Haematology Flashcards

Question

Pathophysiology of amyloidosis?

Answer 1

Systemic dissemination of protein deposits Focal deposition such as cerebral deposition in alzheimers disease

Answer 2

Primary; AL amyloidosis due to deposition of monoclonal light chains in tissues Secondary; AA amyloidosis due to underlying chronic inflammatory conditions such as malignancy, chronic microbial infection affecting any organ not the brain related to high density lipoprotein

Answer 3

Kidneys – nephrotic syndrome/renal failure Gastrointestinal system – macroglossia, malabsorption or hepatosplenomegaly Neurological system – neuropathies Vasculature – periorbital purpura ("racoon eyes") Joints – painful asymmetrical large joint inflammation Features of AA amyloidosis; Nephrotic syndrome (one-third of patients) Neuropathy (usually sensory and symmetrical) Cardiomyopathy (usually restrictive in nature) Hepatomegaly Autonomic neuropathy Features of AL amyloidosis; Proteinuria with and without nephrotic syndrome, plus uraemia – 50% of patients die of renal failure if not treated with dialysis Visceromegaly (spleen, liver and kidneys) is common

Answer 4

Tissue biopsy; apple green bifringence when stained with congo red and viewed under polarised light Radio labelled serum amyloid P scan Echo, ECG, BNP, proteinuria, serum free light chains, monocloncal immunoglobulins, prothrombin time, APTT

Answer 5

Guidance from national amyloid centre in London Manage cardiac, gastrointestinal and renal complications In AA amyloid; manage chronic infection and inflammation In AL amyloid; dexamethasone and bortezomib In hereditary amyloid consider hepatic transplantation

Answer 6

Low haemoglobin levels, decreased erythrocyte production and altered iron metabolism in response to chronic inflammatory/ infectious/ autoimmune or malignancy

Answer 7

Inflammatory Conditions: Rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Chronic Infections: Tuberculosis, HIV, and osteomyelitis. Malignancies: Leukaemia, lymphoma, and solid tumours. Chronic Kidney Disease: Impaired erythropoietin production and iron metabolism. Autoimmune Disorders: Systemic inflammation can lead to ACD. Chronic Liver Disease: Hepcidin release is altered, impacting iron regulation.

Answer 8

Chronic inflammation increases IL-1, IL-6. IL-6 stimulates release of hepcidin from liver which inhibits iron absorption by reducing activity of ferroportin leading to decreased haemoglobin production

Answer 9

Basolateral surface of gut enterocytes and plasma membrane of reticuloendothelial cells

Answer 10

Fatigue Weakness Pallor Shortness of breath Rapid heartbeat Anorexia and weight loss Frequent infections due to increased susceptibility Mild splenomegaly (rare)

Answer 11

Iron deficiency anaemia Haemolytic anaemia Vitamin B12 and folate deficiency Chronic kidney disease Bone marrow disorders

Answer 12

FBC; low Hb, low MCV Blood film; normocytic normochromic Iron studies CRP Bone marrow aspiration and biopsy

Answer 13

Treat underlying medical condition Consider EPO agents

Answer 14

Bone marrow failure leading to a significant reduction in the production of all types of blood cells causing pancytopenia

Answer 15

Atleast 2 of the following; Anaemia: haemoglobin <10 g/dL Thrombocytopenia: platelets <50 x 10^9/L Neutropenia: absolute neutrophil count <1.5 x 10^8/L

Answer 16

2-6 cases per million More common in younger people Acquired causes are toxins/ drugs/ virus induced

Answer 17

Acquired; Immune mediated Environmental; toxins, benzene, chloramphenicol, phenytoin, NSAIDs Viral; EBV, hepatitis, parvovirus b19 Pregnancy Inherited; Fanconi anaemia Dyskeratosis congenita Shwachman diamond syndrome

Answer 18

Fatigue Pallor Infection Bleeding/ bruising Assess history; Drug exposure in the last 6 months Occupational exposure to chemicals Recent infections Co-morbidities Genetic testing

Answer 19

Myelodysplastic syndrome Leukaemia Hypersplenism Infection

Answer 20

FBC Bone marrow aspiration and biopsy Cytogenetic testing Haematopoetic stem cell studies Immunological assays

