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Year 5 Path > Haematology > Flashcards

Haematology Flashcards

1
Q

What are acanthocytes (Spur/spike cells)?

A
  • RBCs show many spicules
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2
Q

What are underlying conditions of acanthocytes?

A
  • Abetalipoproteinaemia,
  • Liver disease
  • Hyposplenism
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3
Q

What is basophilic RBC stippling?

A
  • Accelerated erythropoiesis or defective Hb synthesis

- Small dots at the periphery are seen (rRNA)

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4
Q

What are underlying conditions of basophilic RBC stippling?

A
  • Lead poisoning,
  • Megaloblastic anaemia
  • Myelodysplasia
  • Liver disease
  • Haemoglobinopathy e.g. thalassaemia
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5
Q

What are burr cells? (Echinocytes)

A
  • Irregularly shaped cells
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6
Q

What are underlying conditions of burr cells?

A
  • Uraemia
  • GI bleeding
  • Stomach carcinoma
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7
Q

What are Heinz bodies?

A
  • Inclusions within RBCs of denatured Hb
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8
Q

What are underlying conditions of Heinz bodies?

A
  • Glucose-6-phosphate dehydrogenase deficiency

- Chronic liver disease

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9
Q

What are Howell-Jolly bodies?

A
  • Basophilic (purple spot) nuclear remnants in RBCs
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10
Q

What are underlying conditions of Howell-Jolly bodies?

A
  • Post-splenectomy or hyposplenism
    (e. g. sickle cell disease, coeliac disease, congenital, UC/Crohn’s, myeloproliferative disease, amyloid)
  • Megaloblastic anaemia, hereditary spherocytosis
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11
Q

What is leucoerythroblastic (myelophthisic) anaemia?

A
  • Marrow infiltration- nucleated RBCs and primitive WBCs into peripheral blood
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12
Q

What are underlying conditions of leucoerythroblastic (myelophthisic) anaemia

A
  • Marrow infiltration i.e. myelofibrosis, malignancy
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13
Q

What are Pelger Huet Cells?

A
  • Hyposegmented neutrophil
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14
Q

What are underlying conditions of Pelger Huet cells?

A
  • Congenital (lamin B Receptor mutation)

- Acquired (myelogenous leukaemia and myelodysplastic syndromes)

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15
Q

What is polychromasia? (Signs of reticulocytes)

A
  • Red Blood cells of multiple colours (particularly grey-blue), due to differing amounts of Hb in RBC
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16
Q

What are underlying conditions of polychromasia?

A
  • Premature/inappropriate release from BM
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17
Q

What are reticulocytes?

A
  • Immature RBCs (mesh-like network of ribosomal RNA

becomes visible with certain stains i.e. new methylene blue)

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18
Q

What are underlying conditions of reticulocytes?

A
  • ↑in haemolytic anaemias
  • ↓aplastic anaemia
  • chemo
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19
Q

What is right shift?

A
  • Hypermature white cells - hypersegmented polymorphs (>5 lobes to nucleus)
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20
Q

What are underlying conditions of reticulocytes?

A
  • Megaloblastic anaemia, uraemia, liver disease
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21
Q

What is Rouleaux formation?

A
  • Red cells stacked on each other
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22
Q

What are underlying conditions of Rouleaux formation?

A
  • Chronic inflammation
  • Paraproteinaemia
  • Myeloma
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23
Q

What are Schisocytes?

A
  • Fragmented parts of RBCs – typically irregularly shaped, jagged and asymmetrical
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24
Q

What are underlying conditions of schisocytes?

A
  • Microangiopathic anaemia, e.g. DIC, haemolytic uraemic syndrome, thrombotic thrombocytopenic
    purpura, pre-eclampsia
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25
Q

What are Spherocytes?

A
  • Sphere shaped RBC
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26
Q

What are underlying conditions of spherocytes?

A
  • Hereditary spherocytosis,

- Autoimmune Haemolytic Anaemia

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27
Q

What are Stomatocytes?

A
  • Central pallor is straight or curved rod-like shape. RBCs appear as ‘smiling faces’ or ‘fish mouth’
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28
Q

What are underlying conditions of spherocytes?

A
  • Hereditary stomatocytosis
  • High alcohol intake
  • Liver disease
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29
Q

What are Target cells? (Codocytes)

A
  • Bull’s-eye appearance in central pallor
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30
Q

What are underlying conditions of Target cells?

A
  • Liver disease
  • Hyposplenism
  • Thalassaemia
  • IDA
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31
Q

What is anaemia in men and women defined by?

A
  • Men: <135g/L (13.5g/dL)

- Women: <115g/L (11.5g/dL)

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32
Q

What are causes of anaemia?

A
  • Reduced production of RBCs or increased loss of RBCs (haemolytic anaemias)
  • Increased plasma volume (pregnancy)
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33
Q

What are symptoms of anaemia?

A
  • Fatigue
  • Dyspnoea
  • Palpitations
  • Faintness
  • Headache
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34
Q

What are signs of anaemia?

A
  • Pallor, in severe anaemia (Hb < 80g/L) → hyperdynamic circulation e.g. tachycardia, flow
    murmurs (ejection-systolic loudest over apex) → heart failure.
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35
Q

What are causes of microcytic anaemia? (FAST)

A

FAST
- Fe deficiency

  • Anaemia of chronic disease
  • Sideroblastic anaemia
  • Thalassaemia (in the absence of anaemia)
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36
Q

What are the causes of normocytic anaemia?

