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Haematology Flashcards

1
Q

What are the 4 types of leukaemia?

A
  1. Acute lymphoblastic
  2. Acute myeloid
  3. Chronic lymphocytic
  4. Chronic myeloid
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2
Q

Define myelodysplastic syndrome

A

A precursor syndrome to leukaemia occurring due to a defect in myeloid stem cells.

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3
Q

Give the presentation of myelodysplastic syndromes

A
  1. Elderly
  2. Pancytopenia (anaemia, infection, bleeding)

Blood film: thrombocytopenia, neutropenia, anaemia, monocytosis

Bone marrow aspirate: raised blast cells

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4
Q

Give the management of myelodysplastic syndromes

A

Conservative:
-Supportive care (incl. red cell/platelet infusion)

Gentle chemotherapy and bone marrow transplantation

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5
Q

Describe the epidemiology of ALL

A

The most common cancer in children.

Commonly seen age 2-4

Associated with trisomy 21 and radiation exposure.

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6
Q

Give the pathophysiology of ALL

A

Arrest of cell maturation and uncontrolled proliferation of blast cells resulting in build-up of immature lymphoid cells (normally give rise to T and B cells).

These are dysfunctional cells which occupy bone marrow volume and deny normal cells vital resources - resulting in pancytopenia.

Eventually ‘spill out’ into blood

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7
Q

Describe the presentation of ALL

A

Marrow failure:
-Anaemia: breathlessness, fatigue, angina, claudication, pallor
-Infection: fever, mouth ulcers, infection
-Bleeding: including bruising

Bone pain (due to marrow infiltration)

Hepatosplenomegaly (if liver/spleen infiltration)

Lymphadenopathy (if node infiltration)

Mediastinal infiltration (mediastinal mass, SVC obstruction)

CNS symptoms (rare - due to CNS infiltration)

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8
Q

Give the investigations for ALL

A
  1. FBC (raised WCC)
  2. Blood film (blast cells present)
  3. Bone marrow aspirate (blast cells present)
  4. CT TAP (for mediastinal mass/lymphadenopathy)
  5. Lumbar puncture (if CNS involvement)
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9
Q

Give the management of ALL

A
  1. Blood and platelet transfusion
  2. Prophylactic antibiotics/antivirals/antifungals
  3. Chemotherapy
  4. Bone marrow transplantation
  5. Allopurinol (xanthine oxidase inhibitor, thus reducing uric acid and preventing tumour lysis syndrome)
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10
Q

Describe the pathophysiology of AML

A

Neoplastic proliferaton of blast cells derived from marrow myeloid (give rise to basophils, neutrophils, eosinophils).

These are dysfunctional cells which occupy bone marrow volume and deny normal cells vital resources - resulting in pancytopenia.

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11
Q

Describe the epidemiology of AML

A

The most common leukaemia in those aged >60

Progresses rapidly to death in 2 months if untreated

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12
Q

Describe the presentation of AML

A

Gum hypertrophy

Marrow failure (anaemia, infection, bleeding)

Hepatosplenomegaly

Diffuse intravascular coagulation

(Less likely to see bone pain/organ infiltration than in ALL)

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13
Q

Describe the investigations for AML

A
  1. FBC: raised WCC
  2. Blood film: myeloid precursor cells
  3. Bone marrow aspirate: myeloid precursor cells

Auer rods seen in myeloid precursor cells!!!

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14
Q

Describe the management of AML

A
  1. Blood and platelet transfusion
  2. Prophylactic antibiotics/antivirals/antifungals
  3. Chemotherapy
  4. Bone marrow transplantation
  5. Allopurinol
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15
Q

Describe the epidemiology of CML

A

Almost exclusively a disease of adults (40-60)

> 80% have the Philadelphia chromosome

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16
Q

Give the pathophysiology of CML

A

Uncontrolled proliferation of mature myeloid cells which occupy bone marrow space and prevent normal blood cell production.

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17
Q

Give the presentation of CML

A
  1. Anaemia
  2. Abdo discomfort (splenomegaly)
  3. Weight loss
  4. Tiredness
  5. Pallor
  6. Fever and sweats without infection
  7. Bleeding
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18
Q

Give the investigations for CML

A
  1. FBC: raised WCC (especially myeloid cells (granulocytes) e.g. neutrophils, eosinophils, basophils), low Hb (normochromic and normocytic)
  2. Bone marrow aspirate: hypercellular
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19
Q

Give the management of CML

A
  1. Oral imatinib (tyrosine kinase inhibitor - inhibits proliferation of malignant cells)
  2. Stem cell transplant
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20
Q

What are the 3 stages of CML?

