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All conditions - Year 3 > Haematology > Flashcards

Haematology Flashcards

1
Q

What is Microcytic anaemia

A

This is anaemia associated with an MCV of <80fL

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2
Q

What are the causes of a Microcytic anaemia

A

Iron deficiency - Most common

  • Blood loss - e.g. GI
  • Reduced absorption - Small bowel disease
  • Increased demands - Growth, pregnancy
  • Reduced intake - Vegans

Anaemia of chronic disease - Microcytic anaemia associated with chronic disease

Thalassemia

Sideroblastic anaemia - Abnormality of haem synthesis

Lead poisoning

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3
Q

What are the signs and symptoms of a Microcytic anaemia

A

Asymptomatic

Fatigue
Faitness
Dyspnoea
Angina pectoris, intermittent claudication if coexistent arterial disease

Pale skin
Pale mucous membranes
Tachycardia
Koilonychia (Spoon shaped)
Cardiac failure
Glossitis
Angular stomatitis
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4
Q

How is Iron deficiency anaemia diagnosed

A

FBC: Low Hb, Low MCV

Serum iron: Low
Ferritin: Low
Transferrin: High
Transferring saturation: Low

Blood film:

  • Microcytic
  • Hypochromic
  • Anisocytosis (variations in size) - Poikilocytosis (variations in shape)
Cause:
OGD + Colonoscopy if:
- Male
- Post-menopausal women
- Women with minimal menstrual loss

IgA-TTG - For coeliac (Malabsorption)

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5
Q

How is Iron deficiency anaemia treated

A

Treat underlying causes
Oral iron supplements
IM/IV iron if intolerant or poorly responsive to oral iron

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6
Q

What are causes of Anaemia of chronic disease

A

Chronic inflammatory disease - RA
Chronic infection - TB
Chronic malignancy

Due to cytokine release:

  • Blocking erythropoietin production
  • Blocking iron flow out of cells
  • Increasing iron stores intracellularly
  • Increasing red cell turnover
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7
Q

How is Anaemia of chronic disease diagnosed

A

CRP/ESR - Raised
FBC - Low Hb, Low or Normal MCV

Iron studies:
Serum iron: Low
Ferritin: High or Normal (Acute phase protein)
Transferrin: Normal or Low
Transferrin saturation: Normal
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8
Q

Outline Sideroblastic anaemia

A

This is a microcytic anaemia due to a problem with them synthesis

The blood film will be dimorphic and show hypochromic microcytic cells and there will be ring sideroblasts in the bone marrow

To manage it one would five Pyridoxine if it is an inherited form and if all else fails blood transfusions with chelation should be considered

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9
Q

Outline Lead poisoning

A

Lead poisoning will lead to:
Anorexia, N+V, Abdominal pain, constipation and peripheral nerve lesions

Signs:
Blue gumline
Peripheral verne lesions (Wrist or foot drop)
Encephalopathy
Convulsions
Reduced consciousness

Finding:
Basophilic stippling

Management:
Dimercaprol
D-penicillinamine

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10
Q

What is Thalassemia

A

A group of genetic disorders characterised by reduced global chain synthesis - Autosomal recessive

5% of the world thought to be carriers - Greek, Turkish, Cypriot, South East Asain and Chinese

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11
Q

What are the 2 different types of Thalassemia

A

Alpha-Thalassemia - Reduced synthesis of alpha chain

Beta-Thalassemia - Reduced synthesis of beta chain

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12
Q

Outline the different types of Alpha-thalassemia

A

The are 4 alpha-globin genes on the chromosome

4 deletions = Haemoglobin Barts Hydrops Fetalis (interuterine death)

3 deletions = Haemoglobin H

  • Microcytic Hypochromic anaemia
  • Target cells and Heinz bodies.
  • Hepatosplenomegaly - Lifelong transfusions

2 deletions = Alpha 0 thalassemia
- Microcytic Hypochromic RBCs - No anaemia

1 deletion = Alpha+ thalassemia
- Microcytic Hypochromic RBCs - No anaemia

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13
Q

Outline the different types of Beta-thalassemia

A

Major (Homozygous)

  • Presents at 2-3 months with profound anaemia failure to thrive and recurrent infections.
  • Bony abnormalities due to bone marrow hypertrophy
  • Extramedullary hematopoiesis causes hepatosplenomegaly

Intermedia (Homozygous beta and alpha thalassemias)

  • Moderate anaemia that doesn’t require transfusion.
  • Splenomegaly
  • Gallstones
  • Bone deformities
  • Recurrent leg ulcers

Minor/Trait (Heterozygous)

  • Asymptomatic carrier
  • Mild or absent anaemia can be confused with IDA
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14
Q

What are signs and symptoms of Thalassemia

A

Beta - Anaemia, presenting in first few months of life. Failure to thrive. Prone to infection

