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Phase 2a Conditions > Haematology > Flashcards

Haematology Flashcards

1
Q

What is the definition of iron deficiency anaemia?

A

A reduction in haemoglobin concentrations due to inadequate iron supply

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2
Q

What is the aetiology of iron deficiency anaemia?

A

Blood loss (haemorrhage, GI bleeding or heavy menstruation), poor diet or poverty in children, and malabsorption in coeliac disease

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3
Q

What is the clinical presentation of iron deficiency anaemia?

A

Fatigue, dyspnoea on exertion, pica (craving for non-food substances), restless leg syndrome, nail changes (thinning, flattening, and then spooning of the nails (koilonychia)), glossitis and angular stomatitis

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4
Q

What are the investigations of iron deficiency anaemia?

A 
o	Haemoglobin: low
o	MCV: low
o	Peripheral blood smear: microcytic, hypochromic anaemia, with anisocytosis and poikilocytosis (variation in size and shape)
o	Iron studies:
	oDecreased ferritin
	oDecreased serum iron
	oIncreased TIBC (serum transferrin)
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5
Q

What is the treatment of iron deficiency anaemia?

A

Oral iron replacement (ferrous sulfate), ascorbic acid (vitamin C) to help with the absorption of non-haem iron, IV iron

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6
Q

What is the definition of anaemia of chronic disease?

A

Inflammation-mediated reduction in red blood cell production and survival

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7
Q

What is the pathophysiology of anaemia of chronic disease?

A

The release of proinflammatory cytokines trigger systemic changes in iron metabolism by decreasing red cell production and reducing red blood cell survival

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8
Q

What is the clinical presentation of anaemia of chronic disease?

A

Systemic symptoms of underlying condition

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9
Q

What are the investigations of anaemia of chronic disease?

A

o Haemoglobin: low
o MCV: initially normocytic, then microcytic as iron is depleted
o Iron studies:
oDecreased serum iron
oElevated serum ferritin (stored iron cannot be utilised)
oDecreased TIBC

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10
Q

What is the treatment of anaemia of chronic disease?

A

Treatment of underlying condition, erythropoietin, red blood cell transfusion, supplemental iron

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11
Q

What is the definition of sideroblastic anaemia?

A

The bone marrow produces ringed sideroblasts rather than healthy red blood cells

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12
Q

What is the aetiology of sideroblastic anaemia?

A

Congenital, myeloproliferative diseases, chemotherapy, anti-TB drugs, irradiation, alcohol, lead excess

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13
Q

What is the pathophysiology of sideroblastic anaemia?

A

The body has sufficient iron, but it cannot be incorporated into haemoglobin. There is an accumulation of iron in the mitochondria of erythroblasts which results in a ring sideroblast around the mitochondrial nucleus

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14
Q

What is the clinical presentation of sideroblastic anaemia?

A

Fatigue, dyspnoea on exertion, weakness, palpitations, headaches, irritability, chest pain

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15
Q

What are the investigations of sideroblastic anaemia?

A

o Haemoglobin: low
o MCV: low
o Iron studies:
oElevated ferritin
oDecreased TIBC
o Peripheral blood smear: microcytic, hypochromic anaemia with basophilic stippling
o Bone marrow aspirate: ringed sideroblasts

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16
Q

What is the treatment of sideroblastic anaemia?

A

Cessation of the offending agent, pyridoxine (vitamin B6)

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17
Q

What is the definition of beta thalassemia?

A

Inherited microcytic anaemia caused by a mutation of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis

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18
Q

What is the aetiology of beta thalassemia?

A

Mutation in the beta globin gene on chromosome 11

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19
Q

What is the pathophysiology of beta thalassemia?

A

The imbalance between alpha and beta chains leads to precipitation of the excess alpha chains in erythroid precursors and maturing red cells, resulting in membrane damage and cell destruction

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20
Q

What is the clinical presentation of beta thalassemia?

A

Asymptomatic, failure to feed, listlessness, crying, pallor

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21
Q

What are the investigations of beta thalassemia?

A

o Haemoglobin: severely low, 30-70 g/L
o MCV: severe microcytic anaemia
o Haemoglobin analysis (low HbA, elevated HbF and HbA2)
o Peripheral blood smear: microcytic red cells, dacrocytes (tear drops), microspherocytes, target cells
o PCR: beta-thalassaemia mutation

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22
Q

What is the treatment of beta thalassemia?