A

Chronic phase: may be asymptomatic

Accelerated phase: sign that disease is progressing, as blast cells build up in bone marrow and pancytopenia occurs (leading to anaemia, infection, bleeding)

Blast crisis: the acute terminal phase of CML where it rapidly progresses and behaves like an acute leukaemia. There is >20% blast cells in the blood/bone marrow with large clusters forming in the marrow, a worsening of pancytopenia and potentially a chloroma (a solid focus of leukaemia outside the bone marrow)

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21
Q

Describe the epidemiology of CLL

A

The most common leukaemia, occurring predominantly in later life (very rare in children)

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22
Q

Describe the pathophysiology of CLL

A

Accumulation of mature B cells which have escaped apoptosis and undergone cell cycle arrest.

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23
Q

Describe the presentation of CLL

A

Asymptomatic

Anaemia, recurrent infection

Weight loss, sweats, anorexia

Hepatosplenomegaly

Enlarged, rubbery lymph nodes

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24
Q

Give the investigations for CLL

A
  1. FBC: normal or low Hb, raised WCC with very high lymphocytes
  2. Blood film: smudge cells
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25
Q

Give the management of CLL

A
  1. Chlorambucil (chemotherapy) with prednisolone
  2. Human IV Ig
  3. Stem cell transplantation
  4. Blood transfusions
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26
Q

Describe the prognosis for CLL

A

Rule of 3’s:
-1/3 never progress
-1/3 progress slowly
-1/3 progress actively

May be stable for many years with death often occurring due to infection.

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27
Q

Describe Richter’s syndrome

A

The transformation of CLL into an aggressive high-grade lymphoma

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28
Q

Define lymphoma

A

Malignant proliferation of lymphocytes which accumulate in the lymph nodes and cause lymphadenopathy

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29
Q

Describe the histological features of the classifications of lymphoma

A

Hodgkin’s lymphoma: Reed-Sternberg (classical)/popcorn cells present (nodular lymphocyte predominant Hodgkin’s lymphoma)

Non-Hodkin’s lymphoma: any other lymphoma

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30
Q

Describe the epidemiology of Hodgkin’s lymphoma

A

Teenagers (13-19) and elderly (>65)

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31
Q

Describe the risk factors for lymphoma

A

HIV

Transplant recipients

Autoimmune disorders

EBV

Affected sibling

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32
Q

Describe the presentation of Hodgkin’s lymphoma

A

Painless cervical lymphadenopathy - “rubbery”

Hepatosplenomegaly

Weight loss, fever, night sweats

Cough (due to mediastinal lymphadenopathy)

SVC obstruction (emergency - fullness in head, facial oedema)

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33
Q

Describe the diagnostic investigations for Hodgkin’s lymphoma

A

Lymph node excision

Bone marrow biopsy

CT/MRI TAP (for staging)

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34
Q

Describe the staging system for lymphoma

A

Ann-Arbor Classification:
I - confined to single lymph node or region
II - two or more nodal areas on the same side of the diaphragm
III - involvement of nodes on both sides of the diaphragm
IV - spread beyond lymph nodes (i.e. to bone marrow)

Each stage further divided to A/B:
A - no systemic symptoms other than pruritus
B - presence of fever/night sweats/weight loss

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35
Q

Describe the management of Hodgkin’s lymphoma

A

ABVD chemotherapy

Radiotherapy

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36
Q

Describe ABVD chemotherapy

A

A - adriamycin
B - bleomycin
V - vinblastine
D - dacarbazine

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37
Q

Describe the complications of radiotherapy

A

Second malignancies

IHD

Lung fibrosis

Hypothyroidism

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38
Q

Describe the complications of chemotherapy agents

A

Doxorubicin - cardiotoxicity

Bleomycin - pulmonary fibrosis

Cisplatin - oto/nephrotoxicity

Methotrexate - hepatotoxicity

Cyclophosphamide - haematuria

Vincristine/vinblastine - peripheral neuropathy

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39
Q

Describe the epidemiology of Non-Hodgkin’s lymphoma

A

All lymphomas without Reed-Sternberg/popcorn cells

80% of B-cell origin

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40
Q

Describe the presentation of Non-Hodgkin’s lymphoma

A

Superficial lymphadenopathy

Fever, night sweats, weight loss

Pancytopenia (infection, anaemia, bleeding/bruising)

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41
Q

Describe the sub-classification of Non-Hodgkin’s lymphoma

A

Low grade (e.g. Follicular lymphoma) - slow growing, advanced at presentation, incurable