Beta thalassemia major/Intermedia
Pallor
Malaise
Dyspnoea
Mild jaundice
Frontal bossin
Thalassaemia facies 
Hepatosplenomegaly
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15
Q

What are the investigative findings in Thalassemia

A

FBC - Low Hb, MCV, MCH

Iron studies:
All normal

Blood film:

  • Hypochromic microcytic anaemia
  • Target cells
  • Nucleated red cells
  • Reticulocytosis
Hb electrophoresis:
- Alpha: Low or normal HbA2
- Beta: High HbA2 and HbF
Major: No/Minimal HbA
Intermedia: Decreased HbA
Trait: Mostly HbA
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16
Q

How is Thalassemia treated

A

Blood transfusions to keep Hb>10

Iron chelators to prevent iron overload

Bone marrow transplant - Curative

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17
Q

What is Macrocytic anaemia

A

This is anaemia associated with an MCV of >96fL

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18
Q

What are the 2 types of Macrocytic anaemia

A

Megaloblastic = Developing RBCs in bone marrow with delayed nuclear maturation relative to their cytoplasm - Defective DNA synthesis

Normoblastic

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19
Q

What causes of a megaloblastic Macrocytic anaemia

A

Vitamin B12 deficiency
Folate deficiency

Drugs: Methotrexate, Hydroxyurea, Azathioprine, Zidovudine

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20
Q

What causes of a normoblastic Macrocytic anaemia

A
  • Pregnancy
  • Alcohol excess + Liver disease
  • Reticulocytosis (Haemolytic processes) - Red cell immature form
  • Hypothyroidism
  • Haematological disorders (Aplastic anaemia)
  • Drugs (Hydroxycarbamide, Tyrosin kinase inhibitors)
  • Multiple myeloma + Myelodysplasia
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21
Q

What are the signs and symptoms of Macrocytic anaemia

A

Asymptomatic

Fatigue
Faitness
Dyspnoea
Angina pectoris, intermittent claudication if coexistent arterial disease

Pale skin
Pale mucous membranes
Tachycardia
Koilonychia (Spoon shaped)
Cardiac failure
Glossitis
Angular stomatitis
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22
Q

How is Macrocytic anaemia diagnosed

A

FBC - Low Hb, High MCV

  • Pancytopenia - Megaloblastic anaemia
  • Different degrees off cytopenia - Myelodysplasia
  • Exclude reticulocytosis

LFT - High bilirubin - Due to ineffective erythropoiesis or haemolysis

B12
Folate
TFT
Anti-parietal cell and Anti-intrinsic factor antibodies

Blood film:
Megaloblastic anaemia:
- Megaloblasts
- Hypersegmented neutrophil nuclei

Schilling test - Method testing for pernicious anaemia - B12 will only be absorbed when given with intrinsic factor

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23
Q

How is a Macrocytic anaemia treated

A

Pernicious anaemia - IM hydroxycobalamin for life

Folate deficiency - Oral folic acid
If B12 deficiency is present it must be treated before the folic acid deficiency

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24
Q

What are complications of Macrocytic anaemia

A

Pernicious anaemia gives and increased risk of gastric cancer

In pregnancy a folate deficiency increases risk of neural tube defects

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25
Q

What are causes of vitamin B12 deficiency

A

Low intake - Vegans (B12 is found in meat and animals protein foods)

Impaired absorption

  • Stomach (Pernicious anaemia, gastrectomy etc.)
  • Small bowel (Crohn’s disease, coeliac disease, tropical sprue)

B12 is absorbed in the terminal ileum and requires Intrinsic factor which is produced by gastric parietal cells

Pernicious anaemia is an autoimmune condition involving gastritis, atrophy of all layers of the body and fungus of the stomach and loss of normal gastric glands, parietal and chief cells - 80% of megaloblastic anaemia due to impaired vitamin B12 absorption

Drugs: Colchicine, metformine

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26
Q

What are the signs and symptoms of B12 deficiency

A

Normal symptoms and signs of anaemia
+
Jaundice
Neurological symptoms: Paraesthesia, Numbness, Cognitive changes, Visual disturbances

Neuropsychiatric signs: Irritability, dementia, depression
Neurological signs: Subacute combined degeneration of the spinal cord, peripheral neuropathy

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27
Q

How is a B12 deficiency diagnosed

A

FBC & Blood film

  • Hypersegmented neutrophils
  • Oval macrocytes
  • Circulating megaloblasts
  • Low reticulocytes

Pernicious anaemia tests

  • Anti-Intrinsic factor antibodies
  • Anti-parietal cell antibodies
  • Schiling test

Serum B12 - Is not completely accurate
Plasma total homocysteine - Elevated
Plasma methylmalonic acid - Elevated
Holotranscobalamin - Low

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28
Q

What are causes of folate deficiency

A
  • Poor intake (Main cause) - Elderly, poverty, alcohol excess, eating disorders
  • Malabsorption - Crohn’s disease, coeliac disease, tropical sprue
  • Drugs (Methotrexate, phenytoin)