A

Blood transfusions

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23
Q

What is the definition of sickle cell anaemia?

A

Autosomal recessive single gene defect in the beta chain of haemoglobin, which results in production of sickle cell haemoglobin, HbS

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24
Q

What is the pathophysiology of sickle cell anaemia?

A

Valine replaces glutamic acid and can fit into the hydrophobic pocket of another haemoglobin molecule, causing the haemoglobin to polymerise

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25
Q

What is the clinical presentation of sickle cell anaemia?

A

Persistent pain in skeleton, chest and/or abdomen, dactylitis

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26
Q

What are the investigations of sickle cell anaemia?

A

o Positive neonatal screening
o Peripheral blood smear: nucleated red blood cells, sickle-shaped cells, Howell-Jolly bodies
o DNA-based assay: replacement of both beta haemoglobin subunits with HbS
o Reticulocyte count: elevated

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27
Q

What is the treatment of sickle cell anaemia?

A

o Crisis: analgesia, IV fluids, oxygen, and antibiotics

o Long-term: Hydroxycarbamide, folic acid, bone marrow transplantation

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28
Q

What is the definition of glucose-6-phospahte dehydrogenase deficiency?

A

X-linked recessive disorder which leads to a deficiency in the glucose-6-phosphate dehydrogenase enzyme

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29
Q

What is the pathophysiology of glucose-6-phospahte dehydrogenase deficiency?

A

Glucose-6-phosphate dehydrogenase is required by all cells to protect them from damage by oxidation. Failure to withstand oxidative stress damages the red cell membrane and causes haemolysis

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30
Q

What are the triggers of glucose-6-phospahte dehydrogenase deficiency?

A

Oxidants (fava beans), infections, drugs (primaquine, sulphonamides, nitrofurantoin, quinolones), and mothballs which contain naphthalene

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31
Q

What is the clinical presentation of glucose-6-phospahte dehydrogenase deficiency?

A

Asymptomatic, haemolysis, jaundice, anaemia, pallor, back pain, dark urine, nausea

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32
Q

What are the investigations of glucose-6-phospahte dehydrogenase deficiency?

A

o Haemoglobin: low
o Reticulocyte count: elevated
o Peripheral blood smear (during a crisis): Bite cells, blister cells, Heinz bodies
o Enzyme assay: reduced glucose-6-phosphate dehydrogenase activity

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33
Q

What is the treatment of glucose-6-phospahte dehydrogenase deficiency?

A

Avoidance of oxidant factors, transfusions, folic acid

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34
Q

What is the definition of hereditary spherocytosis?

A

Inherited abnormality of the red blood cell, caused by defects in structural membrane proteins

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35
Q

What is the pathophysiology of hereditary spherocytosis?

A

Defects in membrane structural proteins result in a weakening of vertical linkages between membrane surface proteins and the phospholipid bilayer. This alters the red-cell shape, becoming spherical, and reduces its flexibility. The spherocytes are fragile and are selectively removed by, and destroyed in, the spleen

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36
Q

What is the clinical presentation of hereditary spherocytosis?

A

Pallor, jaundice, splenomegaly

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37
Q

What are the investigations of hereditary spherocytosis?

A

o Haemoglobin: normal or reduced
o Reticulocyte count: elevated
o Peripheral blood smear: spherocytes, pincer cells
o Osmotic fragility test: fragility in hypotonic solutions

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38
Q

What is the treatment of hereditary spherocytosis?

A

Splenectomy (after childhood to minimise the risk of infection), folic acid

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39
Q

What is the definition of hot autoimmune haemolytic anaemia?

A

Increased red cell destruction due to red cell autoantibodies

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40
Q

What is the aetiology of hot autoimmune haemolytic anaemia?

A

Idiopathic or occur secondary to lymphoma, leukaemia and other malignancies, drugs, and autoimmune diseases

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41
Q

What is the pathophysiology of hot autoimmune haemolytic anaemia?

A

IgG autoantibodies bind optimally to red blood cells at warm temperatures (37 ºC). This results in extravascular haemolysis in the spleen

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42
Q

What is the clinical presentation of hot autoimmune haemolytic anaemia?