High grade (e.g. diffuse large B-cell lymphoma) - nodal presentation

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42
Q

Describe the diagnostic investigations for Non-Hodgkin’s lymphoma

A

Lactose dehydrogenase - sign of increased cell turnover and thus cell proliferation, indicating worse prognosis if raised

Lymph node excision

Bone marrow biopsy

CT/MRI TAP

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43
Q

Describe the management of Non-Hodgkin’s lymphoma

A

R-CHOP chemotherapy

Radiotherapy

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44
Q

Describe R-CHOP chemotherapy

A

R - rituximab

C - cyclophosphamide

H - hydroxy-daunorubicin

O - oncovin (vincristine)

P - prednisolone

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45
Q

Describe Burkitt’s lymphoma

A

B-cell lymphoma with jaw lymphadenopathy

Strong link with EBV

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46
Q

Describe the pathophysiology of myeloma

A

Cancer of differentiated B-lymphocytes (plasma cells) which produce antibodies.

Accumulation of malignant plasma cells in the bone marrow leading to progressive marrow failure.

Malignant plasma cells produce only one type of antibody (usually IgG), and so levels of this Ig are high while all others are low. This results in immunoparesis and increased susceptibility to infection.

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47
Q

Describe the presentation of myeloma

A

OLD CRAB

Old
C - calcium elevated
R - renal failure (nephrotic syndrome) - due to raised Ig being deposited in the kidneys and resulting in thirst
A - anaemia
B - bone pain - due to lytic lesions as a result of increased osteoclast activation and inhibition of osteoblasts

Recurrent infection (due to neutropenia)

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48
Q

Describe the diagnostic investigations for myeloma

A

FBC - anaemia

ESR

Blood film - normochromic normocytic anaemia, Rouleaux formation

U&E’s - high calcium and alk phos

Urinalysis - Bence-Jones protein present (light-chain Ig)

Plain XR - lytic ‘punched-out’ lesions, ‘pepper-pot’ skull, vertebral collapse, fracture, osteoporosis

Bone marrow biopsy - increased plasma cells

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49
Q

Describe the management of myeloma

A

Chemotherapy (CTD or VAD)

Stem cell transplant

Analgesia (avoid NSAIDs due to renal impairment)

Bisphosphonate (e.g. zoledronate)

Blood transfusions and erythropoietin (for anaemia)

Rehydrate (to prevent renal damage)

Dialysis

Antibiotics for infection

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50
Q

Describe CTD chemotherapy

A

Cyclophosphamide
Thalidomide
Dexamethasone

Used in those who are less fit.

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51
Q

Describe VAD chemotherapy

A

Vincristine
Adriamycin
Dexamethasone

Used in fitter individuals

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52
Q

Define febrile neutropenia

A

AKA neutropenic sepsis

Temperature >38C in a patient with neutrophils <1.0x10^9 L^-1

Haematological emergency! Infection with insufficient neutrophils to fight!

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53
Q

Describe the risk factors for febrile neutropenia

A

Recent chemotherapy

Recent stem-cell transplant

Those on methotrexate, carbimazole, clozapine

Haematological condition resulting in neutropenia (e.g. aplastic anaemia, autoimmune disease, leukaemia)

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54
Q

Give the presentation of febrile neutropenia

A

Pyrexia (>38C)

Generally unwell, sweats, rigors, cough, sore throat, abdo pain, diarrhoea

Tachycardia, hypotension, tachypnoea

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55
Q

Describe the management of febrile neutropenia

A

Broad spectrum antibiotics

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56
Q

Describe the risk factors of malignant spinal cord compression

A

Any malignancy (due to bone metastases, local tumour extension) - e.g. myeloma, lymphoma

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57
Q

Describe the presentation of malignant spinal cord compression

A

Back pain

Weakness/numbness in legs

Loss of bladder/bowel control

Saddle paraesthesia

Decreased perineal sensation

Decreased anal tone

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58
Q

Describe the management of malignant spinal cord compression

A

Strict bed rest

MRI whole spine

Analgesia

High dose steroid (e.g. dexamethasone)

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59
Q

Describe the pathophysiology of tumour lysis syndrome

A

A life-threatening metabolic derangement that occurs when malignant cells break down, resulting in neurological, cardiac and renal complications.

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60
Q

Describe the blood characteristics of tumour lysis syndrome

A

High uric acid
Hyperkalaemia
Hyperphosphataemia
Hypocalcaemia

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61
Q

Describe the risk factors for tumour lysis syndrome

A

High tumour burden (amount of cancer)

High grade disease (rapid cell turnover)

Pre-existing renal impairment

Increasing age

Drugs which increase uric acid

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62
Q

Describe the management of tumour lysis syndrome

A

Aggressive hydration

Dialysis

Allopurinol - reduces uric acid production

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63
Q

Describe hyperviscosity syndrome

A

Increase in blood viscosity, usually due to high levels of immunoglobulins.