Excess utilisation:

  • Physiological: Pregnancy, adolescent, prematurity
  • Pathological: Haemolytic anaemia, malignancy, inflammatory diseases

Folate is found in leafy greens

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29
Q

How is a folate deficiency diagnosed

A

FBC & Blood film:

  • Hypersegmented neutrophils
  • Oval macrocytes
  • Circulating megaloblasts
  • Low reticulocytes

Serum folate: Low
RBC folate: Low - Diagnostic

Investigate malabsorptive causes if needed

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30
Q

What is Normocytic anaemia

A

This is anaemia associated with a normal MCV

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31
Q

What are causes of a Normocytic anaemia

A

Decreased production of normal-sized blood cells (Anaemia of chronic disease, aplastic anaemia)

Increased production of HbS (Sickle cell disease)

Increased destruction of red blood cells (Haemolysis, Acute blood loss)

Uncompensated increase in plasma volume (Pregnancy, fluid overload)

Marrow infiltration/fibrosis

Endocrine disease

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32
Q

What are the signs and symptoms of Normocytic anaemia

A

Typical signs and symptoms of anaemia

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33
Q

How is Normocytic anaemia

A

FBC - Low Hb, Normal MCV

Check history for haemorrhage

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34
Q

What is Polycythaemia

A

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

Relative - Normal red cell mass but low plasma volume
Absolute/True - Increased red cell mass

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35
Q

What are the causes of Polycythaemia

A

Polycythaemia Rubra Vera

  • Myeloproliferative disorder
  • JAK2 tyrosine kinase are involved

Secondary polycythaemia
Appropriate increase in erythropoietin
- Due to chronic hypoxia (Chronic lung disease, living at high altitude)

Inappropriate increase in erythropoietin

  • Renal (Carcinoma, cysts, hydronephrosis)
  • Inapproriate blood transfusion
  • Secondary ploycythaemia may be due to erythropoietin abuse by athletes
  • HCC
  • Fibroids
  • Cerebellar haemangioblastoma

Relative polycythaemia

  • Dehydration
  • Gaisbock’s syndrome - Occurs in young male smokers with HTN, which results in a decrease in plasma volume and an apparent increase in red cell count
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36
Q

What are signs and symptoms of Polycythaemia

A

Frequently asymptomatic

  • Features of thrombosis
  • Features of haemorrhage
  • Headache
  • Pruritus
  • Erythromelalgia
  • Redness of fingers, palms, toes, heels
  • Facial redness
  • Splenomegaly (75%)
  • Plethoric complexion
  • Scratch marks from itching
  • Conjunctival suffusion
  • Retinal venous engorgement
  • HTN
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37
Q

How is Polycythaemia diagnosed

A

FBC - High Hb, High Ht, Low MCV

Isotope dilution techniques:

  • Allows confirmation of plasma volume and red cell mass
  • Distinguishes between relative and absolute polycythaemia
Polycythaemia Rubra Vera:
High WCC
High Platelets
Low serum EPO
JAK2 mutation
Bone marrow trephine and biopsy shows erythroid hyperplasia

Secondary Polycythaemia:

  • High serum EPO
  • Exclude chronic Lung disease/hypoxia
  • Check for EPO-secreting tumours
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38
Q

What is Sickle cell disease

A

A Chronic condition with sickling of red cells caused by inheritance of HbS

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39
Q

What are the different types of Sickle cell disease

A

Sickle cell anaemia = Homozygous HbS
Sickle cell trait = Carrier of one copy of HbS
Sickle cell disease = Includes compound heterozygosity for HbS and:
- HbC (Glutamic acid replaced by lysine)
- Beta-thalassemia

Present after 4 months

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40
Q

What are factors that precipitate sickling in Sickle cell disease

A

Infection
Dehydration
Hypoxia
Acidosis

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41
Q

What are the signs and symptoms of Sickle cell disease

A

Vaso-occlusion

  • Autosplenectomy
  • Abdominal pain
  • Bones - Dactylitis
  • Myalgia and arthralgia
  • Fits and strokes
  • Visual loss
  • Joint and muscle tenderness
  • Short digits
  • Cotton will spots due to retinal ischaemia

Sequestration crisis

  • Liver -> Exacerbation of anaemia
  • Lungs -> Acute chest syndrome (SOB, Cough, Pain, Fever)
  • Corpora cavernosa - Persistent painful erection - Priapism
  • Impotence
  • Organomegaly
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42
Q

How is Sickle cell anaemia diagnosed

A

FBC - Low Hb, High platelets, High WCC
Reticulocytes: High in haemolytic crisis, Low in aplastic crisis

Peripheral blood smear: Presence of nucleated red blood cells, sickle-shaped cells and Howell-Jolly bodies
Anisocytosis

