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Haematology conditions Flashcards

1
Q

What is aplastic anaemia?

A

Rare stem cell disorder characterised by diminished haematopoietic precursors in the bone marrow and deficiency of all blood cell elements (Pancytopenia)
Leads to pancytopenia and hypoplastic marrow (Marrow stops making cells)

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2
Q

What causes aplastic anaemia?

A

Most are AI triggered by drugs, viral infection or irradiation
>40% idiopathic
Acquired (Drugs, chemicals, radiation, viral infection, paroxysmal nocturnal haemoglobinuria)
Inherited (Fanconi’s anaemia, dyskeratosis congenita)

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3
Q

What are the symptoms of aplastic anaemia?

A

Slow-onset (months) or Rapid-onset (Days)
Anaemia symptoms
Thrombocytopenia (Easy bruising, bleeding gums, epistaxis)
Leukopenia (increased frequency and severity of infections)

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4
Q

What are the signs for aplastic anaemia?

A 
Pallor
Petechiae
Bruises
Multiple infections
No Organomegaly
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5
Q

What investigations are done for aplastic anaemia?

A

FBC (Low Hb, Low platelets, Low WCC, Normal MCV, Low/absent reticulocytes)
Blood film (exclude leukaemia)
Bone marrow trephine biopsy
Fanconi’s anaemia (Check for presence of increased chromosomal breakage in lymphocytes cultures in the presence of DNA cross-linking agents)

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6
Q

What is Haemolytic anaemia?

A

Premature erythrocyte breakdown caused by shortened erythrocyte life span (<120 days) with anaemia.
Occurs in circulation to damaged RBCs or in the reticuloendothelial system

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7
Q

What causes Haemolytic anaemia?

A 
Hereditary sepherocytosis
Hereditary elliptocytes
G6PD deficiency
Pyruvate kinase deficiency
Sickle cell disease
Thalassemia
AIHA
Isoimmune
Drugs (Penicillin, Quinine)
Trauma (MAHA)
Malaria
Sepsis
Marchiafava-Micheli disease
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8
Q

What are the symptoms of Haemolytic anaemia?

A 
Jaundice
Heamaturia
Dark Urine
Anaemia
Can often be asymptomatic
Family history
Race
Recent travel
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9
Q

What are the signs of haemolytic anaemia?

A

Pallor
Jaundice
Hepatosplenomegaly
Leg ulcers

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10
Q

Which investigations are needed for Haemolytic anaemia??

A
  • FBC (Low Hb, High reticulocytes, High MCV, High unconjugated bilirubin, low haptoglobin)
  • U&Es
  • Folate
    Blood film
    [May identify specific abnormal cells pointing to the diagnosis]
    Urine (Haemoglobin, Blood, high urobilinogen)
    Direct coomb’s test
    Osmotic fragility test / spectrin mutation analysis
    Ham’s test
    Hb electrophoresis or enzyme assays
    Bone marrow biopsy (Rare)
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11
Q

Which cells on the blood film points to diagnosis?

A

Hypochromic microcytic anaemia - thalassemia
Spherocytes - Hereditary spherocytosis or AIHA
Elliptocytes - Hereditary Elliptocytes
Sickle cells - Sickle cell anaemia
Schistocytes - MAHA
Malarial parasites
Heinz bodies (bite cells) - G6PD deficiency

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12
Q

What is Coomb’s test?

A

A test for AIHA, identifies erythrocytes coated with antibodies

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13
Q

What is Ham’s test?

A

Lysis or erythrocytes in acidified serum in paroxysmal nocturnal haemoglobinuria

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14
Q

What is Macrocytic anaemia?

A

Anaemia with Red blood cells that are larger than normal.
Usually results from abnormal haematopoiesis so that red cell precursors continue to synthesise haemoglobin and other cellular proteins but fail to divide normally

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15
Q

What causes macrocytic anaemia?

A

Oval macrocytes
Pernicious Anaemia
B12 deficiency
Folate deficiency
Drugs (Methotrexate, hydroxyurea, azathiopine, zidovudine)
Non megaloblastic causes (Alcohol excess, Myelodysplasia, multiple myeloma, hypothyroidism, aplastic anaemia, haemolysis, drugs, pregnancy)

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16
Q

What are the symptoms of macrocytic anaemia?

A 
Mild is asymptomatic
Shortness of breath
Fatigue
Palpitations
Exacerbation of angina
Looking pale
Family history of AI disease
Previous GI surgery
Symptoms of cause (weight loss, diarrhoea)
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17
Q

What are the signs of macrocytic anaemia?

A 
Pallor
Tachycardia
Breathlessness
Pernicious anaemia (mild jaundice, glossitis, angular somatitis, weight loss)
For B12 deficiency: 
- Peripheral neuropathy
- Ataxia
- Subacute combined degeneration of the spinal cord
- Optic atrophy
- Dementia
- Positive babinski's sign
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18
Q

What are the investigations for macrocytic anaemia?

A 
FBC
LFT
ESR
TFT
Serum B12
Red cell folate
Anti-parietal cell
Blood film
Schilling test
BM biopsy
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19
Q

What is the management of Pernicious anaemia?

A

No neurological deficits:
- IM hydroxycobalamin 3x/week for 2 weeks then 1mg/3 months
Neurological deficits:
- 1mg every other day until no further improvement then 1mg/2 months

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20
Q

What is the management of B12/Folate deficiency?