Leads to vascular stasis and hypoperfusion

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64
Q

Describe the causes of hyperviscosity syndrome

A

Multiple myeloma (raised Ig)

Leukaemia (raised cell numbers)

Polycythaemia

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65
Q

Describe the presentation of hyperviscosity syndrome

A

Mucosal bleeding

Visual disturbance (hypoperfusion of retina)

Vertigo, hearing loss, paraesthesia, ataxia, headaches, seizure (hypoperfusion of brain)

SOB

Bruising

Gum bleeding

Nystagmus

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66
Q

Give the diagnostic investigations for hyperviscosity syndrome

A

Plasma viscosity levels
Immunoglobulin levels
FBC
CT head

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67
Q

Describe the management of hyperviscosity syndrome

A

Hydration and avoid transfusion

Plasmapheresis - removes circulating Ig

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68
Q

Describe the presentation of hypercalcaemia

A

‘Bones, stones, moans and psychiatric groans’:
-Bone pain
-Renal stones
-Abdo pain
-Confusion

Constipation
Nausea
Polyuria
Anorexia

Mostly seen in multiple myeloma.

Shortened QR interval, cardiac arrest.

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69
Q

Give the management of hypercalcaemia

A

IV hydration (3-4L per day)

Bisphosphonates (reduce Ca2+ production)

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70
Q

Describe the presentation of anaemias

A

Fatigue
Headaches
Dyspnoea
Angina
Anorexia
Intermittent claudication
Palpitations
Pallor
Tachycardia
Cardiac failure

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71
Q

Describe the causes of microcytic anaemia

A

Iron deficiency
Anaemia of chronic disease
Thalassaemia
Congenital sideroblastic anaemia
Lead poisoning

72
Q

Define ferritin and transferrin

A

Ferritin - intracellular iron storage protein
Transferrin - plasma protein which transports iron to the bone marrow for erythropoiesis

73
Q

Describe the epidemiology of iron deficiency anaemia

A

Most common cause of anaemia

Commonly seen in menstruating women

74
Q

Describe the caused of iron deficiency anaemia

A

GI bleeding
Menstruation
Poor diet
Hookworm
Increased demand (e.g. pregnancy, growth)
Malabsorption (e.g. coeliac)

75
Q

Describe the pathophysiology of iron deficiency anaemia

A

Less iron available for haem synthesis, therefore decrease in heamoglobin.

This causes microcytic hypochromic RBCs to form.

76
Q

Describe the presentation of iron deficiency anaemia

A

General symptoms of anaemia

Brittle nails and hair

Koilonychia - spooning of the nails

Atrophic glossitis

Angular stomatitis

77
Q

Give the diagnostic investigations for iron deficiency anaemia

A

FBC - low Hb and MCV, low reticulocytes (reduced production)
Blood film - microcytic, hypochromic RBCs
Iron studies - low ferritin and serum iron
Investigate cause (e.g. endoscopy)

78
Q

Give the management of iron deficiency anaemia

A

Find and treat cause

Oral iron (e.g. ferrous sulphate) - may cause GI disturbance

79
Q

Describe anaemia of chronic disease

A

Anaemia secondary to a chronic disease (if the body is sick, so is the bone marrow - as such there is reduced erythrocyte production)

Microcytic

80
Q

Describe the epidemiology of anaemia of chronic disease

A

The second most common anaemia

Seen in Crohn’s, RA, TB, SLE, malignancy

81
Q

Describe the pathophysiology of anaemia of chronic disease

A

Decreased release of iron from the bone marrow to developing erythrocytes, leading to inadequate erythropoietin response to anaemia and decreased erythrocyte survival.

82
Q

Describe the presentation of anaemia of chronic disease

A

Generalised anaemia features in the presence of a chronic disease

83
Q

Describe the diagnostic investigations for anaemia of chronic disease

A

Serum iron and total iron binding capacity are low

Serum ferritin normal/raised

Blood film - hypochromic microcytic anaemia

84
Q

Give the management of anaemia of chronic disease

A

Erythropoietin

Treat underlying cause

85
Q

What non-haematological cause can result in a raised ferritin

A

Inflammation! Ferritin is an acute phase reactant!