A
  • Acute blood loss
  • Anaemic of chronic disease
  • Bone marrow failure
  • Renal failure
  • Hypothyroidism
  • Haemolysis
  • Pregnancy
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37
Q

What are causes of macrocytic anaemia? (FATRBC)

A

FATRBC

  • Fetus (pregnancy)
  • Antifolates (e.g. phenytoin)
  • Thyroid (hypothyroidism)
  • Reticulocytes (release of larger immature cells e.g. with haemolysis)
  • B12 or folate deficiency
  • Cirrhosis (alcohol excess or liver disease)
  • Myelodysplastic syndromes
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38
Q

What are the signs of iron deficiency anaemia?

A
  • Koilonychia
  • Atrophic glossitis
  • Angular cheilosis
  • Post-cricoid webs (Plummer-Vinson syndrome)
  • Brittle hair and nails
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39
Q

What is on the blood film of iron deficiency anaemia?

A
  • Microcytic
  • Hypochromic
  • Anisocytosis (varying size)
  • Poikilocytosis (shape) pencil cells
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40
Q

What are gastroinestinal causes of iron deficiency anaemia?

A

Blood loss due to

  • Meckel’s diverticulum (older children)
  • Peptic ulcer/Gastritis (chronic NSAID use)
  • Polyps/Colorectal cancer (most common cause in adults >50 years)
  • Menorrhagia (women <50 years)
  • Hookworm infestations (developing countries)
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41
Q

Apart from GI losses, what are other causes of IDA?

A
  • Increased utilisation due to Pregnancy/lactation AND Infants/children- growth
  • Decreased intake: Prematurity, Infants/children/elderly
    • Loss of Fe each day fetus is not in utero
    • Suboptimal diet
  • Decreased absorption: Coeliac, Post-gastric surgery
    • Absence in villous surface in duodenum
    • Rapid transit, ↓ acid which helps Fe absorption
  • Microangiopathic Haemolytic anaemia, PNH
    • Chronic loss of Hb in urine → Fe deficiency
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42
Q

What are investigations for IDA (NICE Guidelines)?

A
  • If no obvious cause

- OGD + colonoscopy, urine dip, coeliac investigations

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43
Q

What is the treatment of IDA?

A
  • Treat the cause.
  • Oral iron (SE: nausea, abdominal discomfort, diarrhea/constipation, black stools).
  • With severe symptomatic anaemia: IV iron such as Ferrinject / Monofer (anaphylaxis risk)
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44
Q

What is anaemia of chronic disease?

A
  • Cytokine driven inhibition of red cell production
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45
Q

What are causes of anaemic of chronic disease?

A
  • Chronic infection (e.g. TB, osteomyelitis)
  • Vasculitis
  • Rheumatoid arthritis
  • Malignancy etc.
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46
Q

Why is Ferritin high in ACD?

A
  • Ferritin is an intracellular protein, iron store
  • Fe sequestered in macrophage to deprive invading bacteria of Fe (unless the patient has co-existing iron deficiency anaemia)
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47
Q

What is ACD in renal failure due to?

A
  • EPO deficiency
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48
Q

What is the pathophysiology of ACD?

A
  • Inflammatory markers like IFNs, TNF and IL1 reduce EPO receptor production (and thus EPO synthesis) by kidneys.
  • Iron metabolism is dysregulated.
  • IL6 and LPS stimulate the liver to make hepcidin, which decreases iron absorption from gut (by
    inhibiting transferrin) and also causes iron accumulation in macrophages.
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49
Q

What is sideroblastic anaemia?

A
  • Ineffective erythropoiesis → iron loading (bone marrow) causing haemosiderosis (endocrine, liver and cardiac damage due to iron deposition)
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50
Q

How is sideroblastic anaemia diagnosed?

A
  • Ring sideroblasts seen in the marrow (erythroid precursors with iron deposited in mitochondria in a ring around the nucleus).
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51
Q

What are causes of sideroblastic anaemia?

A
  • Myelodysplastic disorders
  • Following chemotherapy
  • Irradiation
  • Alcohol excess
  • Lead excess
  • Anti-TB drugs
  • Myeloproliferative disease
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52
Q

What is the treatment of sideroblastic anaemia?

A
  • Remove the cause

- Pyridoxine (vitamin B6 promotes RBC production)

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53
Q

What are the plasma iron studies of iron deficiency?

A
  • Iron ↓ TIBC ↑ Ferritin ↓
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54
Q

What are the plasma iron studies of anaemia of chronic disease?

A
  • Iron ↓ TIBC ↓ Ferritin ↑
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55
Q

What are the plasma iron studies of chronic haemolysis?

A
  • Iron ↑ TIBC ↓ Ferritin ↑
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56
Q

What are the plasma iron studies of haemochromatosis?

A
  • Iron ↑ TIBC ↓ (or N) Ferritin ↑
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57
Q

What are the plasma iron studies of pregnancy?

A
  • Iron ↑ TIBC ↑ Ferritin N
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58
Q

What are the plasma iron studies of sideroblastic anaemia?

A
  • Iron ↑ TIBC N Ferritin ↑
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59
Q

What are causes of macrocytosis?

A
  • Megaloblastic: B12 deficiency, folate deficiency, cytotoxic drugs.
  • Non-megaloblastic: Alcohol (most common cause of macrocytosis without anaemia), reticulocytosis (e.g. in haemolysis), liver disease, hypothyroidism, and pregnancy.
  • Other haematological disease: Myelodysplasia, myeloma, myeloproliferative disorders, aplastic anaemia.
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60
Q

What are features of a megaloblastic blood film?

A
  • Hypersegmented polymorphs
  • Leucopenia
  • Macrocytosis
  • Anaemia
  • Thrombocytopenia
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61
Q

What are sources of Vitamin B12?