A

B12: Dietary supplements (PO cyanocobalamin)

Folate: Oral folic acid
If both B12 and folate, need to do B12 first

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21
Q

What are the complications of macrocytic anaemia?

A

Pernicious anaemia - Gastric cancer, subacute combined degeneration of spinal cord
Folate in pregnancy leads to increased risk of neural tube defects

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22
Q

What is Microcytic anaemia?

A

Anaemia assocaited with low MCV (<80fl)

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23
Q

What causes microcytic anaemia?

A

Iron deficiency (Blood loss, reduced absorption, increased demands, reduced intakes)
Anaemia of chronic disease
Sideroblastic anaemia
Thalassemia

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24
Q

What are the symptoms of microcytic anaemia?

A 
Tiredness
Lethargy
Malaise
Dyspnoea
Pallor
Palpitations
Exacerbation of ischaemic conditions
Lead poisoning
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25
Q

What are the signs of microcytic anaemia?

A 
Anaemia:
- Pallor
- Brittle nails and hair
- Kolionychia
- Glossitis
- Angular stomatitis
Lead poisoning signs:
- Blue gumline
- Peripheral nerve lesions
- Encephalopathy
- Convulsions
- Reduced consciousness
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26
Q

What investigations are done for microcytic anaemia?

A 
FBC (Low Hb, MCV; reticulocytes)
Iron studies
Serum Lead
CRP/ESR
Blood film
Haemoglobin electrophoresis
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27
Q

What is seen on blood film for causes of microcytic anaemia?

A 
IDA
- Microcytic
- Hypochromic
- Anisocytosis
- Poikilocytosis
Sideroblastic anaemia
- Dimorphic blood film
- Hypochromic microcytic cells
Lead poisoning
- Basophilic stippling
Sideroblastc anaemia
- Ring sideroblasts in bone marrow
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28
Q

Which special investigations are needed for Iron deficiency anaemia if >40 and post-menopausal women or males?

A

Upper GI endoscopy
Colonoscopy
Urine dip

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29
Q

What is the management for Iron deficiency anaemia?

A

Oral iron supplements (Ferrous fumarate)

IV iron if oral ineffective

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30
Q

What is the management for sideroblastic anaemia?

A

Treat cause
Pyroxidine in inherited forms
Blood transfusion and iron chelation

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31
Q

What is the management for lead poisoning?

A

Remove source

Dimercaprol or D-Penicillinamine

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32
Q

What are the complications of microcytic anaemia?

A

High-output cardiac failure

complications related to cause

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33
Q

What is normocytic anaemia?

A

Anaemia with a normal MCV (80-100)

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34
Q

What causes normocytic anaemia?

A 
Acute blood loss (peptic ulcer, oesophageal varices, trauma)
Failure of RBC production
Heamolysis 
Uncompensated increase in plasma volume
Pooling in the spleen
Anaemia of chronic disease
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35
Q

What causes a failure of RBC production?

A 
Bone marrow failure or suppression
Bone marrow infiltration
Renal failure
Vitamin B2/B6 deficiency
Hypothyroidism
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36
Q

What are the symptoms of RBC production?

A

Breathlessness
Fatigue
Conjunctival pallor

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37
Q

What are the signs of RBC production?

A

Conjunctival pallor

Angular stomatitis

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38
Q

What investigations are done for Normocytic anaemia?

A

FBC (check Hb and MCV)
Check ferritin for IDA
Check history for haemorrhage
If WCC low or platelets low, suspect marrow failure

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39
Q

What is Polycythaemia?

A

An increase in haemoglobin concentration above the upper limit of normal for a person’s age and sex

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40
Q

What are the 2 classes of Polycythaemia?

A

Relative polycythaemia

Absolute polycythaemia

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41
Q

What is the difference between relative polycythaemia and absolute polycythaemia?

A

Relative polycythaemia = Normal red cell mass but low plasma volume

Absolute polycythaemia = Increased red cell mass

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42
Q

What causes polycythaemia?

A 
Primary
- Polycythaemia rubra vera
Secondary 
- Appropriate increase in EPO
- Inappropriate increase in EPO
- Relative polycythaemia
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43
Q

What causes polycythaemia rubra vera?

A
  • Characterised by clonal proliferation of myeloid cells
  • Have varied morphological maturity and haematopoietic efficiency
  • Mutations in JAK2 tyrosine kinase are involved
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44
Q

What are the causes of increased EPO?

A 
Appropriate:
- Chronic hypoxia 
Inappropriate:
- Renal 
- Hepatocellular carcinoma
- Fibroids
- Cerebellar haemangioblastoma
- secondary polycythaemia due to EPO abuse
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45
Q

What are the causes of Relative polycythaemia?

A
  • May be acute - dehydration
  • Chronic from associated with obesity, hypertension, high alcohol and tobacco intake
  • Gaisbock’s syndrome
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46
Q

What are the risk factors for polycythaemia?

A 
Age 
Hypertension
Diabetes
Smoking
Alcohol
COPD
Altitude
Congenital heart disease
Cancer
Family history
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47
Q

What are the symptoms of polycythaemia?