A

Fatigue, dyspnoea, headache, palpitations, pallor

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43
Q

What are the investigations of hot autoimmune haemolytic anaemia?

A

o Haemoglobin: low
o Reticulocyte count: elevated
o Direct Coombs Test: positive for IgG on red blood cells

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44
Q

What is the treatment of hot autoimmune haemolytic anaemia?

A

Corticosteroids, splenectomy, rituximab, folic acid, transfusions

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45
Q

What is the definition of cold autoimmune haemolytic anaemia?

A

Increased red cell destruction due to red cell autoantibodies

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46
Q

What is the aetiology of cold autoimmune haemolytic anaemia?

A

Idiopathic, secondary to infection

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47
Q

What is the pathophysiology of cold autoimmune haemolytic anaemia?

A

IgM autoantibodies bind optimally to red blood cells at cold temperatures (0-5 ºC), activating the complement cascade and causing lysis of red blood cells in the circulation

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48
Q

What is the clinical presentation of cold autoimmune haemolytic anaemia?

A

Fatigue, dyspnoea, headache, palpitations, pallor

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49
Q

What are the investigations of cold autoimmune haemolytic anaemia?

A

o Haemoglobin: low
o Reticulocyte count: elevated
o Direct Coombs Test: positive for complement alone

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50
Q

What is the treatment of cold autoimmune haemolytic anaemia?

A

Avoid exposure to cold, rituximab

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51
Q

What is the definition of aplastic anaemia?

A

Bone marrow failure causes a reduction in the number of pluripotent stem cells and consequently a lack of haemopoiesis

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52
Q

What is the pathophysiology of aplastic anaemia?

A

Activated cytotoxic T cells in the blood and bone marrow are responsible for the bone marrow failure

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53
Q

What is the clinical presentation of aplastic anaemia?

A

Fatigue, dyspnoea, faintness, palpitations, headache, epistaxis, tachycardia, pallor

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54
Q

What are the investigations of aplastic anaemia?

A

o FBC: pancytopenia
o Reticulocyte count: low
o Bone marrow biopsy: hypocellular marrow with increased fat spaces and no abnormal cell populations

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55
Q

What is the treatment of aplastic anaemia?

A

Broad spectrum parenteral antibodies, transfusions, bone marrow transplant, immunosuppression (ciclosporin and antithymocyte)

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56
Q

What is the aetiology of vitamin B12 deficiency anaemia?

A

Decreased dietary intake, diminished gastric breakdown of vitamin 12 from food, and malabsorption from the GI tract, pernicious anaemia (autoimmune destruction of the parietal cells?

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57
Q

What is the pathophysiology of vitamin B12 deficiency anaemia?

A

Vitamin B12 is required for the synthesis of thymine and hence DNA

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58
Q

What is the clinical presentation of vitamin B12 deficiency anaemia?

A

Lemon tinge (due to pallor and mild jaundice), peripheral neuropathy, fatigue, lethargy, headaches, palpitations, dyspnoea

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59
Q

What are the investigations of vitamin B12 deficiency anaemia?

A

o Haemoglobin: low
o MCV: elevated
o Peripheral blood smear: macrocytic cells with hypersegmented neutrophils
o Serum vitamin B12: decreased
o Intrinsic factor and anti-parietal cell antibodies: positive in pernicious anaemia
o Schilling test (B12 absorption test): low in pernicious anaemia

60
Q

What is the treatment of vitamin B12 deficiency anaemia?

A

Oral B12, intramuscular hydroxocobalamin

61
Q

What is the aetiology of folate deficiency anaemia?

A

Malabsorption, drugs and toxins, increased demand (during pregnancy, haemolysis, malignancy, inflammatory disease, and renal dialysis), dietary deficiency (green vegetables), or alcohol use

62
Q

What is the clinical presentation of folate deficiency anaemia?

A

Asymptomatic, headache, no neuropathy

63
Q

What are the investigations of folate deficiency anaemia?

A 
o	Haemoglobin: low
o	MCV: elevated
o	Peripheral blood smear: oval macrocytic cells with hypersegmented neutrophils
o	Serum or red cell folate: low
o	Serum B12 (to assess level)
64
Q

What is the treatment of folate deficiency anaemia?