A
  • Meat and Dairy products

- We have large stores

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62
Q

What are causes of Vitamin B12 deficiency?

A
  • Dietary (e.g. vegans)
  • Malabsorption
    • Stomach (lack of intrinsic factor which is produced by gastric parietal cells) → Pernicious anaemia, post gastrectomy
    • Terminal ileum (absorption) due to ileal resection, Crohn’s disease, bacterial overgrowth, tropical sprue and tapeworms
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63
Q

What are clinical features of Vitamin B12 deficiency?

A
  • Mouth: Glossitis, angular cheilosis
  • Neuropsychiatric: Irritability, depression, psychosis, dementia
  • Neurological: Paraesthesiae, peripheral neuropathy (loss of vibration and proprioception first, absent ankle reflex, spastic parapereisis, subacute combined degeneration of spinal cord)
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64
Q

What is pernicious anaemia?

A
  • Autoimmune atrophic gastritis → achlorhydria and lack of gastric intrinsic factor
  • Most common cause of a macrocytic anaemia in Western countries (Usually >40yrs)
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65
Q

What are specific tests for pernicious anaemia?

A
  • Parietal cell antibodies (90%)
  • Intrinsic factor antibodies (50%)
  • Schilling test (outdated)
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66
Q

What is the treatment of Vitamin B12 deficiency?

A
  • Replenish stores with IM hydroxocobalamin (B12)
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67
Q

What are sources of folate?

A
  • DIET - green vegetables, nuts, yeast & liver, synthesized by gut bacteria (low body stores,
    cannot produce de novo)
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68
Q

What are causes of folate deficiency?

A
  • Poor diet
  • Increased demand: pregnancy or ↑ cell turnover (haemolysis, malignancy, inflammatory disease and renal dialysis)
  • Malabsorption: coeliac disease, tropical sprue.
  • Drugs: alcohol, anti-epileptics (phenytoin), methotrexate, trimethoprim.
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69
Q

What is the treatment of folate deficiency?

A
  • Give oral folic acid.
  • If cause of anaemia is not known then folic acid must not be given, as this will exacerbate the neuropathy of B12 deficiency
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70
Q

What is haemolytic anaemia?

A
  • Breakdown of RBCs before their normal lifespan of ~120 days
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71
Q

What are signs of all haemolytic anaemias?

A
  • ↑bilirubin (unconjugated)
  • ↑urobilinogen
  • ↑LDH
  • Reticulocytosis (↑ MCV and polychromasia)
  • May have pigmented gallstones
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72
Q

What are signs of intravascular haemolytic anaemias?

A
  • ↑ free plasma Hb
  • ↓haptoglobin (binds free Hb)
  • Haemoglobinuria (dark red urine)
  • Methaemalbuminaemia (Haem + albumin in blood)
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73
Q

What are signs of extravascular haemolytic anaemias?

A
  • Splenomegaly
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74
Q

What are erythroid hyperplasia states susceptible to?

A
  • Parvovirus B19 (aplastic crisis)
  • Iron overload
  • Osteoporosis
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75
Q

How does haemolytic anaemia affect reticulocyte count?

A
  • if the patient is acutely anaemic, you would expect a high reticulocyte count as this means the bone marrow is responding and working harder to produce more red cells
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76
Q

What are inherited causes of haemolytic anaemia?

A
  • Membrane defect
    • Hereditary spherocytosis
    • Hereditary elliptocytosis
  • Enzyme defect
    • G6PD deficiency
    • Pyruvate kinase deficiency
  • Haemoglobinopathies
    • Sickle Cell Disease
    • Thalassaemias
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77
Q

What are acquired causes of haemolytic anaemia?

A
  • Immune
    • Autoimmune - warm or cold
    • Alloimmune - Haemolytic transfusion reactions
  • Non-immune
    • Mechanical e.g. metal valves, trauma
    • PNH, MAHA
    • Infections (e.g. Malaria), Drugs
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78
Q

What is hereditary spherocytosis?

A
  • Autosomal dominant - FHx to aid diagnosis (25% recessive or de novo!)
  • Spectrin or ankyrin deficiency (membrane proteins)
  • Susceptibility to effect of parvovirus B19 and often develop gallstones
  • Extravascular haemolysis - splenomegaly
79
Q

How is hereditary spherocytosis diagnosed?

A
  • Spherocytes
  • ↑osmotic fragility (lysis in hypotonic solutions)
  • [-ve DAT (Coombs) – not autoimmune Ab mediated]
  • Flow cytometry
80
Q

How is hereditary spherocytosis treated?

A
  • Splenectomy

- Folic Acid

81
Q

What is hereditary elliptocytosis?

A
  • Almost all forms are autosomal dominant – spectrin mutations
    • Except for Hereditary Pyropoikilocytosis (erythrocytes are abnormally sensitivity to heat) – autosomal recessive (small print)
  • Severity ranges from hydrops foetalis to asymptomatic
  • Erythrocytes are elliptical in shape on blood film
82
Q

Describe South East Asian Ovalocytosis

A
  • Recessive – heterozygous +/- malaria protection
83
Q

What is G6PD deficiency?

A
  • Commonest RBC enzyme defect – X linked
  • Prevalent in areas of malarial endemicitiy i.e. African, Mediterranean and Middle Eastern
    populations
  • Intravascular haemolysis: dark urine
84
Q

How are G6PD attacks characterised?

A
  • Rapid anaemia and jaundice

- With bite cells and Heinz bodies (blue deposits, oxidized Hb)

85
Q

What is G6PD attacks precipitated by?