A 
Headache
Dyspnoea
Tinnitus
Blurred vision
Pruritus after hot bath
Burning sensation in fingers and toes (erythromyalgia)
Night sweats
Thrombosis
Pain from peptic ulcer disease
Angina
Gout
Choreiform movements
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48
Q

What are the signs of polycythaemia?

A 
Plethoric complexion (red, ruddy)
Scratch marks from itching
Conjunctival suffusion (redness of the conjunctiva)
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49
Q

What are the investigations for polycythaemia?

A 
FBC (High Hb, High Hct, Low MCV)
Isotope dilution techniques
JAK2 mutation
EPO
Bone marrow trephine and biopsy
Secondary: High serum EPO, Exclude lung disease, Check for EPO-secreting tumours
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50
Q

What is sickle cell disease?

A

Autosomal recessive single gene defect in the beta chain of the haemoglobin, which results in production of sickle cell haemoglobin.
May occur if one HbS obtained from one parent or another bad haemoglobin e.g. Beta thalassaemia inherited from another patient

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51
Q

What causes sickle cell disease?

A

Sickling with RBCs containing sickle haemoglobin become rigid and distorted into a crescent shape
Valin replaes glutamic acid at 6th AA of beta globin chain

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52
Q

Which factors precipitate sickling?

A

Infeciton
Hypoxia
Acidosis
Dehydration

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53
Q

What are the risk factors for sickle cell disease?

A

Genetic

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54
Q

What are the symptoms of sickle cell disease?

A 
Autosplenectomy
Abdominal pain due to mesenteric ischaemia
Bone pain 
Avascular necrosis
Myalgia and arthralgia
Leg ulcers
Low flow priapism
CNS
Retina
Painful erection
Impotence
Breathlessness
Cough
Pain 
Fever
Symptoms of aplastic anaemia
Anaemia and infection
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55
Q

What are the signs of sickle cell disease?

A

Secondary to vaso-occlusion, ischaemia or infarction
- Bone - joint or muscle tenderness or swelling
- Short digits - infarction in small bones of hands
Retina - cotton wool spots due to retinal ischaemia
Organomegaly (spleen)
Priapism
Lethargy
Pallor

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56
Q

What are the investigations for sickle cell disease?

A

FBC
U&Es
Blood film (Sickle cells, anisocytosis, hyposplenism (target cells, howell jolly bodies))
Sickle solubility test (Dithionate - increase turbidity)
Hip X-ray (femoral head common site of avascular necrosis)
MRI/CT head (neuro complications)

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57
Q

What are the managements for acute sickle cell disease?

A 
Oxygen
IV fluids
Strong analgesia
Antibiotics
Antihistamine
Cross match blood
Transfusion if Hb/reticulocytes fall
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58
Q

What is the chronic management of sickle cell disease?

A 
Infection prophylaxis (penicillin V, vaccines - Pneumococcus, Haemophilus influenzae B)
Folic acid (severe or pregnant)
Hydroxyurea/hydroxycarbamide
Red cell transfusion
Stroke prevention
Advice
Surgical
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59
Q

What are the complications of sickle cell disease?

A 
Anaemia
Opioid dependence
Iron overload from chronic transfusion
Liver complications and cholelithiasis
Avascualr necrosis of hip or shoulder
Dactylitis
Leg ulcer
Cardiovascular malformations
Priapism
Splenic sequesteration
Pulmonary HTN
Renal abnormalities
Growth and developmental delay
Stroke and CNS disease
Proliferative retinopathy and retinal haemorrhages
Transient red cell aplasia
Malaria
Learning difficulties
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60
Q

What is Thalassaemia?

A

A group of genetic disorders characterised by reduced globin chain synthesis. Under or no production of globin chain.

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61
Q

What causes thalassaemia?

A

Autosomal recessive

Result in imbalance of globin chain production an deposition in erythroblasts and erythrocytes

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62
Q

What are the types of thalassaemia?

A

Alpha thalassaemia

Beta thalassaemia

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63
Q

What are the risk factors for thalassaemia?

A

Family history

Mediterranean origin

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64
Q

What are the symptoms of thalassaemia?

A 
Beta:
- Severe anaemia
- Present 3-6 months
Alpha/Beta:
- May be asymptomatic
- Detected during routine blood tests or due to family history
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65
Q

What are the signs of Thalassaemia?

A

Beta thallasemia major

  • Pallor
  • Malaise
  • Dyspnoea
  • Mild Jaundice
  • Extramedullary haematopoiesis (frontal bossing & hepatosplenomaegaly)
  • Thalassaemia facies (chipmunk-like cheeks, prominent forehead)
  • Hepatosplenomegaly
  • Osteopenia
  • Patients with Beta-thalassemia intermedia
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66
Q

What are the investigations for thalassaemia?

A 
FBC (Anaemia, microcytic, low MCH)
Blood film
- Hypochromic microcytic anaemia
- Target cells (alpha)
- Howell jolly bodies
- Nucleated red cells
- High reticulocyte count
Hb Electrophoresis (Absent or reduced HbA, high HbF)
Bone marrow (Hypercellular, erythroid hyperplasia)
Genetic testing
Skull X-ray
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67
Q

What is antiphospholipid syndrome?

A

Condition characterised by presence of antiphospholipid antibodies in the plasma, venous and arterial thromboses, recurrent foetal loss and thrombocytopenia

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68
Q

What causes antiphospholipid syndrome?