A

Folic acid (5 mg of folic daily for 4 months), if B12 deficiency, B12 should be corrected first

65
Q

What is the definition of deep vein thrombosis?

A

Development of a blood clot in a major deep vein in the leg, thigh, pelvis, or abdomen

66
Q

What is the clinical presentation of deep vein thrombosis?

A

Asymptomatic, unilateral calf swelling, localised pain along the deep venous system

67
Q

What are the investigations of deep vein thrombosis?

A

o D-dimer: elevated (but not specific)

o Proximal leg vein ultrasound: unable to compress lumen

68
Q

What is the treatment of deep vein thrombosis?

A

Anti-coagulation (apixaban, rivaroxaban, LMWH, fondaparinux)

69
Q

What is the definition of acute myeloid leukaemia?

A

Malignant clonal expansion of myeloid progenitors in the bone marrow, peripheral blood, or extramedullary tissues

70
Q

What is the aetiology of acute myeloid leukaemia?

A

Pre-existing haematologic malignancies

71
Q

What is the clinical presentation of acute myeloid leukaemia?

A

Anaemia (fatigue, breathlessness, angina, pallor), neutropenia (recurrent infections), thrombocytopenia (petechiae, nose bleeds, bruising)

72
Q

What are the investigations of acute myeloid leukaemia?

A

o FBC: leucocytosis with neutropenia, thrombocytopenia, anaemia
o Peripheral blood smear: blast cells, with the presence of Auer rods (crystalised granules)
o Bone marrow aspirate and biopsy: myeloid blast count of ≥ 20%

73
Q

What is the treatment of acute myeloid leukaemia?

A

Supportive treatment (blood and platelet transfusions, IV fluids, allopurinol (to prevent tumour lysis syndrome)), chemotherapy, bone marrow transplant

74
Q

What is the definition of acute lymphoblastic leukaemia?

A

Malignant clonal expansion of lymphoid progenitors in the bone marrow

75
Q

What is the epidemiology of acute lymphoblastic leukaemia?

A

Under the age of 5

76
Q

What is the clinical presentation of acute lymphoblastic leukaemia?

A

Anaemia (fatigue, breathlessness, angina, pallor), neutropenia (recurrent infections), thrombocytopenia (petechiae, nose bleeds, bruising)

77
Q

What are the investigations of acute lymphoblastic leukaemia?

A

o FBC: leucocytosis with neutropenia, thrombocytopenia, anaemia
o Peripheral blood smear: blast cells
o Bone marrow aspirate and biopsy: lymphoblast count of ≥ 20%

78
Q

What is the treatment of acute lymphoblastic leukaemia?

A

Supportive treatment (blood and platelet transfusions, IV fluids, allopurinol (to prevent tumour lysis syndrome)), chemotherapy, intrathecal chemotherapy (for CNS involvement), bone marrow transplant

79
Q

What is the definition of chronic myeloid leukaemia?

A

Clonal myeloproliferative neoplasm characterised by abnormal clonal expansion of cells of the myeloid lineage (neutrophils, basophils, eosinophils, and monocytes)

80
Q

What is the aetiology of chronic myeloid leukaemia?

A

Philadelphia chromosome (t9;22)

81
Q

What is the pathophysiology of chronic myeloid leukaemia?

A

Excessive activity of the enzyme tyrosine kinase which leads to unregulated cell division

82
Q

What is the clinical presentation of chronic myeloid leukaemia?

A

Asymptomatic, anaemia (breathlessness, pallor, fatigue), hepatosplenomegaly, night sweats, fever, gout (due to purine breakdown)

83
Q

What are the investigations of chronic myeloid leukaemia?

A

o FBC: marked leukocytosis (increased neutrophils, monocytes, basophils, and eosinophils), anaemia
o Peripheral blood smear: mature or maturing myeloid cells, elevated neutrophils, basophils and eosinophils
o Bone marrow aspirate and biopsy: hypercellular, granulocytic hyperplasia
o Cytogenetics: Philadelphia chromosome positive

84
Q

What is the treatment of chronic myeloid leukaemia?

A

Oral imatinib (tyrosine kinase inhibitor), bone marrow transplantation

85
Q

What is the definition of chronic lymphocytic leukaemia?