A
  • Precipitated by oxidants as G6PD helps RBCs make glutathione which protects them from oxidant damage
  • Drugs (usually 2-3 days after starting) (e.g. primaquine, sulfonamides, aspirin),
  • Broad beans (within 1 day of eating)(favism), acute stressors, moth balls, acute infection
86
Q

How is G6PD diagnosed?

A
  • Enzyme assay ~2- 3 months after a crisis: young RBCs may have sufficient enzyme so results may appear normal
87
Q

What is the treatment for G6PD?

A
  • Avoid precipitants
  • Transfuse if severe, genetic screening (rare subtypes give chronic haemolysis for which splenectomy is a good treatment)
88
Q

What are the genetic inheritance and clinical features of pyruvate kinase deficiency?

A
  • Autosomal recessive (but autosomal dominant has been observed with the disorder)
  • Clinical features: can be
    • Severe neonatal jaundice
    • Splenomegaly
    • Haemolytic anaemia
89
Q

What is the treatment of pyruvate kinase deficiency?

A
  • Most do not require treatment (can incl blood transfusion or splenectomy)
90
Q

Describe haemoglobinopathies and some examples of them

A
  • Umbrella term – states a/w pathological effect of sickling
  • Autosomal recessive
  • Single base mutation; GAG → GTG. Glu → Val at codon 6 of β chain → HbS instead of HbA.
  • Sickle cell anaemia - Hb SS - severe
  • Sickle cell trait HbAS – usually asymptomatic except under stress (e.g cold, exercise)
91
Q

What are rarer forms of haemoglobinopathies?

A
  • Sickle-haemoglobin C disease – HbSC: one HbS inherited from one parent, and one HbC (defective b chain) inherited from the other
  • Sickle β thalassaemia – HbS/β: one HbS from one parent, β thalassaemia trait/ β0 from other. Sickle β0 similar in severity to HbSS
92
Q

When does sickle cell anaemia manifest?

A
  • 3-6 months

- (coincides with decreasing fetal Hb (HbF))

93
Q

How does sickling occur?

A
  • ↓O2 tension -> HbS polymerisation -> sickling
94
Q

What are important features of haemolysis?

A
  • Anaemia 60-80g/L
  • Splenomegaly
  • Folate deficiency
  • Gallstones
  • Aplastic crises (Parvovirus B19)
95
Q

What are important features of vaso-occlusion + infarction (Sickling)?

A
  • Stroke
  • Infections (hyposplenism, CKD)
  • Crisis (splenic, sequestration, chest and pain)
  • Kidney (papillary necrosis, nephrotic)
  • Liver (gallstones)
  • Eyes (retinopathy)
  • Dactilitis (impaired growth)
  • Mesenteric ischaemia
  • Priapism
96
Q

What features of sickle cell disease occur in children?

A
  • Strokes
  • Splenomegaly + splenic crises
  • Dactylitis
97
Q

What features of sickle cell disease occur in teenagers?

A
  • Impaired growth
  • Gallstones
  • Psych
  • Priapism
98
Q

What features of sickle cell disease occur in adults?

A
  • hyposplenism
  • CKD
  • Retinopathy
  • Pulmonary hypertension
99
Q

How is sickle cell disease diagnosed?

A
  • Sickle cells and target cells on blood film
  • Sickle solubility test
  • Hb electrophoresis
  • Guthrie test (birth) to aid prompt pneumococcal prophylaxis (+FHx)
100
Q

What is the treatment of an acute sickle cell crisis?

A
  • Opioid analgesia for painful crises

- Exchange transfusion in severe crises

101
Q

What is the treatment for chronic sickle cell disease?

A
  • All should be on:
    • Penicillin V, pneumovax, HIB vaccine
  • Some benefit from:
    • Folic acid & Hydroxycarbamide (increases HbF %)
    • Regular exchange transfusions
    • Carotid Doppler monitoring in early childhood with prophylactic exchange transfusion if turbulent carotid flow.
102
Q

How do thalassaemias cause dysfunction?

A
  • Unbalanced Hb synthesis→ unmatched globins precipitate→ haemolysis and ineffective erthyropoiesis
103
Q

What are features of β-thalassaemia?

A
  • Point mutations – ↓ β-chain synthesis (spectrum of disease), excess α-chains
  • ↑HbA2 and HbF
  • Skull bossing, maxillary hypertrophy, hairs on end skull X-ray
  • Hepatosplenomegaly
104
Q

What are the phenotypes of β-thalassaemia?

A
  • Β0 – no expression of the gene
  • Β+– some expression of the gene
  • Β – normal gene
  • β- thalassaemia minor (e.g. or β+/ β or β0/ β ) → Asymptomatic carrier, mild anaemia
  • β- thalassaemia intermedia (e.g. β+/ β+ or β0/ β+) → Moderate anaemia, splenomegaly, bony deformity, gallstones
  • β- thalassaemia major (β0/ β0) → 3-6mths severe anaemia, FTT, hepatosplenomegaly (extramedullary erythropoiesis), bony deformity, severe anaemia + heart failure
105
Q

How is β-thalassaemia diagnosed?

A
  • Hb electrophoresis (Guthrie test)
106
Q

How is β thalassaemia treated?

A
  • Minor and some intermedia forms may not need regular treatment
  • Blood transfusions with desferrioxamine to stop iron overload, plus folic acid
107
Q

What are features of α-thalassaemia?

A
  • Deletions - reduced α-chain synthesis, excess β-chains
  • 4 α genes, severity depends on number deleted
  • α- thalassaemia trait (1/2 deleted) → Asymptomatic, mild anaemia
  • HbH disease (3 deleted) → Moderate anaemia, splenomegaly
  • Hydrops Foetalis (4 deleted) → Incompatible with life
108
Q

What is the test for autoimmune acquired haemolytic anaemias?