A

Occurs as a primary disease but 20-30% associated with SLE
APL directed against plasma proteins bound to anionic phospholipids
APL develop in susceptible individuals
Once APL present, a ‘second-hit’ needed to develop the syndrome

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69
Q

What are the risk factors for antiphospholipid syndrome?

A 
History of SLE
AI disorders (thyroid/coeliac/addison's)
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70
Q

What are the symptoms of antiphospholipid syndrome?

A 
Recurrent miscarriages
History of arterial thromboses (stroke)
History of venous thromboses (DVT, PE)
Headaches, Migraines
Chorea
Epilepsy
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71
Q

What are the signs of antiphospholipid syndrome?

A

Livedo reicularis
Signs of SLE - malar flush, discoid lesions, photosensitivity
Signs of valvular heart disease

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72
Q

What are the investigations for antiphospholipid syndrome?

A

FBC (Low platelets)
ESR (normal)
U&Es (APL nephropathy)
Clotting screen (High aPTT)
ALT ELISA (Positive) or lupus anticoagulant assays
Antibodies present (Lupus anticoagulant, anti-cardiolipin, antiphospholipid anti b2-microglobulin)

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73
Q

What is disseminated intravascular coagulation?

A

Disorder of clotting cascade that complicates a serious illness

74
Q

What are the forms of DIC?

A

Acute overt

Chronic non-overt

75
Q

What causes DIC?

A

Endothelial damage and the release of granulocyte/macrophage procoagulant substances lead to activation of coagulation
Leads to explosive thrombin generaltion, depleting clotting factors and plateletes, whilst also activating fibrinolytic system
This leads to bleeding in SC tissues, skins and mucous membranes
Occlusion of blood vessels by fibrin in microcirculation leads to MAHA and ischaemic organ damage

76
Q

What preceedes DIC?

A

Infection (Gram negative sepsis)
Obstetric complications (missed miscarriages, severe pre-eclampsia, placental abruption, amniotic emboli)
Malignancy (acute promyelocytic leukaemia [acute]; Lung, breast and GI malignancy [chronic])
Severe trauma or surgery

77
Q

What are the symptoms of DIC?

A

Severeuly unwell with symptoms of underlying disease
Confusion
Dyspnoea
Evidence of bleeding

78
Q

What are the signs of DIC?

A 
Underlying disease
Fever
Evidence of shock (Hypotension, tachycardia)
Acute DIC
- Petechiae, purpura, ecchymoses
- Epistaxis
- Mucosal bleeding
- Overt haemorrhage
- Signs of end organ damage
- Oliguria due to renal failure
Chronic DIC
- Signs of deep vein and arterial thrombosis or embolism
- Superficial venous thrombosis
79
Q

What investigations are done for DIC?

A 
FBC (Low platelets, Low Hb)
Clotting factors (High aPTT/PT)
D-dimer (High)
High fibrin degradation products, low fibrinogen
Peripheral blood film (schistocytes)
80
Q

What causes haemolytic uraemic syndrome?

A

Triad of symptoms occurring primary or secondary
Can be 2 main forms, or caused by TTP
- D+ - Diarrhoea associated
- D- - No prodromal illnesses

81
Q

What are the 3 symptoms of Haemolytic Uraemic Syndrome?

A
  • Microangiopathic haemolytic anaemia (MAHA) [IV haemolysis and RBC fragmentation]
  • Acute Renal failure
  • Thrombocytopenia
82
Q

What causes Haemolytic uraemic syndrome?

A

Infection (E.Coli, shigella, HIV)
Drugs (COCP, ciclosporin, mitomicin)
Familial genetics
Secondary causes: HTN, malignancy, pregnancy, SLE

83
Q

What causes D+ haemolytic uraemic syndrome?

A

Shiga like toxin from E. Coli taken up by immune cells and transported to nephron endothelium GP3 receptor where it is taken up.

84
Q

How does Haemolytic Uraemic syndrome cause renal fialure?

A

Take up of shiga like toxin at the nephron, causing apoptosis of endothelial cells, triggering haemostasis and so blood clots, forming renal failure

85
Q

What are the risk factors for Haemolytic uraemic syndrome?

A

Contaminated food/water
Community outbreak of toxogenic E.coli
Exposure to infected individuals
Genetic predisposition (dominant/recessive)

86
Q

What are the symptoms of Haemolytic uraemic syndrome?

A 
Severe abdominal colic and diarrhoea, often bloody
Malaise
Fatigue
Nausea
Oliguria
Haematuria
87
Q

What are the signs of Haemolytic uraemic syndrome?

A 
Pallor
Slight Jaundice
Bruising
Generalised oedema
Hypertension
Retinopathy
Abdominal tenderness
88
Q

What are the investigations for haemolytic uraemic syndrome?

A

FBC (Normocytic anaemia, low plateltes, high neutrophils)
U&Es (High urea, cretinine, potassium and low sodium)
Clotting (Normal aPTT and fibrinogen levels)
LFT (High bilirubin and LDH)
Haptoglobin (decreased)
Blood film (schistcytes, high reticulocytes and spherocytes)
Urine (proteinuria and haematuria)
ABG (Low pH, low bicarbonate, low PaCO2, normal anion gap)
Renal biopsy (distinguish D- or D+)
Stool culture/PCR (detect shiga toxin)

89
Q

What is Haemophilia?