A

Malignant clonal expansion of B lymphocytes in the bone marrow

86
Q

What is the clinical presentation of chronic lymphocytic leukaemia?

A

Asymptomatic

87
Q

What are the investigations of chronic lymphocytic leukaemia?

A

o FBC: marked lymphocytosis, hypogammaglobulinemia, anaemia, thrombocytopenia
o Peripheral blood smear: smudge cells
o Flow cytometry: clonal lymphocytes

88
Q

What is the treatment of chronic lymphocytic leukaemia?

A

Observation, supportive treatment (transfusions, steroids for haemolytic anaemia, and human IV immunoglobulins), chemotherapy, bone marrow transplant

89
Q

What is the definition of Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes in the lymph nodes characterised by the presence of Reed-Sternberg cells

90
Q

What is the aetiology of Hodgkin’s lymphoma?

A

EBV, immunosuppression

91
Q

What is the pathophysiology of Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes, usually B lymphocytes, but also T lymphocytes and natural killer cells, leads to the accumulation of cells in the lymph nodes causing lymphadenopathy

92
Q

What is the clinical presentation of Hodgkin’s lymphoma?

A

Lymphadenopathy (painless, symmetric, multiple sites, spreads discontinuously), B symptoms (fever, weight loss night sweats), pruritus, lethargy, pain in the neck when drinking alcohol

93
Q

What are the investigations of Hodgkin’s lymphoma?

A

Lymph node and bone marrow biopsy: Reed-Sternberg cells (mirror image nuclei), in classical Hodgkin’s lymphoma, and popcorn cells in nodular lymphocyte-predominant Hodgkin’s

94
Q

What is the treatment of Hodgkin’s lymphoma?

A

o Stages IA-IIA: radiotherapy + short courses of chemotherapy
o Stages IIA-IVB (with >3 areas involved): longer courses of chemotherapy
o Relapsed disease: high-dose chemotherapy followed by autologous stem cell transplant

95
Q

What is the definition of Non-Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes, 80% are of B lymphocyte origin, while 20% is of T lymphocyte origin

96
Q

What is the aetiology of Non-Hodgkin’s lymphoma?

A

Viruses and bacteria, autoimmune disorders, immunodeficiency, and environmental factors, such as pesticides

97
Q

What is the pathophysiology of Non-Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes leads to the accumulation of cells in the lymph nodes causing lymphadenopathy

98
Q

What is the clinical presentation of Non-Hodgkin’s lymphoma?

A

Lymphadenopathy (enlarged, non-tender, rubbery superficial lymph nodes)

99
Q

What are the investigations of Non-Hodgkin’s lymphoma?

A

o FBC: pancytopenia

o Lymph node and bone marrow biopsy: absence of Reed-Sternberg cells

100
Q

What is the treatment of Non-Hodgkin’s lymphoma?

A

o Low-grade (incurable): radiotherapy (curative in localised disease), chemotherapy, remission maintained by rituximab
o High-grade: R-CHOP chemotherapy, radiotherapy

101
Q

What is the definition of multiple myeloma?

A

Plasma cell dyscrasia characterised by terminally differentiated plasma cells, infiltration of the bone marrow by plasma cells, and the presence of a monoclonal immunoglobulin or immunoglobulin fragment in the serum and/or urine

102
Q

What is the pathophysiology of multiple myeloma?

A

Accumulation of malignant plasma cells in the bone marrow which leads to progressive bone marrow failure. The malignant clone of plasma cells can secrete excess amounts of a monoclonal antibody, known as monoclonal paraprotein, and is usually IgG or IgA

103
Q

What is the clinical presentation of multiple myeloma?

A

o Hypercalcaemia (confusion, bone pain, constipation, nausea, thirst, abdominal pain)
o Renal failure (thirst, nausea, itching, confusion, fatigue)
o Anaemia (shortness of breath, pallor, fatigue), neutropenia (infection), and thrombocytopenia (bleeding)
o Osteolytic bone lesions (backache, bone pain, pathological fractures, vertebral collapse)

104
Q

What are the investigations of multiple myeloma?