A
  • +ve Direct antiglobulin test (DAT) (Coombs positive)
109
Q

What are two types of autoimmune acquired haemolytic anaemias?

A
  • Warm (WAIHA)- most common

- Cold Agglutinin Disease

110
Q

What are features of WAIHA?

A
  • 37 degrees
  • IgG
  • Positive Coombs test
  • Blood film - spherocytes
111
Q

What are causes of WAIHA?

A
  • Mainly primary idiopathic

- Lymphoma, CLL, SLE, methyldopa

112
Q

What is the management of WAIHA?

A
  • Steroids
  • Splenectomy
  • Immunosuppression
113
Q

What are features of Cold Agglutinin Disease?

A
  • < 37 degrees
  • IgM
  • Positive Coombs Test
  • Often with Raynaud’s
114
Q

What are causes of Cold Agglutinin Disease?

A
  • Primary idiopathic
  • Lymphoma, Infections: EBV,
    mycoplasma
115
Q

What is the management of Cold Agglutinin Disease?

A
  • Treat underlying condition
  • Avoid the cold
  • Chlorambucil (chemo)
116
Q

What is Paroxysmal Cold Haemoglobinuria (PCH) and what is it characterised by?

A
  • Haemoglobin in the urine usually caused by a VIRAL INFECTION e.g. measles, syphilis, VZV
  • DONATH-LANDSTEINER ANTIBODIES → stick to RBCs in cold → complement-mediated haemolysis on
    rewarming (self-limiting as IgG so dissociate at higher temp than IgM).
117
Q

What does Coombs negative mean?

A
  • Non-immune

- Some of these processes still involve abnormalities of the immune system

118
Q

What is Paroxysmal Nocturnal Haemoglobinuria?

A
  • Acquired loss of protective surface GPI markers on RBCs (platelets + neutrophils) → complement-mediated lysis → chronic intravascular haemolysis especially at night.
  • Morning haemoglobinuria, thrombosis (+Budd- Chiari syndrome – hepatic v thromb).
119
Q

How is Paroxysmal Nocturnal Haemoglobinuria diagnosed?

A
  • immunophenotype shows altered GPI or Ham’s test (in vitro acid-induced lysis)
120
Q

How is Paroxysmal Nocturnal Haemoglobinuria treated?

A
  • iron/folate supplements
  • Prophylactic vaccines/antibiotics
  • Expensive monoclonal antibodies (eculizumab) that prevents complement from binding RBCs
121
Q

What is Microangiopathic Haemolytic Anaemia? (MAHA)

A
  • Microangiopathic haemolytic anaemia (MAHA) – mechanical RBC destruction (forced through fibrin/plt mesh in damaged vessels) → schistocytes
122
Q

What are causes of MAHA?

A
  • HUS, TTP, DIC, pre-eclampsia, eclampsia. Rx – usually plasma exchange
123
Q

What is TTP?

A
  • Thrombotic thrombocytopenic purpura
  • Auto Immune – antibodies against ADAMTS13 lead to long strands of VWF which act like cheese wire in the blood vessels, cutting up RBCs.
  • MAHA, fever, renal impairment, neuro abnormalities, thrombocytopenia (classic pentad of symps).
124
Q

What is HUS?

A
  • Haemolytic Uraemic Syndrome
  • Caused by E. Coli → toxin damages endothelial cells → fibrin mesh and RBC damage à impaired renal function + microangiopathic haemolytic anaemia.
  • Diarrhoea, renal failure, no neuro problems, children and elderly
125
Q

Look at Coagulation Cascade diagram

126
Q

What medication affects the intrinsic pathway?

A
  • Heparin (related to APTT)
127
Q

What medication affects the extrinsic pathway?

A
  • Warfarin (related to PT)
128
Q

How does bleeding occur in vascular defects (easy bruising) and platelet disorders?

A
  • Superficial bleeding into skin, mucosal membranes

- Bleeding immediately after injury

129
Q

How does bleeding occur in coagulation disorders?

A
  • Bleeding into deep tissues, muscles, joints
  • Delayed, but severe bleeding after injury
  • Bleeding often prolonged
130
Q

What are different types of vascular defects?

A
  • Congenital: Osler-Weber-Rendu syndrome, connective tissue disease (e.g. Ehlers-Danlos syndrome)
  • Acquired: Senile purpura, infection (e.g. meningococcal, measles, dengue fever), steroids, scurvy (perifollicular haemorrhages)
131
Q

What are causes of acquired ↓Platelet function?

A
  • Aspirin, Cardiopulmonary bypass

- Uraemia

132
Q

What are causes of congenital ↓Platelet function?

A
  • Storage pool disease

- Thrombasthenia (glycoprotein deficiency)

133
Q

What are causes of thrombcytopenia (norm plt count 150-400x10^9 g/l) due to ↓production?

A
  • Bone marrow failure
134
Q

What are causes of thrombcytopenia (norm plt count 150-400x10^9 g/l) due to ↑destruction?

A
  • Drugs e.g. heparin, DIC, HUS, TTP
135
Q

What are features of acute ITP?

A
  • Peak age- Children (2-6 years old)
  • F:M- 1:1
  • Preceding infection- Common
  • Abrupt onset of symptoms
  • Plt count at presentation- <20,000
  • Duration- 2 - 6 weeks
  • Spontaneous remission- Common, usually self
    lim.
136
Q

What are features of chronic ITP?

A
  • Peak age- Adults
  • F:M- 3:1
  • Preceding infection- Rare
  • Abrupt but indolent onset of symptoms
  • Plt count at presentation- <50,000
  • Duration- Long-term (associated with autoimmune disease, CLL, HIV)
  • Spontaneous remission- Uncommon (Rx: IVIg, steroids, splenectomy)
137
Q

What are examples of inherited coagulation disorders?