A

Bleeding diathesis resulting from inherited deficiency of a clotting factor

90
Q

What are the subtypes of Haemophilia?

A 
Haemophilia A (Factor VIII)
Haemophilia B (Factor IX)
Haemophilia C (Factor XI)
91
Q

What causes haemophilia?

A

Haemophilia A and B are X-linked recessive
Haemophilia A due to flip tip inversion in factor VIII gene in X chromosome
Haemophilia B behaves clinically like Haemophilia A

92
Q

What are the risk factors for haemophilia?

A

Age > 60 years
Family history
Male
AI disorders (IBD/DMT1)

93
Q

What are the symptoms of Haemophillia?

A 
Begin in childhood, or after surgery/trauma
Haemarthroses
Haematomas
Haematuria
Excessive bruising/bleeding
Deep bleeding
94
Q

What are the signs of haemophilia?

A 
Multiple bruises
Muscle haematomas
Joint deformity
Nerve palsies
Signs of IDA
95
Q

What investigations are done for Haemophillia?

A

Clotting screen (High aPTT)
Coagulation factor assays
Other investigations may be performed if there are complications

96
Q

What is Immune thrombocytopenic purpura?

A

Immune destruction of platelets resulting in bruising or a bleeding tendency

97
Q

What causes immune thrombocytopenic purpura?

A

Autoantibodies are generated which bind to platelet proteins (GIpIIb/IIIA) causing thrmobocytopenia
Often idiopathic but seen acutely in children post-viral infection and chronically in adults

98
Q

What are potential causes of ITP?

A

Infection (malaria, EBV, HIV)
AI disorders (SLE, thyroid disease)
Malignancies
Drugs (Quinine)

99
Q

What are the risk factors for ITP?

A

Women

<10 or >65

100
Q

What are the symptoms for ITP?

A 
MEME
M - Mucosal bleeding
E - Easy bruising
M - Menorrhagia
E - Epistaxis
101
Q

What are the signs of ITP?

A

Visible petechiae and bruises

Signs of other illness (e.g infectons, wasting, splenomegaly) would suggest other causes

102
Q

What investigations are done for ITP?

A

Diagnosis of exclusion, exclude:

  • Myelodysplasia
  • Acute Leukemia
  • Marrow infiltration
103
Q

What is Thrombotic thrombocytopenia purpura?

A

Pentad of symptoms inclduing triad of HUS.

  • MAHA
  • Acute renal failure
  • Thrombocytopenia
  • Fever
  • Fluctuating CNS signs
104
Q

What causes TTP?

A

Deficiency of vWF cleaing enzymes leaves increased vWF multimers
Causes pathophysiological process as with HUS
Increased vWF multimers > clotting > fibrin deposition > microthrombi/damaged RBCs > Clogged up vessels > Fibroid necrosis > Renal failure

105
Q

What are the risk factors for TTP?

A 
Black ethnicitiy
Female
Obesity
Pregnancy
Cancer therapies
106
Q

What are the symptoms of TTP?

A 
GI: Severe abdominal colic and diarrhoea, often bloody
Malaise
Fatigue
Nausea
Oliguria
Haematuria
107
Q

What are the signs of TTP?

A 
Pallor
Slight jaundice (due to haemolysis)
Brusing
Generalised oedema
Hypertension
Retinopathy
Abdominal tenderness
Weakness
Reduced vision
Fits 
Reduced consciousness
108
Q

What are the investigations for TTP?

A

FBC (Normocytic anaemia, low platelets, high neutrophils)
U&Es (High urea, creatinine, potassium and low sodium)
Clotting (Normal aPTT and fibrinogen levels)

109
Q

What is Von Willebrand’s disease?

A

Bleeding disorder which may present with mucocutaneous bleeding (mouth, epistaxis, menorrhagia), increased bleeding after trauma and easy bruising

110
Q

What are the 3 common types of von Willebrand disease?

A

Type 1: Working vWF but not enough
Type 2: Normal levels but dont work
Type 2: No vWF

111
Q

What causes vWD?

A

Caused by abnormality in the expression/function of vWF

Usually autosomal dominant

112
Q

What are the risk factors for vWD?

A

Family history
Consanguineous relationships
Lymphoproliferative/myeloproliferative disorders

113
Q

What are the symptoms of vWD?

A 
Easy brusing
Epistaxis
Prolonged bleeding 
Menorrhagia
Haematochezia
Haematuria
Heavy bleeding
114
Q

What are the investigations for vWD?

A

Bleeding time - High
aPTT - High
Factor VIII/IX/XI - Low
vWF ag - Low in type 1 and 3, normal in type 2
Ristocetin cofactor - normal in type 2, abnormal in type 1 and 3

115
Q

What is ALL?

A

Malignancy of the bone marrow and blood characterised by proliferation of lymphoblasts (Primitive lymphoid cells)

116
Q

What causes ALL?

A

Lymphoblasts undergo malignancy transformation and proliferation
This leads to the replacement of normal marrow elements, leading to bone marrow failure and infiltration into other tissues

117
Q

What are the risk factors for ALL?