Diagnostic: Hb Electrophoresis or DNA-based assay

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43
Q

How is Sickle cell disease treated

A

Acute - Painful crisis

  • Oxygen
  • IV Fluids
  • Strong analgesia (IV opiates)
  • Antibiotics

Infection Prophylaxis

  • Penicillin V
  • Regular vaccinations (particularly against capsulated bacteria e.g. pneumococcus)

Folic Acid
- If severe haemolysis or in pregnancy

Hydroxyurea/Hydroxycarbamide

  • Increases HbF levels
  • Reduces the frequency and duration of sickle cell crisis

Red Cell Transfusion

  • For SEVERE anaemia
  • Repeated transfusions (with iron chelators) may be required in patients suffering from repeated crises

Advice
- Avoid precipitating factors, good hygiene and nutrition, genetic counselling, prenatal screening

Surgical

  • Bone marrow transplantation
  • Joint replacement in cases with avascular necrosis
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44
Q

What are the possible complication of Sickle cell disease

A

Aplastic crisis - Infection with Parovirus B19 can lead to temporary cessation of erythropoiesis (Which can cause red cell count to plummet)

Haemolytic crisis
Pigment gallstones
Cholecystitis
Renal papillary necrosis
Leg ulcers
Cardiomyopathy
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45
Q

What is Antiphospholipid syndrome

A

This is the association of AP antibodies with a variety of clinical features characterised by thromboses and pregnancy related morbidity

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46
Q

What are the criteria for pregnancy related morbidity in Antiphospholipid syndrome

A
  • 3 miscarriages before 10 weeks
  • 1 miscarriage after 10 weeks
  • Premature birth of a morphologically normal neonate before 34 weeks because of Eclampsia, Severe Pre-eclampsia or placental insufficiency
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47
Q

What are the Antiphospholipid antibodies

A

Anti-cardiolipin
Anti-B2-glycoprotein 1
Lupus anticoagulant - Strong association with SLE

48
Q

What are signs and symptoms of Antiphospholipid syndrome

A 
Recurrent miscarriages
History of thromboses
Headaches (migraine)
Chorea
Epilepsy

Livedo reticularis (Mottled reticulated vascular pattern that appears as a lace-like purplish decolouration of the skin)
Signs of SLE
Signs of Valvular heart disease

49
Q

How is Antiphospholipid syndrome diagnosed

A

Lupus anticoagulant +ve twice 12 weeks apart
Anti-cardiolipin elevated twice 12 weeks apart
Anti-B2-glycoprotein elevated twice 12 weeks apart

High SLE antibodies (ANA, Anti-dsDNA, Anti-S)

FBC - Low platelets
U&C - Elevated if nephaopathy
Clotting screen - High APTT

50
Q

what is Aplastic anaemia

A

This is diminished haematopoietic precursors in the bone marrow and deficiency of all blood cell elements (pancytopenia)

At least 2 of Hb, Platelets or Neutrophils

51
Q

What are causes of Aplastic anaemia

A

Idiopathic (>40%)
- May be due to destruction or suppression of stem cells via autoimmune mechanisms

Acquired

  • Drugs (e.g. chloramphenicol, sulphonamides, methotrexate)
  • Chemicals (e.g. benzene, DDT) - Radiation
  • Viral infection (e.g. parvovirus B19)
  • Paroxysmal nocturnal haemoglobinuria (PNH)

Inherited

  • Fanconi’s anaemia
  • Dyskeratosis congenita (a rare, progressive bone marrow failure syndrome)
52
Q

What are signs and symptoms of Aplastic anaemia

A

There can be slow-onset or rapid-onset

Anaemia symptoms: Tiredness, lethargy, dyspnoea, pallor

Thrombocytopenia symptoms: Easy bruising, bleeding gums, epistaxis, petechiae

Leukopaenia symptoms: Increased frequency and severity of infections, Multiple bacterial and fungal infections

53
Q

How is Aplastic anaemia diagnosed

A

FBC: Low Hb, platelets, WCC, Normal MCV, Low or absent reticulocytes

Bone marrow biopsy and cytogenetic analyses - Hypocellularity

54
Q

What is Disseminated intravascular coagulation (DIC)

A

Acquired syndrome where there is activation of coagulation pathways that leads to intravascular thrombi and a decrease in platelets and coagulation factors. This leads to vascular obstruction and ischaemia leading to multi-organ failure

Generalised bleeding in at least 3 unrelated sites should lead to a high suspicion of DIC

55
Q

What are causes of DIC

A

Acute overt = Bleeding and depletion of platelets and clotting factors
Chronic non-overt: VTE is accompanied by generalised activation of the coagulation system

  • Sepsis
  • Malignancies - AML (Acute), Lung, GI, breast (Chronic)
  • Obstetric disorders
  • Sever organ destruction or failure
  • Vascular disorders
  • Severe trauma or surgery
  • Severe toxic immunological reactions
56
Q