A
  • Haemophilia A
  • Haemophilia B
  • Von Willebrand Disease
138
Q

What is haemophilia A?

A
  • Factor VIII deficiency

- X-linked recessive affecting 1/10,000 males

139
Q

How is haemophilia A diagnosed?

A
  • Often early in life or prolonged bleeding after surgery/trauma
140
Q

How haemophilia A present?

A
  • Often early in life or prolonged bleeding after surgery/trauma
141
Q

How is haemophilia A diagnosed?

A
  • ↑APTT, normal PT and ↓ factor VIII assay
142
Q

How is haemophilia A managed?

A
  • Avoid NSAIDs and IM injections
  • Desmopressin (↑ vWF release which is VIII carrier)
  • Factor VIII concentrates as replacement which is life long
143
Q

How is the severity of haemophilia A characterised?

A
  • related to factor level eg. sev <1%, mod 1-5%, mild 5-25%
144
Q

What are features of haemophilia B and its management?

A
  • Christmas disease
  • Factor IX deficiency
  • X-linked recessive affecting 1/50,000 males
  • Clinically like haemophilia A.
  • Management: Factor IX concentrates
145
Q

What is von Willebrand’s disease?

A
  • Several types – quantitative (deficiency) vs. qualitative
    • Variable phenotype from complete deficiency to asymptomatic mild deficiency
  • ↓ platelet function and ↓ factor VIII (vWF carries factor VIII in circulation)
  • Mostly autosomal dominant affecting 1/10,000
146
Q

How does von Willebrand’s disease present?

A
  • often bleeding indicative of platelet disorders (i.e. mucocutaneous bleeding) but can also include bleeding indicative of coagulation disorders
147
Q

How is von Willebrand’s disease diagnosed?

A
  • ↑ APTT, ↑ bleeding time, ↓ Factor VIII, ↓ vWF Ag. Normal INR & plts
148
Q

What is the management of von Willebrand’s disease?

A
  • Desmopressin
  • VWF
  • Factor VIII concentrates
149
Q

What are different types of acquired coagulation disorders?

A
  • DIC
  • Liver disease
  • Vitamin K deficiency
150
Q

What is DIC, its causes and its treatment?

A
  • Widespread activation of coagulation
  • Clotting factors and platelets are consumed → ↑ risk of bleeding
  • Causes: Malignancy, sepsis, trauma, obstetric complications, toxins.
  • Low plts, low fibrinogen, high FDP/D-Dimer, long PT/INR.
  • Treat the cause and give transfusions, FFP, platelets, cryo etc.
151
Q

What is liver disease? (coagulation disorder)

A
  • ↓ synthesis of II, V, VII, IX, X, XI and fibrinogen
  • ↓ absorption of vitamin K
  • Abnormalities of platelet function
152
Q

What is Vitamin K deficiency, its causes and treatment?

A
  • Vit K needed for synthesis of Factors II, VII, IX and X (buses that go/used to go down High St Ken- 27, 9, 10)
  • And Protein C/S (this is why warfarin may be pro-coagulant initially)
  • Causes: Warfarin, vitamin K malabsorption/malnutrition, Abx therapy, biliary obstruction
  • Treatment: IV vitamin K or FFP for acute haemorrhage
153
Q

Look at bleeding disorder table

154
Q

What are risk factors of venous thrombosis?

A
  • Venous stasis
  • Endothelial injury
  • Hypercoagulability
155
Q

Describe the Well score

A
  • for DVT and PE, 2 levels
  • High Wells score – Ultrasound affected limb for DVT / CTPA for PE
  • Intermediate Wells score – D-DIMER: if high, ultrasound/CTPA; if low, rule out
  • Low Wells score – consider other diagnosis
156
Q

What are inherited causes of VTE?

A
  • Antithrombin deficiency
  • Protein C deficiency
  • Protein S deficiency
  • Factor V Leiden – 5% caucasian pop, resistance to protein C
  • Prothrombin G20210A
  • Lupus anticoagulant
  • Coag excess – VIII (10%), II (2%), fibrinogen
157
Q

What are acquired causes of VTE?

A
  • Age, obesity
  • Previous DVT or PE
  • Immobilisation
  • Major surgery – esp ortho, >30 mins, plaster cast immobilsation
  • Long distance travel
  • Malignancy - esp pancreas.10% idiopathic VTE due
    to Ca
  • Pregnancy, COCP, HRT
  • Antiphospholipid syndrome
  • Polycythaemia
  • Thrombocythaemia
158
Q

What is DVT prophylaxis?

A
  • Daily subcutaneous LMWH (prophylactic dose)
  • TED stockings
  • Note: Some DOACs are now licensed for DVT prophylaxis e.g. in post-op ortho patients
159
Q

What is the treatment for DVT/PE?

A
  • LMWH (TREATMENT DOSE) FOLLOWED BY WARFARIN OR APIXABAN/RIVAROXABAN/EDOXABAN (DOACs)
  • LMWH stopped once INR in therapeutic range (2-3) general (with some DOACs LMWH can be stopped immediately)
    • Reason for continuing LMWH while warfarin started: Warfarin also affects protein C/S and often leads to procoagulant state in the first few days before anticoagulant effect
  • 1st VTE with known cause – 3 months oral anticoagulant
  • Cancer VTE – 3-6months LMWH (sometimes this is continued until cancer considered “in remission”)
  • 1st VTE unknown cause – 3-6months anticoagulation, possibly lifelong
  • 1st VTE in thrombophilic patient – 3 months anticoagulation, possibly lifelong
  • Recurrent VTE – lifelong treatment
  • TEDS to prevent postphlebitic syndrome
160
Q

How does heparin work?