A

Age < 6, mid 30s, mid 80s
Environmental (Radiation, viruses)
Genetic (Down’s, Neurofibromatosis type 1, Fanconi’s anaemia, Xeroderma pigmentosa)

118
Q

What are the symptoms of ALL?

A 
Symptoms of bone marrow failure
- Anaemia (Fatigue, dyspnoea)
- Bleeding (Spontaneous bruising, bleeding gums, menorrhagia)
- Opportunistic infections
Symptoms of organ infiltration:
- Tender bones
- Enlarged lymph nodes
- Mediastinal compression
- Meningeal involvement (headache, visual disturbances, nausea)
119
Q

What are the investigations for ALL?

A 
FBC (Normocytic normochromic anaemia, low platelets, variable WCC)
Blood film (Abundant lymphoblasts)
Bone marrow aspirate or trephine biopsy (hypercellular with 20% lymphoblasts)
Immunophenotyping
Cytogenetic
Cytochemistry
LP
CXR
Bone radiographs
120
Q

What is AML?

A

Malignancy of primitive myeloid lineage white blood cells (myeloblasts) with proliferation in the bone marrow and blood.

121
Q

How is AML classified?

A

FAB (French-American- Britich) system into 8 morphological variants

122
Q

What causes AML?

A

Myeloblasts undergo malignant transformation and proliferation
Leads to replacement of normal marrow and bone marrow failure
Utility due to mutation of transcription factors

123
Q

What are the symptoms of AML?

A 
Bone marrow failure
- Anaemia (lethargy, dyspnoea)
- Bleeding (Thrombocytopenia or DIC)
- Opportunistic or recurrent infections
Tissue infiltration:
- Gum swelling or bleeding
- CNS involvements (headaches, nausea, diplopia)
124
Q

What are the signs of AML?

A 
Bone marrow failure:
- Pallor
- Cardiac flow murmur
- Ecchymosis
- Bleeding
- Opportunistic or recurrent infections (e.g. fever, mouth ulcers, skin infections)
Tissue infiltration:
- Hepatosplenomegaly
- Skin rashes
- Gum hypertrophy
- Deposit of Leukaemic blasts in the eye, tongue and bone (rare)
125
Q

What are the investigations of AML?

A

FBC (Low Hb, plateletes, variable WCC)
Blood film (myeloblasts, auer rods, bilobed nucleus)
BM aspirate / biopsy (Hypercellular with >20% blasts - diagnostic)
Immunotyping (Surface Antibodies - differentiate from ALL)
Cytogenetics

126
Q

What is CLL?

A

Progressive accumulation of functionally incompetent mature B cells, which are monoclonal in origin, which have escaped programmed cell death.

127
Q

What causes CLL?

A

Malignant cells may accumulate as a result of their inability to undergo apoptosis
The most common chromosomal changes include:
- Trisomy 12
- 11q and 13q deletions

128
Q

What are the risk factors for CLL?

A

Agent orange

129
Q

What are the symptoms of CLL?

A 
Asymptomatic
May be anaemic or infection-prone
Systemic symptoms (Lethargy, Malaise, night sweats)
Symptoms of BM failure:
- Recurrent infections
- Herpes zsoter infection
- Easy bruising or bleeding
If severe: Weight loss, sweats, anorexia
130
Q

What are the signs of CLL?

A 
Non-tender lymphadenopathy - enlarged, rubbery, non-tender
Hepatomegaly
Splenomegaly
Late stage signs of BM failure:
- Pallor
- Cardiac flow murmur
- Purpura/Ecchymosis
131
Q

What investigations are done for CLL?

A

CLL associated with AI phenomena e.g. Haemolytic anaemia (warm agglutinins) or thrombocytopenia
FBC (Lymphocytosis, low Hb, Low platelets, Serum Ig)
Blood film
- small lymphocytes with rims of cytoplasm
- smudge cells
Bone marrow aspirate or biopsy
- Lymphocytic replacement of normal marrow
Cytogenetics

132
Q

What is CML?

A

Malignant clonal disease characterised by uncontrolled proliferation of myeloid cells in the bone marrow and blood, distinguished from AML by its slower progression
- Myeloproliferative disorder

133
Q

What causes CML?

A 
Malignant proliferation of stem cells
95% have a philadelphia chromosome  (BCRABL)
Variations of CML include:
- Ph-negative CML
- Chronic neutrophilic leukaemia
- Eosinophilic leukaemia
134
Q

What are the phases of CML?

A
  1. Relatively stable chronic phase (4-6yr duration)
  2. Accelerated phase (3-9 months)
  3. Acute Leukaemia phase - blast transformation
135
Q

What are the risk factors for CML?

A

65-74
Ionising radiation
Benzene

136
Q

What are the symptoms of CML?

A 
Asymptomatic 
Hypermetabolic symptoms:
- Weight loss
- Malaise
- Sweating
Bone marrow failure:
- Lethargy
- Dyspnoea
- Easy bruising
- Epistaxis
- Abdominal discomfort and early satiety (splenic enlargement)
- Rare symptoms (Gout &amp; Hyperviscosity symptoms [visual disturbances, headaches, priapism])

May present during a blast crisis with symptoms of AML and ALL

137
Q

What are the signs of CML?

A 
Splenomegaly
Hepatomegaly
Signs of bone marrow failure:
- Pallor
- Bleeding
- Ecchymosis
138
Q

What are the investigations for CML?