86
Q

Describe the classifications of macrocytic anaemia

A

Megaloblastic - erythroblasts with delayed nuclear maturation due to delayed DNA synthesis (e.g. pernicious anaemia, folate deficiency)

Non-megaloblastic - normal erythroblasts (e.g. haemolysis, alcohol)

87
Q

Describe the aetiology of B12 deficiency anaemia

A

Pernicious anaemia
Veganism
Removal of terminal ileum (where B12 absorbed)

88
Q

Describe the pathophysiology of pernicious anaemia

A

Autoimmune destruction of parietal cells, resulting in atrophic gastritis and a loss of intrinsic factor production (produced by parietal cells) resulting in subsequent B12 malabsorption.

89
Q

Describe the presentation of pernicious anaemia

A

Generic anaemia symptoms
Jaundice (due to haemolysis - body attempts to remove megaloblasts)
Glossitis, angular stomatitis
Neurological features (symmetrical paraesthesia, dementia, psychiatric pathology)

90
Q

Describe the investigations for pernicious anaemia

A

FBC: high MCV, low reticulocytes, low Hb

LFT: high bilirubin

Haematinics: low B12

Blood film: megaloblastic macrocytic anaemia (hypersegmented neutrophil polymorphs)

Intrinsic factor antibodies

91
Q

Give the management of pernicious anaemia

A

Oral vit B12

IM hydroxocobalamin

92
Q

Where is folate absorbed?

A

Duodenum and proximal jejenum

93
Q

What is the function of folate?

A

DNA synthesis

94
Q

Describe the pathophysiology of folate deficiency

A

Folate is required for DNA synthesis.

In deficiency there is delayed nuclear maturation and decreased erythropoiesis.

Deficiency may also cause neural tube defects in fetus.

95
Q

Describe the aetiology of folate deficiency anaemia

A

Poor intake (e.g. poverty, alcoholism)

Increased demand (e.g. pregnancy, increased cell turnover)

Malabsorption (coeliac, Crohn’s)

Antifolate drugs (e.g. methotrexate, trimethoprim)

96
Q

Describe the presentation of folate deficiency anaemia

A

Asymptomatic

Glossitis

NO NEUROPATHY - unlike B12 deficiency

General symptoms of anaemia

97
Q

Describe the investigations for folate deficiency anaemia

A

FBC: raised MCV

Haematinics: low folate

Blood film: megaloblastic anaemia (hypersegmented neutrophil polymorphs)

GI investigation

Serum bilirubin

98
Q

Describe the management of folate deficiency anaemia

A

Folic acid supplementation

Also give B12 to prevent subacute degeneration of the spinal cord (correct B12 before folate to also prevent this)

99
Q

Describe the pathophysiology of haemolytic anaemia

A

Normocytic or macrocytic

Premature breakdown of erythrocytes

Reticulocytes released prematurely - these are macrocytic

100
Q

Describe the aetiology of haemolytic anaemia

A

Hereditary spherocytosis

G6PD deficiency

Thalassaemias

Sickle cell disease

Autoimmune haemolytic anaemia

101
Q

Describe the investigations for haemolytic anaemia

A

Raised conjugated bilirubin

Raised urinary urobilinogen

Raised faecal stercobilinogen

Reticulocytosis

102
Q

Describe the epidemiology of hereditary spherocytosis

A

Most common hereditary haemolytic anaemia

Autosomal dominant

103
Q

Describe the pathophysiology of hereditary spherocytosis

A

Defect in red cell membrane resulting in spherocytosis and a subsequent decrease in the surface area to volume ratio of erythrocytes.

Spherocytes are more rigid and so are unable to pass through the splenic microcirculation - become trapped in the spleen

Cells have a shortened lifespan and are destroyed (haemolysis)

104
Q

Describe the investigations for hereditary spherocytosis

A

Blood film: spherocytes and reticulocytes

FBC: low Hb, raised reticulocytes

LFTs: raised bilirubin

Coomb’s test: negative (rules out autoimmune haemolytic anaemia)

105
Q

Describe the presentation of hereditary spherocytosis

A

Jaundice at birth

Anaemia

Splenomegaly

Leg ulcers

Gallstones (due to raised uric acid secondary to haemolysis)

106
Q

Describe the management of hereditary spherocytosis

A

Splenectomy (relieves symptoms)

Subsequently give vaccinations and prophylactic antibiotics due to reduced immune function following splenectomy.

107
Q

Describe the aetiology of G6PD deficiency

A

Heterogenous x-linked mutation (therefore more common in males)

108
Q

Describe the pathophysiology of G6PD deficiency

A

G6PD is normally vital to protect erythrocytes from oxidative damage, and so in deficiency there is a reduced erythrocyte lifespan

109
Q

What does G6PD stand for?

