6-phosphate dehydrogenase deficiency?

Answer 28

G6PD deficiency = male, African and Mediterranean ethnicities, Heinz bodies + blister cells on film

Hereditary spherocytosis = male and female, Northern European ethnicities, splenomegaly, spherocytes on film

Question 29

What is the cause of sickle cell anaemia?

Answer 29

An autosomal recessive single gene defect in the beta chain of haemoglobin

Question 30

What is used as prophylaxis of sickle cell? How does it work?

Answer 30

Hydroxyurea

Increases HbF levels

Question 31

What is thalassemia?

Answer 31

An inherited microcytic anaemia caused by mutation(s) or the alpha- or beta-globulin gene

Question 32

What is a typical carboxyhaemoglobin level for smokers?

Answer 32

5-10%

Question 33

What carboxyhaemoglobin level indicates carbon monoxide poisoning?

Answer 33

Elevated above patient baseline

> 50% = acute

Question 34

What does a positive anticardiolipin antibody test indicate?

Answer 34

Antiphospholipid syndrome