What are the signs and symptoms of DIC

A 
Presence of underlying disorder
Hypotension and/or Tachycardia
Delirium and/or coma
Petechiae and/or Purpura fulminans
Oliguria and/or haematuria
Gangrene and/or aural cyanosis
Ecchymosis and/or oozing
57
Q

How is DIC diagnosed

A

FBC - Low Platelets, High PT and APTT, Low fibrinogen, High -dimers

Peripheral blood film
- Schistocytes

58
Q

What is Haemolytic anaemia

A

This is premature erythrocyte breakdown causing shortened erythrocyte life span with anaemia

59
Q

What are causes of Haemolytic anaemia

A

Inherited:

  • Membrane defects: Hereditary spherocytosis, Elliptocytosis
  • Metabolic defects: G6PD deficiency, pyruvate kinase deficiency
  • Haemoglobinopathies: Sickle cell disease, Thalassemia

Acquired:

  • Autoimmune - Antibodies attach to erythrocytes causing intravascular and extravascular haemolysis
  • Isoimmune: Transfusion reaction, Haemolytic disease of newborn
  • Drugs: Penicillin, Quinine, Caused by the formation of drug-antibody-erythrocyte complex
  • Trauma: Microangiopathic haemolytic anaemia (caused by RBC fragmentation in abnormal microcirculation) - Haemolytic uraemia syndrome, DIC, Malignant HTN.
  • Infection: Malaria, Sepsis
  • Paroxysmal nocturnal haemoglobinuria
60
Q

What are the signs and symptoms of Haemolytic anaemia

A

Jaundice
Haematuria
Anaemia - Pallor
Hepatosplenomegaly

61
Q

How is Haemolytic anaemia diagnosed

A

FBC - Low Hb, High reticulocytes, High MCV, High UCB

Blood film

  • Leucoerythroblastic picture
  • Macrocytosis
  • Nucleated erythrocytes or reticulocytes
  • Polychromasia
Potential:
Spherocytes
Elliptocytes
Sickle cells
Schistocytes
Malarial parasites

Urinalysis:

  • High URB
  • Haemoglobinuria
  • Haemosiderinuria

Direct Coombs Test - Tests for autoimmune haemolytic anaemia

Ham’s test - Lysis of erythrocytes in acidified serum in PNH

62
Q

What are Haemolytic uraemic syndrome (HUS) and Thrombotic thrombocytopenic purpura (TTP)

A

HUS is a triad of symptoms:

  1. Microangiopathic haemolytic anaemia
  2. Acute renal failure
  3. Thrombocytopenia

TTP is HUS with 2 additions symptoms:

  • Fever
  • Fluctuating CNS signs
There are 2 types of HUS:
Diarrhoea associated (D+) and no-prodomal illness identified (D-)
63
Q

What are the aetiology/risk factors for HUS and TTP

A

Infection - E. coli O157H7

  • Shigella
  • Neuraminidase-producing infections
  • HIV

Drugs

  • COCP
  • Ciclosporin
  • Mitomicin
  • 5-fluorouracil

Others:

  • Malignant HTN
  • Malignancy
  • Pregnancy
  • SLE
  • Scleroderma
64
Q

Who is likely to be affected by HUS and TTP

A

D+ HUS often affects children
It is the most common cause of AKI in children

TTP mainly affect adult females

65
Q

What are the signs and symptoms of HUS and TTP

A

HUS

  • Mainly affecting children
  • Watery diarrhoea (Especially blood stained)
  • Abdominal pain
  • Absence of fever
  • Oliguria or anuria
  • Haematuria
  • Pallor
  • HTN
TTP - Affects older patients (Pregnant, Black, Female)
Above
\+ Fever
\+ CNS signs
- Weakness
- Reduced vision
- Fits
- Reduced consciousness
66
Q

How are HUS and TTP diagnosed

A

HUS
FBC: Low Hb, Low Platelets,
Peripheral smear: Thrombotic microangiopathy (Schistocytes)
Reticulocyte: Elevated
Serum creatinine: Elevated
LDH: Elevated
Stool culture (Sorbitol) - E. coli O157:H7

TTP
FBC: Low Hb, Low WCC, Low Platelets
Peripheral smear: Thrombotic microangiopathy (Schistocytes)
Reticulocyte: Elevated
Serum creatinine: Elevated
LDH: Elevated
Indirect bilirubin: Elevated
Pregnancy test
67
Q

What is Haemophilia

A

Bleeding disorder resulting from an inherited deficiency of a clotting factor

X-Linked recessive inheritance

68
Q

What are the different types of Haemophilia

A

A - Factor 8 - Most common
B - Factor 9
C - Factor 11 - Very rare - Ashkenazi Jews