A 
FBC:
- High uric acid
- Low haemoglobin
- High B12 and transcobalamin I
- Low neutrophil ALP score
- High WCC with whole spectrum of myeloid cells
Blood film (immature granulocytes)
Bone marrow aspirate/biopsy (Hypercellular with raised myeloid-erythroid ratio)
Cytogenetics (Phliadelphia chromosome)
139
Q

What is Hodgkin’s lymphoma?

A

A condition caused by malignant proliferation of lymphocytes, originating in the lymph nodes or other lymphoid tissues.

140
Q

What causes Hodgkin’s lymphoma?

A

Unknown
Likely to be environmental trigger in a genetically susceptible individual
EBV genome detected in 50% of hodgkin’s lymphoma

141
Q

What are the risk factors for hodgkin’s lymphoma?

A 
Affeted sibling
EBV
SLE
Post-transplantation
Westernisation
Obese
142
Q

What are the symptoms of hodgkin’s lymphoma?

A

Painless enlarging mass (enlarged, painless, non-tender, rubbery, superficial)
- Most commonly found in neck
- Can be axilla or groin
Mass may become painful after alcohol
Mediastinal lymph node involvement can cause mass effect
B symptoms
Other symptoms: Pruritis, Cough, Dyspnoea

143
Q

What are the B symptoms of Lymphoma?

A

Fever >38 degrees
Night sweats
Weight loss (>10% body weight in past 6 months)

144
Q

What are the signs of Hodgkin’s lymphoma?

A

Non-tender firm rubbery lymphadenopathy (Cervical, axillary or inguinal)
Splenomegaly (rarely hepatosplenomegaly)
Cachexia
Anaemia
Skin excoriations
Signs of intrathoracic disease (e.g. pleural effusion, SVC obstruction)
Signs of intrathoracic disease (pleural effusions, SVC obstruction)

145
Q

What investigations are done for Hodgkin’s lymphoma?

A 
FBC (anaemia, thrombocytopenia, neutropenia)
CRP/ESR (Raised)
LDH (Raised)
U&amp;Es (Hypercalcaemia)
HIV, HBV and HCV serology
Blood film (lymphoma cells)
Bone marrow aspiration and biopsy
Imaging (CXR, CT, PET)
Lymph node biopsy
Staging (Ann-Arbor)
146
Q

What is Non-hodgkin’s lymphoma?

A

Malignancies of lymphoid cells originating in lymph nodes or other lymphoid tissue.

147
Q

What are the 2 types of Non-hodgkin’s lymphoma?

A

B-cell (90%)

T-cell

148
Q

What is seen on Blood film of b-cell non-hodgkin’s lymphoma?

A

Diffuse large B-cell lymphoma
Follicular lymphoma
Mucosa associated lymphoid tissue

149
Q

What is seen on blood film of T-cell non-hodgkin’s lymphoma?

A

Peripheral T-cell lymphoma
Skin lymphoma
Anaplastic large cell lymphoma

150
Q

What makes a lymphoma a non-hodgkin’s lymphoma?

A

Any lymphoma without Reed-sternberg cells!

151
Q

What causes Non-Hodgkin’s lymphoma?

A

Complex process involving the accumulation of multiple genetic lesions
Changes in genome associated with oncogenic viruses (EBV & Burkitt’s lymphoma)

152
Q

What organisms cause genetic aberrations?

A

Viruses: EBV/HTLV-1/Herpes virus 8/HIV
Bacteria: H. Pylori
Autoimmune disorders: Sjorgen’s/SLE
Pesticides

153
Q

What are the extranodal disease in non-hodgkin’s lymphoma?

A

Skin
Oropharynx
Gut: Gastric MALT or non-MALT gastric lymphomas
Small bowel lymphomas

154
Q

What are the risk factors for Non-Hodgkin’s lymphoma?

A 
Age >50 years
Male
Immunosuppression/Chemo
EBV
HTLV-1
HIV
H. Pylori
SLE
Sjorgen's
155
Q

What are the symptoms for Non-Hodgkin’s lymphoma?

A

Painless enlarging mass (In neck, axilla or groin) - superficial lymphadenopathy
Systemic symptoms (less frequently than hodgkin’s)
Organ involvement

156
Q

What are the systemic symptoms of NHL?

A

Fever
Night sweats
Weight loss >10% body weight
Symptoms of hypercalcaemia

157
Q

What are the organ related symptoms for NHL?

A 
Extranodal disease
Skin rashes
Headache
Sore throat
Abdominal discomfort
Testicular swelling
158
Q

What are the signs of NHL?

A 
Painless, firm, rubbery lymphadenotpathy
Skin Rashes (mycosis fungoides)
Abdominal mass
Hepatosplenomegaly
Signs of bone marrow involvement 
- Anaemia
- Infections
- Purpura
159
Q

What are the investigations for NHL?

A 
FBC (Anaemia, neutropenia, thrombocytopenia)
ESR/CRP (Rasied)
LDH (Raised)
U&amp;Es (Hypercalcaemia)
HIV, HBV, HCV
Blood film (lymphoma cells)
Bone marrow aspiration and biopsy
Imagign (CXR/CT?PET)
Lymph node biopsy
Staging (Ann-Arbor)
160
Q

What is multiple myeloma?