Answer 21

Supportive care Haematopoetic stem cell transplant Immunosuppressive therapy; antithymocyte therapy, cyclosporine, chemotherapy Blood transfusion

Answer 22

Haematopoetic stem cell transplant offers best chance of cure

Answer 23

RBCs, 90–120 days platelets, 10 days neutrophils, 4 days

Answer 24

Generally stored at 4 °C for up to 35 days In vivo, RBCs typically have a lifespan of about 120 days; however, it is important to note that transfused red cells last around 50–60 days

Answer 25

Stored at –30 °C, with a shelf life of a year Used in patients with coagulopathy (impaired blood coagulation) to replace clotting factors The type of FFP used depends on the patient's blood group

Answer 26

Cryoprecipitate is made by thawing FFP overnight at 4–8 °C It has a shelf life of 1 year stored at –30 °C It contains fibrinogen, factor VIII and von Willebrand factor It is generally used in patients with massive bleeding and low fibrinogen

Answer 27

Allergy Acute haemolytic transfusion reaction Febrile non haemolytic transfusion reaction Transfusion related acute lung injury Transfusion associated circulatory overload

Answer 28

Delayed haemolytic transfusion reaction Transfusion associated graft vs host disease Iron overload

Answer 29

Caused by giving an incompatible blood bag to a patient Early signs include fever, abdominal pain, hypotension and anxiety Late complications include generalised bleeding secondary to DIC

Answer 30

Stop transfusion Give saline Treat DIC

Answer 31

Mild; A temperature rise of 1 - 2°C leading to pyrexia ≥38°C, but <39°C And/or pruritus or a rash WITHOUT other features Moderate; Temperature ≥39°C OR a rise of ≥2°C from baseline AND/OR systemic symptoms such as chills, rigors, myalgia, nausea or vomiting)

Answer 32

Pulmonary oedema resulting in acute respiratory distress syndrome

Answer 33

Stop transfusion Give saline Supplemental oxygen

Answer 34

Stop transfusion Furosemide Supplemntal oxygen

Answer 35

Blue staining of ribosomal precipitates within cytoplasm of red blood cells

Answer 36

Megaloblastic anaemia Thalassemia, in particular alpha Sideroblastic anaemia Lead poisoning Alcohol abuse Pyrimidine 5@- nucleotidase deficiency

Answer 37

Single peripheral bodies within red cells representing DNA material typically removed by spleen Presence of these bodies can represent hyposplenism

Answer 38

Fragments of red cells seen in microangiopathic haemolytic anaemia Irregularly shaped, jagged and have 2 end points

Answer 39

Isolated syndrome Haemolytic uraemic syndrome Thrombotic thrombocytopenia purpura Disseminated intravascular coagulation

Answer 40

Presence of immature cells including presence of band cells due to unlobed neutrophil nucleus present as a band

Answer 41

Acute infection Myeloproliferative disorder Chronic myeloid leukaemia Myelofibrosis Acute leukaemia

Answer 42

Signifies neutrophil maturation and presence of hypermature neutrophils with more than 5 lobes

Answer 43

Chronic infections Use of granulocyte- colony stimulating factor therapy Megaloblastic anaemia

Answer 44

Presence of immature red blood cells indicating high red cell turnover and increased bone marrow production and released

Answer 45

Haemolysis Acute bleeding

Answer 46

Non specific blood film finding

Answer 47

Obstructive liver disease Haemoglobinopathies; thalassaemia, sickle cell Post splenectomy

Answer 48

Stacks of aggregated red blood cells when plasma protein concentration is high

Answer 49

Multiple myeloma Waldenstorm's macroglobulinaemia Inflammatory disorders Malignancies

Answer 50

Presence of immature red blood cells and left shift

Answer 51

Marrow fibrosis Invasion Primary myelofibrosis Metastatic cancer TB Gaucher's disease

Answer 52

Variation in red blood cell size (MCV)

Answer 53

Iron deficiency anaemia; most common Sickle cell anaemia Anaemia of chronic disease Thalassaemia