A

Glucose-6-phosphate dehydrogenase

110
Q

Describe the presentation of G6PD deficiency

A

Asymptomatic

Oxidative crisis

In attacks due to rapid intravascular haemolysis:
-Rapid anaemia
-Jaundice
-Chronic haemolytic anaemia
-Haemoglobinuria

111
Q

Describe the cause of oxidative crisis in G6PD deficiency

A

Reduction in glutathione production, precipitated by:
-Aspirin
-Antibiotics
-Fava beans

112
Q

Describe the investigations for G6PD deficiency

A

Blood count normal between attacks

Irregularly contracted cells

Bite cells (indentation in cell membrane)

Reticulocytosis

Low G6PD levels

113
Q

Describe the management of G6PD deficiency

A

Stop offending drugs

Blood transfusion

114
Q

Describe the aetiology of alpha thalassaemia

A

Defects in alpha globin chains due to genetic defect on chromosome 16

Autosomal recessive

115
Q

Describe the pathophysiology of thalassaemia

A

Defects in globin chains resulting in abnormal haemoglobin - underproduction of one globin chain

Red blood cells are more likely to be destroyed due to imbalanced globin chains (more a or b chains)

This results in splenomegaly

Bone marrow swells to increase erythropoiesis

Iron overload may occur

116
Q

Describe the aetiology of beta thalassaemia

A

Defect in beta globin chains due to mutation on chromosome 16

Autosomal recessive

Either abnormal copies of gene that retain some function or deletion genes where there is no function in beta globin chains.

117
Q

Describe beta thalassaemia minor

A

Carriers of abnormally functioning beta globin gene, with one normal and one abnormal gene

Causes a mild microcytic anaemia with no treatment usually required

118
Q

Describe beta thalassaemia intermedia

A

Two abnormal copies of the beta globin gene causing a more severe microcytic anaemia

May require blood transfusions - but not often

119
Q

Describe beta thalassaemia major

A

Homozygous deletion genes so no functioning beta globin chains at all

Usually presents in childhood with severe anaemia, failure to thrive

Manage with regular transfusions, splenectomy, bone marrow transplant

120
Q

Describe the presentation of thalassaemia

A

Microcytic anaemia

Fatigue

Pallor

Jaundice

Splenomegaly

Poor growth and development

Pronounced forehead and malar eminences (due to bone marrow overgrowth)

121
Q

Describe the investigations for thalassaemia

A

FBC - microcytic anaemia, reticulocytosis

Blood film: nucleated RBCs in peripheral circulation

Haemoglobin electrophoresis - diagnose globin abnormality

DNA testing

122
Q

Describe the management of thalassaemia

A

Regular life-long transfusions (if B thalassaemia major)

Iron chelation therapy (to prevent overload)

Splenectomy

Bone marrow transplant

123
Q

Describe the presentation of iron overload

A

Fatigue

Cirrhosis

Infertility and impotence

Heart failure

Arthritis

Diabetes

124
Q

Describe the management of iron overload

A

Iron chelation therapy:
-Oral deferiprone
-SC desderrioxamine
-Ascorbic acid (increases urinary excretion of iron)

125
Q

Describe the aetiology of sickle cell anaemia

A

Autosomal recessive disorder (25% chance of developing disease from 2 carrier parents, 50% chance of also being a carrier)

126
Q

Describe the pathophysiology of sickle cell anaemia

A

Abnormal B-globin chains

Single base mutation resulting in the production of sickle cell haemoglobin (HbS)

Manifests around 6 months (when all fetal haemoglobin is depleted)

HbS is insoluble and polymerises when deoxygenated, leading to RBC membrane rigidity and irreversible deformity into a sickled shape

This leads to shortened RBC survival and haemolysis, as well as impaired passage of cells through the microcitculation - causing obstruction, tissue infarction and intense pain

127
Q

Describe sickle cell trait

A

Heterozygous sickle cell disease (carrier)

Asymptomatic except in hypoxia when vaso-occlusive crises may occur

128
Q

Describe the presentation of sickle cell anaemia

A

Vaso-occlusive crises:
-Pain in long bones, hands and feet (due to AVN of bone marrow)
-CNS infarction

Acute chest syndrome:
-Vaso-occlusive crisis of pulmonary vasculature
-SOB, chest pain, hypoxia

Pulmonary hypertension

Anaemia - due to chronic haemolysis

Splenic sequestration - sickle cells trapped in the spleen resulting in acute painful enlargement