69
Q

What are the signs and symptoms of Haemophilia

A
  • Symptoms usually begin in early childhood
  • Swollen painful joints occurring spontaneously or with minimal trauma (haemarthroses)
  • Painful bleeding into muscles
  • Haematuria
  • Excessive bruising or bleeding after surgery or trauma
  • FEMALE carriers are usually asymptomatic, but may experience excessive bleeding after trauma
  • Generally speaking, bleeding in haemophilia is DEEP (into muscles and joints)
  • Multiple bruises
  • Muscles haematomas
  • Haemarthroses
  • Joint deformity
  • Nerve palsies (Compression)
  • Signs of Iron deficiency anaemia
70
Q

How is Haemophilia diagnosed

A

Clotting screen - High aPTT
Mixing study - aPTT corrected
Coagulation factor assays - Low Factor 8, 9 or 11

71
Q

What is Immune thrombocytopenic purpura (ITP)

A

Syndrome characterised by immune destruction of platelets resulting in bruising or bleeding tendency

72
Q

What are causes of ITP

A

Often idiopathic

Acute ITP is often seen after viral infection in children

Chronic ITP is more common in adults (Women)

ITP may be associated with:

  • Infections (Malaria, EBV, HIV)
  • Autoimmune disease (SLE, thyroid disease)
  • Malignancies
  • Drugs (Quinine)

Autoantibodies are generated which bind to platelet membrane proteins resulting in thrombocytopenia

73
Q

What are signs and symptoms of ITP

A 
Easy bleeding
Mucosal bleeding
Menorrhagia
Epistaxis
Visible petechiae and bruising
Signs of other illness would suggest that there is an underlying cause
74
Q

How is ITP investigated

A

Diagnosis of exclusion:

Exclude:
Myelodysplasia
Acute leukaemia
Marrow infiltration

Bloods:
FBC - Low platelets
Clotting screen - Normal PT, aPTT, Fibrinogen

Blood film:
Rule out Pseudothrombocytpoenia which is caused by platelets clumping together and giving falsely low counts

Bone marrow

75
Q

What is Von Willebrand’s disease

A

Genetic bleeding disorder which may present with mucocutaneous bleeding increased bleeding after trauma and easy bruising

76
Q

What are the different types of Von Willebrand’s disease

A

Type 1 - vWF works well but there isn’t enough of it
Type 2 - There are normal levels of vWF but it is abnormal and doesn’t function correctly
Type 3 - There is no vWF

77
Q

What are the causes of Von Willebrand’s disease

A

Usually autosomal dominant

78
Q

What are the signs and symptoms of Von Willebrand’s disease

A 
Easy bruising
Epistaxis - Hard to stop
Menorrhagia
Blood in stools
Haematuria

Just lots of prolonged bleeding

79
Q

How is Von Willebrand’s disease diagnosed

A 
aPTT - Prolonged
Factor VIII - Low
Bleeding time - High
vWF - Low/Normal
Ristocetin cofactor - reduced platelet aggregation by vWF in the presence of ristocetin
80
Q

What is Myelofibrosis

A

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

81
Q

What causes Myelofibrosis

A

Sometime causes there to be an increase in abnormal megakaryoctyes with stroll proliferation secondary to growth factors released by megakaryoctes

30% of patients have a previous history of polycythaemia ruby vera or essential thrombocythaemia

82
Q

What are the signs and symptoms of Myelofibrosis

A

Common:

  • Weight loss
  • Anorexia
  • Fever
  • Night sweats
  • Pruritus
  • LUQ pain

Uncommon:

  • Indigestion
  • Bleeding
  • Bone pain
  • Gout

Splenohepatomegaly

83
Q

How is Myelofibrosis diagnosed

A

FBC - Low Hb, Low WCC and Platelets in later stages

Peripheral smear: Nucleated red cells, teardrop cells (Poikilocyte), leukoerythroblastic changes

Bone marrow biopsy: Fibrosis (fibroblasts, collagen, and reticulin)

Abdominal CT scan: Enlarged spleen, perisplenic fluid collection if splenic infarction has occurred

84
Q

What is Myelodysplasia

A

A serious of haematological conditions characterised by chronic cytopenia and abnormal cellular maturation

5 types:
- Refractory anaemia (RA)
- RA with ringed sideroblasts (RARS)
- RA with excess blasts (RAEB)
- Chronic myelomonocyticleukaemia
(CMML)
RAEB in transformation (RAEB-­‐t)
85
Q

What are the causes of Myelodysplasia

A

It can be primary but it may also arise in patients who have received chemotherapy or radiotherapy for previous malignancies

Patients may have chromosomal abnormalities

86
Q

What are the signs and symptoms of Myelodysplasia

A

May be asymptomatic and diagnosed on routine blood counts

Anaemia - Fatigue, dizziness, pallor
Neutropenia - Recurrent infections
Thrombocytopenia - Easy bruising, epistaxis, purpura, petechiae

Gum hypertrophy
Lymphadenopathy
Spleen not enlarged (Except in CMML)

87
Q

How is Myelodysplasia diagnosed

A

FBC: Pancytopenia

Peripheral blood film:

  • Irregular or macrocytic RBCs
  • Dysplastic granulocytes
  • Platelets may be large and hypogranular

Bone marrow aspiration:

  • Usually hyper cellular
  • Dysplastic changes
  • Ringed sideroblasts

Cytogenetics:
May be abnormal

88
Q

What is Chronic myeloid leukaemia (CML)

A

Malignant clonal disease characterised by uncontrolled proliferation of mature and maturing granulocytes with fairly normal differentiation

95% have chromosomal translocation between ch9 and 22 forming the Philadelphia chromosome (BCR-ABL)

3 phases:
Chronic (4-6yrs)
Accelerated (3-9months)
Acute blast phase

89
Q

Who is usually affected by CML

A

Adults aged 40-60

Males

90
Q

What are the signs and symptoms of CML

A

Asymptomatic 50% diagnosed routine blood count

Weight loss
Malaise
Sweating
Lethargy
Easy bruising
Epistaxis
Splenomegaly - 90%
Gout
Hyperviscosity - Priapism, Headaches, Visual disturbances
91
Q

How is CML diagnosed

A

FBC: High WCC, Hb Low/Normal, Platelets

Blood film: Neutrophilia, Full spectrum of development stages, number of blasts depends on stage of disease

Bone marrow Aspirate or biopsy: Hypercellular with raised myeloid precursors

Cytogenics: FISH or PCR - Philadelphia chromosome

92
Q

What is Acute myeloid leukaemia (AML)

A

Malignancy of primitive myeloid linage white blood cells (Myeloblasts) with proliferation in the bone marrow and blood

Classfied using the FAB (French-American-British) system into 8 morphological variants

Replacement of normal marrow and bone marrow failure

93
Q

Who is usually affected by AML

A

Most common acute leukaemia in adults

94
Q

What are the signs and symptoms of AML

A 
Anaemia - Lethargy, SOB, pallor
Bleeding, ecchymosis - due to thrombocytopenia
Recurrent infections
Gum swelling
CNS involvement
Cardiac murmur
95
Q

How is AML diagnosed

A

FBC: High WCC, Low Platelets

Blood film: Myeloblasts, auer rods

Bone marrow Aspirate or biopsy: Hypercellular with >20% blasts

Cytogenics
Immunocytochemistry

96
Q

What is Chronic lymphocytic leukaemia (CLL)

A

Malignant monoclonal expansion of B lymphocytes that are morphologically normal but are immature and non-reactive

There is an overlap between CLL and non-Hodgkin’s lymphoma

Chromosomal changes include:

  • Trisomy 12
  • 11q and 13q deletions
97
Q

Who is usually affected by CLL

A

Adult males

98
Q

What are the signs and symptoms of CLL

A

50% are asymptomatic and diagnosis is made during a routine blood test

Symptoms and signs of anaemia
Recurrent infections
Constitutional symptoms

Symmetrical painless lymphadenopathy
Hepatosplenomegaly
Pallor
Cardiac murmur
Purpura
Easy bruising or bleeding
99
Q

How is CLL diagnosed

A

FBC: High WCC, Hb Normal/Low, Platelets Normal/Low

Blood film: Lymphocytosis, smear cells/smudge cells

Bone marrow Aspirate or biopsy: Heavy infiltration with lymphocytes

Cytogenics (For prognostication)
Immunocytochemistry

100
Q

What is Acute lymphoblastic leukaemia (ALL)

A

Malignancy of the bone marrow and blood characterised by the proliferation of lymphoblasts

Replacement of marrow leading to bone marrow failure

RFs:
Environmental: Radiation, viruses
Genetic: Down’s syndrome, NF type 1, Fanconi’s anaemia, Xeroderma pigmentosum

101
Q

Who is usually affected by ALL

A

Children

Bimodal - Second peak in elderly

102
Q

What are the signs and symptoms of ALL

A 
Constitutional symptoms
Anaemia - Fatigue, SOB, pallor
Bleeding
Recurrent infection
CNS disturbances
Bony tenderness
Gingival hyperplasia
Hepatosplenomegaly
Lymphadenopathy
Retinal haemorrhage + Papilloedema
Infiltration of anterior chamber of the eye
103
Q

How is ALL diagnosed

A

FBC - Low Hb, Platelets, High WCC
High LDH
Clotting screen

Blood film:
Abundant Lymphoblasts

Bone marrow Aspirate or biopsy: Hypercellular with >20% blasts

Cytogenics
Immunocytochemistry

104
Q

What is Multiple myeloma

A

Haematological malignancy characterised by proliferation of plasma cells resulting in bone lesions and the production of monoclonal immunoglobulin

105
Q

What are risk factors for Multiple myeloma

A

Possible viral trigger
Chromosomal aberrations are frequent
Associated with ionising radiation, agricultural work or occupational chemical exposures