Answer 54

Red blood cells that appear irregularly spiked on a blood film due to altered lipid/ protein composition of the red blood cells plasma membrane

Answer 55

Liver disease Neuroacanthocytosis, anorexia nervosa, hypothyridism, myelodysplasia

Answer 56

Round red blood cell inclusions, slender loops seen in cytoplasm of

Answer 57

Megaloblastic anaemia Lead poisoning Leukaemia

Answer 58

Red cells with small irregularly distributed projections across cell surface

Answer 59

Liver disease Vitamin E deficiency End stage renal disease Haemolytic enzyme disorder

Answer 60

Accumulation of mature monoclonal B lymphocytes in blood, bone marrow and lymphoid tissue

Answer 61

Most common in men over age of 60 years Most common leukaemia in western countries

Answer 62

Genetic and environmental factors Family history

Answer 63

Non-tender symmetrical lymphadenopathy Hepatosplenomegaly B symptoms – weight loss, night sweats and fever Bone marrow failure; infection, anaemia, bleeding

Answer 64

Hairy cell leukemia Small lymphocytic lymphoma Infection

Answer 65

FBC Blood film Immunophenotyping; CD5/ CD23 positive, FMC negative Direct antiglobulin test positive

Answer 66

Binet's system Based on lymphoid tissue enlargement, haemoglobin and platelets

Answer 67

Chemotherapy, rituximab Allogenic stem cell transplant Steroids Antibiotics

Answer 68

Infections Transformation to diffuse large B-cell lymphoma Autoimmune haemolytic anaemia

Answer 69

Disease stage Atypical lymphocyte morphology Lymphocyte doubling time <12 months Bone marrow trephine showing diffuse involvement Chromosomal/genetic abnormalities, in particular TP53 Unmutated immunoglobulin VH (IGVH) gene status Male sex High expression CD38

Answer 70

CLL is a very variable disease: 1/3 of cases don't progress, 1/3 of cases progress slowly, and 1/3 of cases progress actively.

Answer 71

Myeloproliferative neoplasm characterised by presence of Philadelphia chromosome resulting in uncontrolled proliferation of myeloid cells in bone marrow

Answer 72

Reciprocal translocation of genetic material between chromosomes 9 and 22, leading to the formation of the BCR-ABL1 fusion gene

Answer 73

Middle aged patients 40-50 years More common in men than women

Answer 74

BCR-ABL1 fusion gene Previous high dose ionising radiation

Answer 75

Weight loss Tiredness Fever Sweating Massive splenomegaly Bleeding Gout Hyperleukocytosis; Visual disturbance Confusion Priapism Deafness

Answer 76

Reactive leukocytosis Polycytaemia vera Essential thrombocythemia

Answer 77

FBC; raised myeloid cells, anaemia Blood film; blast cells, leucocytosis Bone marrow analysis; hyperplasia, fibrosis, granulocyte predominance High vitamin B12 Philadelphia chromosome

Answer 78

Tyrosine kinase inhibitor- imatinib Hydroxycarbamide Stem cell transplantation

Answer 79

Nausea Thrombocytopenia Neutropenia Fluid retention

Answer 80

Blast crisis Resistance to TKI Secondary malignancies

Answer 81

Chronic phase lasts 2-5 years Median survival of 5-6 years

Answer 82

A deep vein thrombosis (DVT) is a blood clot or thrombus that blocks a deep vein, commonly in the legs or pelvis.

Answer 83

Thrombophilia Hormonal (COCP, pregnancy and the postpartum period, HRT) Relatives (family history of VTE) Older age (>60) Malignancy Bone fractures Obesity Smoking Immobilisation (long-distance travel, recent surgery or trauma) Sickness (e.g. acute infection, dehydration)

Answer 84

Affects 1-2 per 1000 Common in unwell patients in hospital and affects upto 37% of critically ill patients

Answer 85

Unilateral erythema, warmth, swelling and pain in the affected area Pain on palpation of deep veins Distention of superficial veins Difference in calf circumference if the leg is affected This should be measured 10cm below the tibial tuberosity 3cm difference between the legs is significant