Aplastic crisis

129
Q

Describe the investigations for sickle cell anaemia

A

FBC: low Hb, raised reticulocytes

Blood film: sickled erythrocytes

Sickle solubility test positive

Haemoglobin electrophoresis - shows HbS

130
Q

Describe the management of sickle cell anaemia

A

Prophylactic vaccinations and folic acid supplementation
PO hydroxycarbamide (chemotherapy drug)

Acute painful attacks: IV fluid, analgesia, oxygen, antibiotics (if required)

Blood transfusion (in acute chest sybndrome, aplastic crisis, splenic sequestration)

131
Q

Describe the pathophysiology of aplastic anaemia

A

Rare stem cell disorder resulting in pancytopenia with hypocellularity of the bone marrow (marrow stops making cells)

Reduction in the number of pluripotent stem cells alongside a fault in those remaining, so they are unable to repopulate the bone marrow

132
Q

Describe the presentation of aplastic anaemia

A

Pancytopenia:
-Anaemia
-Infection
-Bleeding/bruising

133
Q

Describe the aetiology of aplastic anaemia

A

Inherited (e.g. Fanconi’s anaemia)

Idiopathic

Chemotherapy

134
Q

Which drugs can precipitate haemolysis in G6PD deficiency?

A

sulph- drugs:
-sulphonamides (e.g. acetazolamide)
-sulphasalazine
-sulfonylureas (e.g. gliclazide, glipizide)

135
Q

Which symptoms imply poor prognosis in lymphoma?

A

B’ symptoms imply a poor prognosis
-weight loss > 10% in last 6 months
-fever > 38ºC
-night sweats

136
Q

Which signs may be seen on a blood film in coeliac’s disease?

A

Target cells and Howell-Jolly bodies may be seen in coeliac disease

Secondary to hyposplenism

137
Q

What is the preferred anticoagulant for AF in those with renal impairment

A

Apixaban is the preferred NOAC for patients with renal impairment due to minimal renal drug clearance

138
Q

At what rate should RBCs be transfused in a non-urgent scenario?

A

In a non-urgent scenario, a unit of RBC is usually transfused over 90-120 minutes

139
Q

Describe the management of aplastic anaemia

A

Exclude other causes of pancytopenia (e.g. leukaemia)

Treat cause

Red cell and platelet transfusion

Bone marrow transplantation

Immunosuppressive therapy (e.g. ciclosporin)

140
Q

Describe the epidemiology of polycythaemia vera

A

Janus-kinase-2 (JAK-2) gene

Most common age >60

141
Q

Describe the presentation of polycythaemia vera

A

Clonal stem cell disorder resulting in malignant proliferation of a RBC clone derived from one pluripotent marrow stem cell.

The progenitor offspring do not require erythropoietin to avoid apoptosis, so there is excessive RBC proliferation resulting in raised haematocrit, hyperviscosity and thrombosis.

142
Q

Describe the presentation of polycythaemia vera

A

Asymptomatic

Headache

Pruritus (worse when warm, i.e. when in bath)

Burning sensation in fingertips/toes

Gout

Hepatosplenomegaly

143
Q

Describe the management of polycythaemia vera

A

Venesection

Chemotherapy - hydroxycarbamide

Low dose aspirin and allopurinol

FBC - for diagnosis

Bone marrow biopsy and genetic screen for JAK2

144
Q

Describe the aetiology of DVT

A

Immobility, surgery, leg fracture, COCP, long haul flight, malignancy.

Factor V Leiden

Anti-phospholipid syndrome

145
Q

Describe the diagnosis of DVT

A

D-dimer: elevated (normal result excludes DVT but a raised result does not confirm)

Compression ultrasound (in DVT you will not be able to compress the popliteal vein)

Doppler ultrasound

146
Q

Describe the presentation of DVT

A

Painful, tender, red, swollen, hot calf

Engorged superficial veins

Ankle oedema

Sx of pulmonary embolism

147
Q

Describe the management of DVT

A

LMWH - e.g. enoxaparin

Oral DOAC (or warfarin) for 6 months

Compression stockings

IVC filter if recurrent

148
Q

Describe the pathophysiology of ITP

A

Thrombocytopenia occurring secondary to immune destruction of platelets

149
Q

Describe the presentation of primary ITP

A

Children - acute onset

Mucocutaneous bleeding, sudden self-limiting purpura

May follow infection or recent vaccination

150
Q

Describe the presentation of secondary ITP

A

Adults - chronic

Often associated with other autoimmune disorders (plus CLL and HIV)

150
Q

Describe the presentation of secondary ITP

A

Adults - chronic

Often associated with other autoimmune disorders (plus CLL and HIV)

151
Q

Describe the general presentation of ITP

A

Easy bruising

Epistaxis

Menorrhagia

Gum bleeding

Purpura - red or purple skin spots due to bleeding underneath

152
Q

Describe the diagnosis of ITP

A

Bone marrow aspiration - thrombocytopenia

Platelet autoantibodies

153
Q

Describe the management of ITP

A

1st line: corticosteroids (prednisolone), IV Ig

2nd line: splenectomy, immunosuppressant (e.g. azathioprine)

154
Q

Summarise disseminated intravascular coagulation

A

Bleeding disorder in response to illness or disease which result in dysregulated blood clotting.