A

Haematological malignancy characterised by proliferation of plasma cells resulting in bone lesions and the production of monoclonal immmunoglobulin (paraprotein, usually IgG or IgA)

161
Q

What is multiple myeloma classification based on?

A

Immunoglobulin production

162
Q

What causes multiple myeloma?

A 
Unknown
Possible Viral triggers
Chromosomal aberrations are frequent
Associated with ionising radiation
Agricultural world or  occupational chemical exposures
163
Q

What are the risk factors for multiple myeloma?

A

Abnormal free light chain ratio
Monoclonal gammopathy of undetermined significance
Radiation/petroleum exposure
Family history of multiple myeloma

164
Q

What are the CRAB symptoms of multiple myeloma?

A 
CRAB!
C - Calcium (High)
R - Renal Impairment (Thirst and polyuria)
A - Anaemia (Tiredness)
B - Bone pain/lesions
165
Q

What are the other symptoms of multiple myeloma?

A

Recurrent bacterial infection
Nausea
Constipation
Hyperviscosity (Bleeding/headaches/visual disturbances)

166
Q

What are the signs of multiple myeloma?

A 
Pallor
Tachycardia
Flow murmur
Signs of heart failure
Dehydration
Purpura
Hepatosplenomegaly
Carpal tunnel syndrome
Peripheral neuropathies
167
Q

What are the investigations for multiple mueloma?

A

FBC (Normochromic, normocytic anaemia)
Creatinine (Raised)
Albumin (raised)
ESR (Raised)
U&Es (Raised)
Blood film (Rouleaux with bluish-black background)
Serum or Urine electrophoresis (paraprotein and light chain excretion)
X-rays (Osteopenia/osteolytic lesions/pepper pot skull/pathological fractures)
Bone marrow aspirate (Raised plasma cells)`

168
Q

What is Myelodysplasia?

A

A series of haematological conditions that manifest as marrow failure.

169
Q

What characterises myelodysplasia?

A

Chronic pancytopenia (anaemia, neutropenia, thrombocytopenia) with low reticulocyte count and abnormal cellular maturation)

170
Q

What are the 5 subgroups of Myelodysplasia?

A 
Refractory anaemia (RA)
RA with Ringed sideroblasts
RA with excess blasts (RAEB)
Chronic myelomonocytic leukaemia (CMML)
RAEB in transformation (RAEB-t)
171
Q

What causes myelodysplasia?

A

May be primary (intrinsice bone marrow problem)
May arise in patients who have received chemotherapy or radiotherapy for previous malignancies
Patients may have chromosomal abnormalities

172
Q

What are the risk factors for myelodysplasia?

A

Chemotherapy
Radiotherapy
Down’s syndrome
Congenital Neutropenia

173
Q

What are the symptoms of Myelodysplasia?

A

Symptoms of bone marrow failure
- Anaemia (Fatigue, dizziness)
- Neutropenia (Recurrent infections)
- Thrombocytopenia (easy bruising, epistaxis)
Check risk factors:
- Occupational exposure to toxic chemicals
- Prior chemo or radiotherapy

174
Q

What are the signs of myelodysplasia?

A

Signs of bone marrow failure:

  • Anaemia (pallor, cardiac flow murmur)
  • Neutropenia (infections)
  • Thrombocytopenia (Purpura or ecchymoses)
  • Gum hypertrophy
  • Lymphadenopathy
  • Spleen NOT enlarged (except in CML)
175
Q

What are the investigations for Myelodysplasia?

A

FBC (pancytopenia)
Blood film
- Normocytic/Macrocytic red cells
- Ring sideroblasts seen in marrow

176
Q

What is Myelofibrosis?

A

Disorder of haematopoietic stem cells characterised by progressive bone marrow fibrosis associated with extramedullary haematopoiesis and splenomegaly.

177
Q

What causes Myelofibrosis?

A

Primary stem cell defect
Results in increased numbers of abnormal megakaryocytes with stromal proliferation secondary to growth factors released by megakaryocytes
30% of patents have a previous history of polycythaemia rubra vera or essential thrombocythaemia (overproduction of platelets by the bone marrow)

178
Q

What are the risk factors for myelofibrosis?

A

Rare

Peak onset 50-70

179
Q

What are the symptoms for myelofibrosis?

A 
Systemic symptoms:
- Weight loss
- Anorexia
- Fever
- Night sweats
- Pruritis 
- Abdominal discomfort
Uncommon:
- LUQ pain
- Indigestion
- Bleeding
- Bone pain
- Gout
- Infections
180
Q

What are the signs of myelofibrosis?

A 
Splenomegaly
Hepatomegaly
Pallor
Petechiae
Haemarthrosis
Blood on PR
181
Q

What are the investigations for myelofibrosis?

A

FBC (Variable Hb, WCC and platelets)
- Later stages: Anaemia, leukopenia, thrombocytopenia
LFTs (Abnormal)
Blood film (Leucoerythroblastic changes, Tear drop poikilocyte red cell)
Bone marrow aspirate or biopsy (aspiration usually unsuccessful - ‘dry tap’ due to fibrosis)
Trephine bone marrow biopsy shows fibrotic hypercellular marrow, with dense reticulin fibres on silver staining - Diagnostic

Conditions (18 decks)

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