Answer 86

Cellulitis Calf muscle tear Superficial thrombophlebitis Compartment syndrome

Answer 87

If wells score under 1; Order D-dimer and if positive order leg vein ultrasound If wells score over 2; perform leg vein ultrasound scan Baseline bloods; FBC, U+E, LFT, CRP, TFT, coagulation

Answer 88

DOAC; apixaban, rivaroxaban is first line, LMWH is second line Anticoagulation for 3 months, 3-6 months in cancer patients In provoked DVTs with risk factor identifiable treatment can be stopped in 3 months and reviewed with baseline bloods If provoked consider testing for thrombophilia with antiphospholipid antibodies

Answer 89

Pulmonary embolism Post thrombotic syndrome Anticoagulation complications

Answer 90

Inappropriate activation of clotting cascade resulting in thrombus formation leading to depletion of clotting factors and platelets

Answer 91

Major trauma or burns Multi-organ failure Severe sepsis or infection Severe obstetric complications Solid tumours or haematological malignancies Acute promyelocytic leukaemia (APL) is an uncommon subtype of AML that is associated with DIC

Answer 92

Excessive bleeding e.g. epistaxis, gingival bleeding, haematuria, bleeding/oozing from cannula sites Fever Confusion Potential coma Petechiae Bruising Confusion Hypotension

Answer 93

Coagulopathies Sepsis Multiorgan failure

Answer 94

Blood tests, including: FBC (thrombocytopenia) Blood film may show schistocytes due to microangiopathic haemolytic anaemia (MAHA) Raised d-dimer (a fibrin degradation product) Clotting profile - increased prothrombin time (due to consumption of clotting factors), increased APTT, decreased fibrinogen (consumed due to microvascular thrombi)

Answer 95

Treat cause Transfusion of platelets, clotting factors Anticoagulation

Answer 96

X- linked recessive

Answer 97

G6PD enzyme generates NADP, NADPH and glutathione – important for maintaining the integrity of the RBC membrane It also helps to protect the red cells against oxidative damage

Answer 98

Males are affected and females tend to be carriers More common in west african, southern europe, middle east and south east asia Usually asymptomatic until significant intravascular haemolysis is triggered by oxidative stress

Answer 99

Intercurrent illness or infection (often forgotten) Fava beans – the disease was historically known as 'favism' Henna Medications (eg. primaquine, sulpha-drugs, nitrofurantoin, dapsone, and nonsteroidal anti-inflammatory drugs/aspirin)

Answer 100

Blood film; Heinz bodies, red cell fragmentation, bite cells, spherocytosis, reticulocytosis G6PD enzyme assay Direct antiglobulin test is negative

Answer 101

Avoidance of precipitants Maintaining good hydration Rarely blood transfusions may be required by some patients

Answer 102

Autosomal dominant

Answer 103

Mutation in red cell membrane protein resulting in abnormal red cell cytoskeleton due to deficiency in spectrin, ankyrin and band 3 This makes red cells more fragile and prone to osmotic fragility

Answer 104

Jaundice Gallstones Anaemia Splenomegaly

Answer 105

FBC Blood film; spherocytes Direct antiglobulin test

Answer 106

Folic acid supplementation Splenectomy before age of 5 can be curative

Answer 107

Autosomal recessive

Answer 108

Deficiency of pyruvate kinase (involved in the glycolytic pathway) leads to unstable RBC enzymes, with reduced ATP production

Answer 109

Blood film; echinocytes/ burr cells, reticulocytosis LDH and haptoglobin elevated Pyruvate kinase levels assay

Answer 110

Jaundice Gallstone Bone marrow expansion

Answer 111

Supportive Splenectomy

Answer 112

Myeloproliferative disorder caused by dysregulated megakaryocyte proliferation Often due to JAK2 or V617F mutation

Answer 113

The disease is most common in women aged 50–70 years. Median survival is 10–15 years.