There is a tendency to both paradoxical bleeding and clotting simultaneously despite the usual balance.

155
Q

Describe the pathophysiology of DIC

A

Develops alongside pre-existing condition (e.g. malignancy)

Intravascular activation of the coagulation cascade.

Microvascular thrombosis occurs which can cause multi-organ failure secondary to ischaemia.

Subsequent ‘consumptive coagulopathy’ - lack of clotting factors as they are all being used up elsewhere - leads to thrombocytopenia and increased risk of bleeding.

156
Q

Describe the presentation of DIC

A

Bleeding from unusual sites (e.g. ears, nose, GI/GU tracts, sites of venepuncture/cannulation)

Widespread bruising

New confusion/disorientation cerebral hypoperfusion)

Petechiae, purpura, localised infection of digits, hypotension.

157
Q

Describe the management of DIC

A

Supportive care (e.g. platelet transfusion)

Treat underlying cause

158
Q

Describe the inheritance pattern seen in haemophilia A

A

X-linked recessive - so more common in males

Mother usually a carrier.

159
Q

Describe the presentation of haemophilia A

A

Neonates and young children - may be fatal from acute intra-cranial bleed

Haematoma/haemarthrosis/GI haemorrhage

Excessive bleeding after procedures and trauma

160
Q

Describe the pathophysiology of haemophilia A

A

Factor VIII deficiency

Von Willebrand’s disease also affects factor VIII, but indirectly. vWF helps prolong the life of factor VIII.

161
Q

Describe the diagnosis of haemophilia A

A

Prolonged APTT (PT normal), low factor VIII

162
Q

Describe the management of haemophilia A

A

Prevent acute bleeding:
-Prophylactic factor VIII infusion
-Avoid NSAIDs, IM injection, contact sports etc.

Acute bleeding episodes:
-Factor VIII infusion, FFP or recombinant factor VIII
-Tranexamic acid (antifibrinolytic)
-Desmopressin (mbolises stored factor VIII)

163
Q

Describe the inheritance pattern seen in haemophilia B

A

X-linked recessive

Rarer than haemophilia A and von Willebrand disease

164
Q

Describe the difference in presentation between clotting and platelet disorders

A

Clotting: haematoma, haemarthrosis etc

Platelet: petechiae, purpura, bruising

165
Q

Describe the pathophysiology of haemophilia B

A

Deficiency in factor IX

166
Q

Describe the presentation of haemophilia B

A

Haemorrhage with minor trauma and surgical procedures (incl. dental procedures)

Spontaneous haemorrhage (e.g. haemarthrosis, ICH, epistaxis)

167
Q

Describe the diagnosis of haemophilia B

A

Prolonged APTT (PT normal)

Factor IX deficiency with normal factor VIII and vWF

Imaging in acute bleeds

168
Q

Describe the management of haemophilia B

A

Acute bleeds:
-Recombinant factor IX

Long-term management:
-Prophylactic factor IX infusion
-Avoid IM injection, contact sports
-Hep A/B injection due to risk of contracting from FFP

169
Q

Describe the life expectancy in haemophilias

A

Normal - if treated

170
Q

Describe the inheritance pattern seen in haemochromatosis

A

Autosomal recessive disorders of iron metabolism

Mutations in C282Y gene

171
Q

Describe the pathophysiology of haemochromatosis

A

Genetic defect results in excessive iron absorption from the diet with subsequent accumulation in the tissues.

172
Q

Describe the presentation of haemochromatosis

A

Dark skin discolouration

Malaise, lethargy, weakness

Erectile dysfunction

Liver disease (due to hepatic involvement) - cirrhosis, HCC

Diabetes (due to pancreatic involvement)

Arthritis, heart failure, neurological signs

173
Q

Describe the diagnosis of haemochromatosis

A

Raised ferritin, raised serum iron

Deranged LFTs - consider liver biopsy

Genetic testing

174
Q

Describe the management of haemochromatosis

A

Exclude iron overload anaemia (sideroblastic, thalassaemia)

Venesection

Avoid alcohol, iron supplements and Vit C.

Liver transplantation

Finals (11 decks)

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