106
Q

Who is usually affected by Multiple myeloma

A

Afro-caribbean>White>Asians

Peak incidence at 70 years old

107
Q

What are signs and symptoms of Multiple myeloma

A

Bone pain - Back and ribs
Infections - Often recurrent

Fatigue
Polydypsia
Polyuria
Nausea
Constipation
Mental changes - Hypercalcaemia

Hyper-viscosity: Bleeding, Headaches, Visual disturbances

Palow
Cardiac flow murmur
Signs of HF
Dehydration
Purpura
Hepatosplenomegaly
Macroglossia
Carpal tunnel syndrome
Peripheral neuropathies
108
Q

How is Multiple myeloma diagnosed

A 
FBC: Low Hb
High ESR
High CRP
U&amp;Es - High creatinine, high Ca
Normal ALP

Rouleaux formation with bluish background (Suggesting high protein)

Serum or urine electrophoresis: - Serum paraprotein
- Bence-Jones protein (Monoclonal immunoglobulin light chain that’s found in the urine and suggests Multiple myeloma)

Bone marrow aspirate and biopsy: High plasma cells >20%

Chest, pelvic and vertebral X-ray

  • Osteolytic lesions without surrounding sclerosis
  • Pathological fractures
109
Q

What is Hodgkin’s lymphoma

A

Neoplasms of the lymphoid cells originating in the lymph nodes or other lymphoid tissue.

Hodgkins (15% of lymphomas) is diagnosed histopathologically by the presence of Reed-Sternberg cells (binucleate lymphocytes)

EBV genome detected in 50% of Hodgkin’s lymphomas

110
Q

Who is usually affected by Hodgkin’s lymphoma

A

Males

Bimodal - 20-30 and >50

111
Q

What are the signs and symptoms of Hodgkin’s lymphoma

A

Painless enlarging mass - Most commonly in the neck can be in axilla or groin

Mass may be painful after alcohol ingestion

Fever
Night sweats
Weight loss 10% body mass in past 6 months

Pruritus - Skin excoriations
Cough
Dyspnoea
Splenomegaly
Signs of intrathoracic disease (Pleural effusion, SVC obstruction)
112
Q

How is Hodgkin’s lymphoma diagnosed

A

FBC - Low Hb, High WCC, High Neutrophils and eosinophils, Lymphopaenia in advanced disease

Lymph node biopsy - Reed-Sternberg cell

Bone marrow aspirate and biopsy:
Hodgkin’s cells

Imaging -
CXR - Mediastinal mass
CT - May show enlarged lymph nodes and other sites of disease
PET - Involved sites appear fluorodeoxyglucose (FDG)-avid (bright) with PET imaging

Ann Arbor staging

  • I = single lymph node region
  • II = 2+ lymph node regions on one side of the diaphragm
  • III = lymph node regions on both sides of the diaphragm
  • IV = extranodal involvement
  • A = absence of B symptoms
  • B = presence of B symptoms
  • E = localised extranodal extension
  • S = involvement of spleen
113
Q

What is Non-Hodgkin’s lymphoma

A

Neoplasms of the lymphoid cells originating in the lymph nodes or other lymphoid tissue.

Non-Hodgkin’s lymphomas are a diverse group consisting of:

  • 85% B cell
  • 15% T cell and NK cell

Stable
Indolent disease
Aggressive disease

114
Q

What are the causes of Non-Hodgkin’s lymphoma

A

Multiple genetic lesions
Oncogenic viruses: EBV and Burkitt’s lymphoma

Radiotherapy
Immunosuppressive agents
Chemotherapy
HIV, HBV, HCV
Connective tissue disease (SLE)

Increasing age + males

115
Q

What are the signs and symptoms of Non-Hodgkin’s lymphoma

A

Painless enlarging mass - Most commonly in the neck can be in axilla or groin

Fever
Night sweats
Weight loss 10% body mass in past 6 months
Symptoms of Hypercalcaemia

Extranodal disease more common in NHL than HL

Skin rashes
Headache
Sore throat
Hepatosplenomegaly
Testicular swelling
Infections
Purpura
116
Q

How is Non-Hodgkin’s lymphoma diagnosed

A 
FBC
Low Hb, Platelets and Neutrophils
High ESR and CRP
Hypercalcaemia
HIV, HBV, HCV serology

Blood film: Lymphoma cells may be visible in some patients

Bone marrow aspirate and biopsy: Positive

Lymph node biopsy - Positive

Imaging -
CXR - Mediastinal mass
CT - May show enlarged lymph nodes and other sites of disease
PET - Involved sites appear fluorodeoxyglucose (FDG)-avid (bright) with PET imaging

Ann Arbor staging

  • I = single lymph node region
  • II = 2+ lymph node regions on one side of the diaphragm
  • III = lymph node regions on both sides of the diaphragm
  • IV = extranodal involvement
  • A = absence of B symptoms
  • B = presence of B symptoms
  • E = localised extranodal extension
  • S = involvement of spleen

All conditions - Year 3 (16 decks)

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