A

o FBC: pancytopenia
o U&E: elevated calcium and alkaline phosphatase
o Peripheral blood smear: Rouleaux formation
o Serum electrophoresis: elevated paraprotein and hypogammaglobulinemia
o Urine electrophoresis: elevated Bence-Jones protein
o Bone marrow aspirate and biopsy: monoclonal plasma cell infiltration in the bone marrow ≥ 10%

105
Q

What is the treatment of multiple myeloma?

A

Chemotherapy, analgesia, bisphosphonates, bone marrow transplant

106
Q

What is the definition of malaria?

A

Parasitic infection caused by protozoa of the genus Plasmodium

107
Q

What is the aetiology of malaria?

A

Bite of a female Anopheles mosquito

108
Q

What is the clinical presentation of malaria?

A

Fever, anaemia, jaundice, hepatosplenomegaly, black urine, headache, myalgia, fatigue, malaise, diarrhoea, vomiting, abdominal pain

109
Q

What are the investigations of malaria?

A

o Giemsa-stained thick and thin blood smears: detection of asexual or sexual forms of the parasites inside erythrocytes (thick film tells indicates malaria is present, while thin films identify the species)
o Rapid diagnostic test: detection of parasite antigen or enzymes

110
Q

What is the treatment of malaria?

A

Artemisinin combination therapies, chloroquine (patients with G6PDD require specialised assessment)

111
Q

What is the definition of polycythaemia vera?

A

Myeloproliferative, clonal hematopoietic disorder characterised clinically by erythrocytosis, thrombocytosis, leukocytosis, and splenomegaly

112
Q

What is the aetiology of polycythaemia vera?

A

JAK2 mutation

113
Q

What is the pathophysiology of polycythaemia vera?

A

The erythroid progenitor offspring are unusual in not needing erythropoietin to avoid apoptosis. This results in the excess proliferation of red blood cells, white blood cells and platelets which causes a raised haematocrit

114
Q

What is the clinical presentation of polycythaemia vera?

A

Asymptomatic, headache, dizziness, tinnitus, visual disturbances, pruritus after a hot bath, erythromelalgia (burning sensation in fingers and toes), gout, hypertension, angina, intermittent claudication, plethoric complexion (congested or swollen with blood in facial skin), hepatosplenomegaly

115
Q

What are the investigations of polycythaemia vera?

A

o FBC: erythrocytosis, thrombocytosis, leukocytosis
o Haematocrit: elevated
o JAK2 gene mutation screen: positive
o Serum erythropoietin: low
o Bone marrow biopsy: hypercellularity with prominent erythroid, granulocytic, and megakaryocytic proliferation

116
Q

What is the treatment of polycythaemia vera?

A

Venesection, hydroxycarbamide, aspirin

117
Q

What is the definition of von Willebrand disease?

A

Quantitative or qualitative abnormality of von Willebrand factor

118
Q

What is the aetiology of von Willebrand disease?

A

Mutation in the von Willebrand factor gene

119
Q

What is the pathophysiology of von Willebrand disease?

A

von Willebrand factor links platelets and exposed vascular subendothelium at sites of vascular injury, and binds and stabilises coagulation factor VIII

120
Q

What is the clinical presentation of von Willebrand disease?

A

Bleeding from minor wounds, postoperative bleeding, easy and excessive bruising, menorrhagia, mucosal bleeding, epistaxis

121
Q

What are the investigations of von Willebrand disease?

A

o FBC: normal platelets
o Prothrombin time: prolonged
o Plasma von Willebrand factor: low

122
Q

What is the treatment of von Willebrand disease?

A

Care when using NSAIDs and anti-platelets, desmopressin (induces von Willebrand factor release), tranexamic acid (controls bleeding)

123
Q

What is the definition of immune thrombocytopenic purpura?

A

Isolated thrombocytopenia due to autoimmune antibody destruction of peripheral platelets

124
Q

What is the clinical presentation of immune thrombocytopenic purpura?

A

Easy bruising, epistaxis, menorrhagia, purpura, gum bleeding

125
Q

What are the investigations of immune thrombocytopenic purpura?

A

o FBC: thrombocytopenia

o Platelet autoantibodies: positive

126
Q

What is the treatment of immune thrombocytopenic purpura?

A

o Childhood: usually requires no treatment as it is self-limiting
o Adult: oral corticosteroids, splenectomy, rituximab

127
Q

What is the aetiology of thrombotic thrombocytopenic purpura?