Answer 114

50% of patients are asymptomatic, with only an incidental FBC finding Thrombosis (arterial or venous) Bleeding (gastrointestinal or intracranial) Hyperviscosity-related - dizziness/syncope, headache Splenomegaly Hyposplenism (caused by multiple splenic infarcts) Erythromelalgia (a red/blue discolouration of the extremities, often accompanied by a burning pain) Livedo reticularis (a net-like purple rash)

Answer 115

Transient thrombocytosis can be triggered by infection, bleeding, thrombosis, iron deficiency, hyposplenism or trauma

Answer 116

FBC; platelets over 450x10*9 JAK2 or V617F mutation Trephine biopsy- hypercellular bone marrow and pathological megakaryocytic clumping

Answer 117

Low risk; Age under 40 years AND Platelet count <1500 × 109/l No history of thrombosis or haemorrhage No cardiovascular risk factors (diabetes, hypertension, obesity and smoking) Intermediate risk; In between high and low risk High risk; Age over 60 Platelet count >1500 × 109/l Previous history of thrombosis or haemorrhage Diabetes or hypertension

Answer 118

Low risk; aspirin alone Intermediate risk; hydroxycarbamide and aspirin OR aspirin alone High risk; hydroxycarbamide and aspirin

Answer 119

Anaemia, thrombocytopenia, leukopenia

Answer 120

Chemotherapy, radiotherapy Vitamin B12, folate deficiency Marrow infiltration Myelofibrosis Multiple myeloma Inherited causes; fanconi's anaemia Liver conditions; autoimmune hepatitis Drug induced

Answer 121

High neutrophil count

Answer 122

Severe stress; Trauma Surgery Necrosis Burns Haemorrhage Seizures Active inflammation; Polyarteritis nodosa Myocardial infarction Disseminated malignancy

Answer 123

Neutrophil count below 0.5 x10*9

Answer 124

Severe sepsis Viral infection Drugs - such as chemotherapy Marrow failure (due to malignancy or infiltration Hypersplenism (less common) Felty's syndrome (less common) SLE (less common)

Answer 125

Associated with depleted levels of basophils and eosinophils

Answer 126

Carbamazepine Carbimazole Clozapine

Answer 127

Raised lymphocytes

Answer 128

Acute viral infection (especially EBV and CMV) Chronic atypical infection (tuberculosis, brucella, toxoplasmosis) Lymphoproliferative disorders (chronic lymphocytic leukaemia and lymphoma)

Answer 129

Infections e.g. parasitic worms Allergy including drug reactions Inflammatory diseases e.g. eosinophilic granulomatosis and polyangiitis

Answer 130

Low platelet count caused by decreased production or increased consumption?

Answer 131

Elevated platelet count over 450 x 10*9

Answer 132

Primary (essential) thrombocytosis is caused by dysregulated megakaryocyte (platelet precursor) proliferation. This is often due to a JAK2 V617F mutation, present in over half of patients with the condition. Secondary thrombocytosis is triggered by a precipitant (eg. infection, bleeding, thrombosis, iron deficiency, hyposplenism or trauma)

Answer 133

Medications; antibiotics (trimethoprim and quinolones such as ciprofloxacin), antimalarials (primaquine, quinidine, chloroquine), aspirin, NSAIDs, dapsone Infection Fava beans Chemical exposure Mental/ physical stress Tonic water, soy products

Answer 134

Most individuals with G6PD deficiency remain asymptomatic until exposed to triggers Jaundice: Caused by increased bilirubin levels due to haemolysis. Babies may present with neonatal jaundice. Pallor: Resulting from anaemia. Dark Urine: Due to haemoglobinuria, a consequence of haemolysis. Fatigue and weakness: May result from chronic, low-level haemolysis. Gallstones (pigmented)