What’s its antidote and side effects?

A
  • Potentiates antithrombin III which inactivates thrombin, and factors 9, 10, 11
  • LMWH: given SC once daily, does not require monitoring (except late pregnancy and renal
    failure)
  • Unfractionated heparin (used if renal impairment): given IV, loading dose then infusion, monitor APTT
  • Antidote: protamine sulphate
  • Side effects: bleeding and heparin induced thrombocytopenia (HIT), increased osteoporosis with long-term use (HIT and osteoporosis more common with UFH)
161
Q

How does warfarin work?
What is its risk?
How is it reversed?

A
  • Inhibits the reductase enzyme responsible for regenerating the active form of vitamin K and therefore inhibits the synthesis of factors 2, 7, 9, 10 and proteins C, S and Z
  • Risk of teratogenicity
  • Reversal: IV vitamin K (Takes 6 hours)/ prothrombin complex concentrate (Octaplex/Beriplex - takes 30 mins)
  • Dose adjusted to maintain INR in therapeutic range
162
Q

What are indications for a target INR of 2.5?

A
  • 1st episode DVT or PE, atrial fibrillation (2-3), cardiomyopathy, symptomatic inherited thrombophilia, mural thrombus, cardioversion
163
Q

What are indications for a target INR of 3.5?

A
  • Recurrent DVT or PE, mechanical prosthetic valve (2.5-3.5), coronary artery graft thrombosis, antiphospholipid syndrome
164
Q

What is the protocol for an INR of 5-8 (no bleeding)?

A
  • Withhold few doses, reduce maintenance.

- Restart when INR <5.

165
Q

What is the protocol for an INR of 5-8 (minor bleeding)?

A
  • Stop warfarin
  • Vit K slow IV
  • Restart when INR <5
166
Q

What is the protocol for an INR >8, no bleed, minor bleed?

A
  • Stop warfarin.
  • Vitamin K (oral/IV) no bleeding/if risk factors for
    bleeding or minor bleeding
  • Check INR daily.
167
Q

What is the protocol for major bleeding, (including

intracranial haemorrhage)?

A
  • Stop warfarin.
  • Give prothrombin complex concentrate
  • If unavailable, give FFP
  • Also give vitamin K IV.
168
Q

What are the antidotes of DOACs?

A
  • Dabigatran has an antidote, however it is extremely expensive (idaracizumab)
  • Apixaban has an antidote being developed
  • Edoxaban, Rivaroxaban do not have an “antidote”
169
Q

What should happen if person is on DOACs and there is non life-threatening bleeds or pre-op?

A
  • Half-lives are approximately 12 hours so withholding

one dose may be enough

170
Q

What should happen if person is on DOACs and there is life threatening bleeds or emergency surgery?

A
  • Prothrombin complex concentrate will reverse

the effects

171
Q

What are haematological changes in pregnancy?

A
  • Plasma volume ↑↑
  • Red cell mass ↑
  • Haemoglobin ↓
  • MCV ↑
  • Haematocrit ↓
  • Platelets ↓
  • WCC ↑
  • Factors VII, VIII, IX, X, XII ↑
  • Factor XI ↓
  • Protein S ↓
172
Q

What is HELLP syndrome, its key features, differentials and management?

A
  • Haemolysis, Elevated Liver enzymes, Low Platelets
  • Life-threatening complication associated with pregnancy
  • Key features – MAHA, ↑↑AST, ↑↑ALT, ↓platelets, normal APTT, PT
  • Differentials include DIC (↑APTT, ↑PT, ↓fibrinogen), AFLP (marked transaminitis)
  • Management – supportive, delivery of foetus
173
Q

What is haemolytic disease of the newborn?

A
  • A person may form red cell Ab through blood transfusion or if fetal cells enter woman’s circulation during pregnancy or delivery
  • If maternal Ab level is high, it can destroy fetal red cells if they have corresponding red cell Ag → fetal anaemia + jaundice (HDN)
  • Only IgG can cross placenta
  • Ab most often responsible is anti-D, therefore always transfuse RhD negative blood to RhD negative women of childbearing age
  • Other Ab: anti-c, anti-K, IgG ABO
174
Q

How to prevent Anti-D Ab formation?

A
  • In women who are RhD negative
  • Give mother intra-muscular anti-D Ig when she is at high risk of feto-maternal haemorrhage
  • Routine antenatal prophylaxis at 28 and 34 weeks
  • During pregnancy if sensitising event occurs (abortion, miscarriage, abdo trauma, ECV, amniocentesis etc.)
  • At delivery if baby is RhD positive
175
Q

What are clinical features of acute leukaemia (ALL and AML)?

A
  • BM function failure – Anaemia, Thrombocytopenia (bleeding), Neutropenia (infection)
    • Common to many haem disease processes
  • Organ infiltration – hepatomegaly, splenomegaly, lymphadenopathy, bone pain, CNS, skin, gum hypertrophy
176
Q

What is the aetiology of acute leukaemia?

A
  • Unknown – most of the time no clear triggers
  • Ionising radiation - radiotherapy
  • Cytotoxic drugs - chemotherapy
  • Benzene
  • Pre-leukaemic disorders, e.g: Myelodysplastic syndromes (MDS)/Myeloproliferative disorders
    (MPD)
  • Down’s: significantly increased risk of AML/ALL
  • Neonates: often (30%) develop transient abnormal myelopoeisis; resembles AML but resolves spontaneously and completely after few weeks
177
Q

How is acute leukaemia diagnosed?