A

Production of unusually large von Willebrand factor multimers due to a lack of von Willebrand factor cleaving enzyme (ADAMTS-13) or the presence of autoantibodies against the enzyme. Secondary causes of TTP include pregnancy, oral contraceptives, systemic lupus erythematosus, infection, and drug treatment.

128
Q

What is the pathophysiology of thrombotic thrombocytopenic purpura?

A

Platelets adhere to the von Willebrand factor and microthrombi form. The microthrombi cause end-organ ischaemia, especially in the brain and kidneys, and fragmentation of red blood cells

129
Q

What is the clinical presentation of thrombotic thrombocytopenic purpura?

A

o Flu-like symptoms (fever, fatigue, arthralgia)
o Microangiopathic haemolytic anaemia (fatigue, dyspnoea, pallor, jaundice)
o Thrombocytopenia (petechiae, purpura)
o Acute kidney injury
o Neurological symptoms (headache, palsies, seizure, confusion, coma)

130
Q

What are the investigations of thrombotic thrombocytopenic purpura?

A

o FBC: anaemia, thrombocytopenia
o Lactate dehydrogenase: elevated due to haemolytic anaemia
o Peripheral blood smear: microangiopathic blood film with schistocytes
o ADAMTS-13 activity assay: low

131
Q

What is the treatment of thrombotic thrombocytopenic purpura?

A

Plasma exchange to remove antibodies against ADAMTS-13 and provide a source of the enzyme, corticosteroids to suppression the immune system

132
Q

How is Haemolytic uraemia syndrome different to thrombotic thrombocytopenic purpura?

A

There are no neurological symptoms or fever and it usually affects children under the age of five following a diarrhoeal disease

133
Q

What is the definition of Haemophilia?

A

X-linked recessive disorder, which results from the deficiency of clotting factor VIII in Haemophilia A and clotting factor IX in Haemophilia B

134
Q

What is the clinical presentation of Haemophilia?

A

Bleeding into muscles, mucocutaneous bleeding, hemarthrosis, excessive bruising, fatigue

135
Q

What are the investigations of Haemophilia?

A

o APTT: prolonged
o Plasma factor VIII assay: low in haemophilia A
o Plasma factor IX assay: low in haemophilia B

136
Q

What is the treatment of Haemophilia?

A

Avoid NSAIDs and IM injections, desmopressin (in haemophilia A), factor concentrations should be given prophylactically

137
Q

What is the definition of disseminated intravascular coagulation?

A

Acquired syndrome characterised by activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors

138
Q

What is the aetiology of disseminated intravascular coagulation?

A

Major trauma, organ destruction, sepsis or severe infection, severe obstetric disorders, some malignancies, major vascular disorders, and severe toxic or immunologic reactions

139
Q

What is the clinical presentation of disseminated intravascular coagulation?

A

Oliguria, hypotension, tachycardia, purpura fulminans, gangrene, acral cyanosis, delirium or coma, petechiae, ecchymosis, haematuria, bruising, renal failure

140
Q

What are the investigations of disseminated intravascular coagulation?

A 
o	FBC: thrombocytopenia
o	PTT: prolonged
o	APTT: prolonged
o	Fibrinogen: decreased
o	D-dimer and fibrin degradation products: elevated
141
Q

What is the treatment of disseminated intravascular coagulation?

A

Treat the underlying cause, platelets, cryoprecipitate, heparin (in severe, non-bleeding patients)

142
Q

What is the aetiology of vitamin K deficiency?

A

Decreased intake, malabsorption (decreased bile), oral anti-coagulants

143
Q

What is the pathophysiology of vitamin K deficiency?

A

Vitamin K is an important factor in the synthesis of coagulation factors II, VII, IX and X, and proteins C and S

144
Q

What is the clinical presentation of vitamin K deficiency?

A

Petechiae, purpura, easy bruising, gingival bleeding, melena, haematuria

145
Q

What are the investigations of vitamin K deficiency?

A

o PTT: prolonged

o Serum vitamin K: low

146
Q

What is the treatment of vitamin K deficiency?

A

Increased vitamin K intake

Phase 2a Conditions (9 decks)

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