Answer 135

Autoimmune haemolytic anaemia Hereditary spherocytosis Thalassemia

Answer 136

Acute haemolysis Chronic anaemia Infection susceptibility

Answer 137

Premature destruction of red blood cells leading to a decreased lifespan

Answer 138

Hereditary haemolytic anaemia; sickle cell, thalassemia, hereditary spherocytosis Acquired haemolytic anaemia; malaria, medication, mechanical trauma Intravascular haemolysis; Intrinsic cellular injury (eg. G6PD deficiency) Intravascular complement-mediated lysis (some autoimmune haemolytic anaemias) Paroxysmal nocturnal haemoglobinuria and acute transfusion reactions Mechanical injury – microangiopathic haemolytic anaemia and cardiac valves Autoimmune haemolytic anaemia (AIHA) Extravascular haemolysis; Abnormal red cells (e.g. sickle cell anaemia and hereditary spherocytosis) Normal cells having been marked by antibodies for splenic phagocytosis Warm autoimmune haemolytic anaemia; SLE, lymphoproliferative neoplasm (CLL, lymphoma), methyldopa Cold autoimmune haemolytic anaemia; post infection, lymphoproliferative disorders Non autoimmune haemolytic anaemia; Microangiopathic haemolytic anaemia Paroxysmal nocturnal haemoglobinuria (PNH) Physical lysis of red cells (e.g. malaria, patients with mechanical heart valves) Haemolytic uraemic syndrome (HUS) – often caused by E. coli 0157:H7 Infectious causes of disseminated intravascular coagulation (DIC) such as fulminant meningococcaemia

Answer 139

Fatigue Pallor Jaundice - Haemolysis releases bilirubin into the bloodstream, causing yellowing of the skin and sclera Splenomegaly - The spleen becomes enlarged as it works to remove and destroy the damaged red blood cells. Dark Urine Gallstones - Excess bilirubin can accumulate in the gallbladder, increasing the risk of gallstone formation. Leg Ulcers - In severe cases, reduced blood flow and oxygen supply can lead to painful leg ulcers. Shortness of Breath Heart Palpitations Sickle Cell Disease: Vaso-occlusive pain, acute chest syndrome, and strokes. Thalassemias: Profound anaemia, skeletal deformities, and organ enlargement. Hereditary Spherocytosis: Splenomegaly and fatigue due to haemolysis. Autoimmune Haemolytic Anaemia: Variable symptoms linked to haemolysis extent and underlying autoimmune conditions. Infections (e.g., Malaria): Fever, fatigue, and organ dysfunction. Medication-Induced: Variable symptoms, jaundice, and specific drug-related effects.

Answer 140

FBC Blood film; reticulocytosis LFT Raised LDH Raised urinary urobilinogen

Answer 141

Supportive care Immunosuppression; corticosteroids Splenectomy

Answer 142

X linked recessive

Answer 143

Factor VIII

Answer 144

1 in 5000 men in Haemophilia A 1 in 25000 men in haemophilia B

Answer 145

Spontaneous deep and severe bleeding into soft tissue, joint and muscles Excessive bleeding from trauma or surgical intervention Cerebral haemorrhage can cause mortality

Answer 146

Von willebrand disease Factor V, VII, X, XI, XIII deficiency Platelet disorder Liver disease Haematological malignancy Trauma Infectious disease Vasculitis Drug induced thrombocytopenia

Answer 147

Factor VIII/ IX assay Clotting profile - APTT is elevated vWF antigen is normal in haemophilia A Defective platelet function

Answer 148

Recombinant factor VIII/ IX Desmopressin in minor bleeds Tranexamic acid

Answer 149

Overdose of anticoagulant medication Drug interaction (e.g. antibiotics, antifungals, Aspirin, Amiodarone) Herbal products Increase in alcohol consumption Decrease in consumption of foods containing vitamin K Liver failure Infection

Answer 150

History; Dosing history of anticoagulant Concurrent illness Change in medications Change in diet/lifestyle (including alcohol and tobacco use) History of any falls/injuries History of blood loss; Haemoptysis Haematemesis Melaena Bleeding from the gums Examination; Evidence of bleeding Overt blood loss Bruising Bloods; Full blood count to check for concurrent anaemia, signs of infection Clotting screen to check for other clotting abnormalities

Answer 151

Consider CT head Major bleeding; Stop anticoagulants Administer IV vitamin K Administer prothrombin complex (preferred to FFP) Minor bleeding; Stop anticoagulants Administer IV vitamin K Repeat INR after 24 hours, may need further vitamin K No bleeding with INR > 8; Stop anticoagulants Administer IV or oral vitamin K Repeat INR after 24 hours No bleeding with INR > 5; Withhold 1-2 doses of anticoagulant Review maintenance dose of anticoagulant

Answer 152

Hodgkin lymphoma is malignant lymphoma characterised by the presence of Reed–Sternberg cells.