A
  • (haem malignancy in general):
  • Morphology +/- cytochemistry (stains)
  • Immunophenotyping using flow cytometry (lineage, differentiation)
- Cytogenetics (chromosomal translocations)
Molecular genetics (PCR, point mutations etc)
178
Q

What is the epidemiology of ALL?

A
  • CHILDHOOD (ALL Children get ALL”)
179
Q

What are the clinical features of ALL?

A
  • General acute leukaemia features
  • Lymphadenopathy +++
  • CNS involvement +++
  • Testicular enlargement
  • Thymic enlargement (mediastinum)
180
Q

What are investigations for ALL?

A
  • High WCC (blasts)
  • Lymphocytes (or precursors) +++
  • Flow cytometry
    • CD34 = precursor/stem cells
    • CD3 = T lymphocytes
    • CD19 = B lymphocytes
181
Q

What is the management of ALL?

A

Chemotherapy:

  • Remission induction: Chemo
    agents often given with steroids
  • Consolidation: High dose multi drug
    chemotherapy
    • CNS treatment
  • Maintenance: 2 years in girls and
    adults, 3 years in boys
    • Consider allo-Stem Cell Transplant
  • Supportive: Supportive: Blood products, ABx,
    Allopurinol, fluid, electrolytes – to prevent tumour lysis syndrome
182
Q

What is the epidemiology of AML?

A
  • Adulthood (risk increases with age) and under-2s (infant peak)
183
Q

What are clinical features of AML?

A
  • General acute leukaemia features

Subtypes
- M3: Acute promyelocytic leukaemia – prone to DIC

  • M4+5: Monoblasts/monocytes - Skin / gum infiltration +
    hypokalaemia
184
Q

How is AML investigated?

A
  • High WCC (blasts)
  • AUER RODS and granules

Flow cytometry:
- CD34 = precursor/stem cells

  • MPO = Myeloid cells
185
Q

What is the management of AML?

A

Chemotherapy:
- Similar principles to ALL but…

  • No CNS prophylaxis / maintenance therapy needed
  • Consider allo-SCT in young

Specific:
- ATRA for M3 (acute promyelocytic leukaemia)

Supportive:
- Similar principles to ALL

  • Prognosis worse with age
186
Q

What is Chronic Myeloid Leukaemia?

A
  • A myeloproliferative disease
  • Middle-aged typically (40 to 60).
  • Often diagnosed on routine bloods (large number of differentiated neutrophils)
  • 95% remission rate with imatinib
  • O/E: splenomegaly - often massive
187
Q

What are investigations for CML?

A
  • Ph+ve (Philadelphia chromosome) in 80% = chromosomal translocation (9;22)
  • PCR for BCR-ABL (Philadelphia Ch) fusion gene
  • Monitor disease and therapeutic response
  • WBC, Neutrophils 50-500
  • Hypercellular BM with spectrum of immature (e.g. myelocytes) and mature granulocytic cells in the blood
188
Q

Describe the phases in CML

A

Chronic phase

  • <5% blasts in BM/blood, WBC increases over years
  • Rx = Imatinib (BCR-ABL tyrosine kinase inhibitor) or dasatinib/nilotinib for resistance; extremely effective and well tolerated. Treatment usually started immediately after diagnosis confirmation regardless of symptoms

Accelerated phase

  • > 10% blasts in BM/blood
  • Increasing manifestations, such as splenomegaly, lasting up to a year
  • Less responsive to therapy

Blast phase

  • > 20% blasts in BM/blood
  • Resembles acute leukaemia; timeframe = months (+/- WL, lethargy, night sweats)
  • Treatment similar to AML, possibly with allogeneic SCT for young pts
189
Q

What is CLL?

A
  • A lymphoproliferative disease.
  • CLL and Small lymphocytic lymphoma (SLL) are essentially the same disease process with slightly different presentations – CLL is primarily seen in the BM, SLL in the LNs.
  • M>F, elderly (median 65-70)
190
Q

What are clinical features of CLL?

A
  • May be asymptomatic, often diagnosed on routine bloods (80% cases)
  • Symmetrical painless lymphadenopathy
  • BM failure - anaemia & thrombocytopenia symptoms, recurrent infections (50% deaths)
  • Weight loss, low grade fever, night sweats
  • Hepatomegaly & splenomegaly (less prominent)
  • Associated with autoimmunity (Evan’s Syndrome) – AIHA, ITP
  • Can progress to a form of lymphoma (DLBC, see later) – Richter’s transformation
191
Q

What are investigations for CLL?

A
  • High WBC with lymphocytosis >5 (high % of WBC composed of lymphocytes, small mature)
  • Low serum Ig
  • SMEAR CELLS (remember SMEAR CLLs) – seen on blood film Ix
  • Abnormal BM – lymphocytic replacement
192
Q

What are prognostic factors for CLL?

A
  • LDH raised, CD38 +ve, 11q23 deletion = bad

- Hypermutated Ig gene, Low ZAP-70 expression, 13q14 deletion = good

193
Q

What is the Binet Staging for CLL?

A

Stage A

  • High WBC
  • <3 groups of enlarged lymph nodes
  • Usually no treatment required

Stage B
- >3 groups of enlarged lymph nodes

Stage C
- Anaemia or thrombocytopenia

194
Q

What is the treatment for CLL?

A
  • Many patients benefit from watchful waiting if they are asymptomatic with slowly progressive disease
  • Supportive treatment with transfusions, infection prophylaxis
  • 1st line: if p53 deletion = alemtuzumab otherwise = clinical trial or chlorambucil

Year 5 Path (3 decks)

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