Haematology Flashcards
1
Q
Pathophysiology of TTP
A
- dysfunctional vWF cleaving protease
- can’t break clumps of vWF into useful monomers
3 microvascular clots form - problem with primary haemostasis
2
Q
Presentation of TTP
A
- fatigue
- fever
- jaundice
- petechiae
- purpura
- neurological deficit
3
Q
Investigations for TTP
A
FBC
- raised WCC
- low Hb, platelets
blood smear → schistocytes
other → raised bilirubin, creatinine
normal clotting
4
Q
Treatment of TTP
A
- plasma exchange
- IV methylprednisolone
- monoclonal Abs
5
Q
Pathophysiology of ITP
A
- autoimmune
- IgG destruction of GpIIb/IIIa
- platelets cannot activate
- problem with primary haemostasis
6
Q
Presentation of ITP
A
same as TPP
7
Q
Investigations for ITP
A
- FBC → raised WCC, low Hb and platelets
- clotting normal
- blood smear normal
8
Q
Treatment of ITP
A
- steroids
- IV IgG
9
Q
What is haemophilia
A
A
- factor VIII deficiency (intrinsic)
- secondary haemostasis
- X linked recessive
B
- factor IX deficiency (intrinsic)
10
Q
Presentation of haemophilia
A
soft tissue bleeding pattern → into muscles, joints, haematoma formation
11
Q
Investigations for haemophilia
A
- APTT long
- PT may be normal
- genetic testing
- factor VIII/IX testing
12
Q
Treatment for haemophilia
A
- recombinant factor VIII or IX
- depends on type
13
Q
What is Von Willebrand’s disease?
A
- defect in quantity or quality of vWF
- many subtypes
- varied inheritance
- primary haemostasis disorder
14
Q
What is the most common type of Von Willebrand’s disease?
A
- type 1
- autosomal dominant
- quantitative disease
15
Q
Presentation of Von Willebrand’s disease
A
mucocutaneous bleeding
- epistaxis
- GI bleeds
- menorrhagia
- easy bruising
16
Q
Investigations for Von Willebrand’s disease
A
- plasma vWF
- APTT can be prolonged if FVIII low
17
Q
How does Von Willebrand’s disease cause factor VIII deficiency?
A
- vWF protects FVIII from liver protein C destruction
- FVIII deficiency occurs is vWF affected
18
Q
Treatment for Von Willebrand’s disease
A
- type 1 responds to desmopressin
- tranexamic acid → reduces acute bleeding
19
Q
What is G6PD?
A
- glucose-6-phosphate dehydrogenase
- role in pentose sugar metabolism
- protects RBCs from damage
20
Q
What is G6PD deficiency?
A
RBCs exposed to more oxidative stress → haemolysis
21
Q
Risk factors for G6PD deficiency
A
- X linked
- west africa, middle east, asia
22
Q
Presentation of G6PD deficiency
A
- haemolytic anaemia
- splenomegaly
23
Q
Investigations for G6PD deficiency
A
bloods
- anaemia
- increased LDH and reticulocytes → markers of haemolysis
blood smear → Heinz bodies
24
Q
Treatment for G6PD deficiency
A
- blood transfusion
- stop exacerbating drugs
25
What is antiphospholipid syndrome?
- type of inherited thrombophilia
- AP antibodies bind to cell surfaces
26
Risk factors for antiphospholipid syndrome
- SLE
- females
- diabetes
- HTN
- obesity
27
Presentation of antiphospholipid syndrome
- unexplained thrombosis
- recurrent miscarriage
- Livedo reticularis
CLOT
28
What is polycythaemia?
- high concentration of erythrocytes in the blood
- 2 types → absolute and relative
29
What is relative polycythaemia?
- normal number of erythrocytes
- reduction in plasma
causes
- obesity
- dehydration
- excessive alcohol
30
What is absolute polycythaemia?
- increased number of erythrocytes
- 2 types → primary and secondary
31
What is primary polycythaemia?
- abnormality in the bone marrow
- AKA polycythaemia vera
32
What is secondary polycythaemia?
- disease outside bone marrow causing overstimulation of bone marrow
causes
- COPD
- sleep apnoea
- PKD
- renal artery stenosis
- kidney cancer
33
Features of polycythaemia vera
- myeloproliferative neoplasm
- most people have JAK2 mutation
- affected bone marrow can also produce excessive platelets, WBCs
34
Presentation of polycythaemia vera
- headaches
- dizziness
- fatigue
- blurred vision
- red skin → hand, face, feet
- HTN
- itching esp after conact with warm water
- hepatosplenomegaly
35
Diagnosis of polycythaemia vera
- FBC → raised Hb, haematocrit, WCC, platelets
- genetic testing
- serum erythropoietin → decreased (raised/normal in other polycythaemias)
36
Management of polycythaemia vera
- venesection
- low dose aspirin daily
- hydroxycarbamide → if high risk of thrombus
37
What is pernicious anaemia?
- lack of intrinsic factor
- usually produced by parietal cells in stomach
- allows B12 absorption in terminal ileum
- low B12 = B12 deficiency macrocytic anaemia
38
What is malaria?
- parasitic infection Plasmodium
- spread by female mosquito
- most common in Africa
39
What are the species of Plasmodium?
- p.falciparum → most common
- p.vivax
- p.ovale
- p.malariae → least common
40
Signs and symptoms of malaria
non-specific symptoms
- fever, chills
- headache
- cough
- splenomegaly
severe disease in p.falciparum
- SOB
- fits and hypovolaemia
- AKI and nephrotic syndrome
41
Investigations for malaria
- travel history
- thick and thin blood smears → 3 over 48hrs
- rapid diagnostic tests → detect parasitic antigens
- PCR
- bloods
- chest xray
- lumbar puncture
42
Treatment for malaria
A
non-falciparum malaria
- chloroquine
falciparum malaria
- oral quinine sulphate
- IV quinine dihydrochloride for severe disease
do not treat those with G6PD deficiency