Answer 153

Epstein–Barr virus HIV Immunosuppression Cigarette smoking

Answer 154

Cervical/ supraclavicular lymphadenopathy B symptoms Hepatomegaly Splenomegaly

Answer 155

Lymphocyte predominant (infiltration of T cells) Nodular sclerosing (bands of fibrous tissue separate nodules of Hodgkin's disease) Mixed picture Lymphocyte depleted (no infiltrating lymphocytes

Answer 156

Stage I – involvement of a single nodal group Stage II – involvement of two or more nodal groups on the same side of the diaphragm Stage III – involvement of nodal groups on both sides of the diaphragm Stage IV – disseminated disease with involvement of extralymphatic organs (eg. the bones or lung) Additional staging variables include: (A) if the patient is asymptomatic or (B) if the patient presents with B symptoms (fever, night sweats or weight loss; often confers poorer prognosis) X if there is bulky nodal disease (>10 cm or >1/3 of the intrathoracic diameter) (S) if there is splenic involvement (E) if there is extranodal disease

Answer 157

FBC, CRP, ESR Lymph node biopsy LDH CT/ PET scan

Answer 158

Chemotherapy; ABVD (Adriamycin® (doxorubicin), bleomycin, vinblastine and dacarbazine) Second line therapy; ESHAP (etoposide, cytosine arabinoside, methylprednisolone (high dose steroids) and cisplatin) Autologous transplant

Answer 159

Variable Depends on Histopathological disease type – lymphocyte-predominant has the best prognosis; lymphocyte-depleted has the worst prognosis Disease bulk Clinical stage

Answer 160

Autoimmune condition characterised by reduction in number of circulating platelets Type II hypersensitivity reaction where spleen produces antibodies to GP IIb/ IIIa

Answer 161

More common in children following viral infection More common in firls

Answer 162

Viral infection Autoimmune conditions (i.e. systemic lupus erythematosus) Infections (i.e. H pylori and CMV) Medications Lymphoproliferative disorders

Answer 163

Easy/ excessive bleeding Superficial bleeding petechiae Prolonged bleeding from cuts Spontaneous bleeding from gums/ nose Blood in urine/ stools Heavy menstrual flow

Answer 164

Aplastic anaemia Leukaemia Thrombotic thrombocytopenic purpura

Answer 165

FBC Blood film Inflammatory markers Bone marrow biopsy

Answer 166

Tranexamic acid IVIG Steroids Splenectomy

Answer 167

Significant bleeds Intracranial haemorrhage

Answer 168

Self limiting 1 in 5 children have chronic course

Answer 169

Haematological disorder as a result of insufficient iron resulting in low haemoglobin and low oxygen carrying capacity

Answer 170

More common in young children and women of child bearing age More common in elderly

Answer 171

Dietary Insufficiency: Inadequate iron intake, especially in individuals with restrictive diets or limited access to iron-rich foods. Chronic Blood Loss: Gastrointestinal bleeding, heavy menstrual periods, and other sources of chronic blood loss (e.g. angiodysplasia) can deplete iron stores. Malabsorption Disorders: Conditions like coeliac disease, inflammatory bowel disease and atrophic gastritis can hinder iron absorption in the gut. Hookworms are a more prominent cause in tropical setting. Increased Demand: During pregnancy and rapid growth phases, the body's iron requirements can surpass the available supply. This can also occur if there is chronic haemolysis

Answer 172

Tiredness Lethargy Weakness Palpitations: An increased heart rate may be noticeable, especially when at rest. Cognitive Impairment: Some patients may exhibit difficulty concentrating or memory issues Cold Intolerance Headaches and dizziness Brittle Nails: Changes in the nails, such as brittleness and spoon-shaped deformities (koilonychia), can be observed. Angular stomatitis Atrophic glossitis Pica

Answer 173

Colorectal malignancy Tha;assaemias Chronic inflammatory conditions; rheumatoid arthritis, IBD, anaemia of chronic disease

Answer 174

FBC; low Hb, low MCV, hypochromic, microcytic red cells, on blood film pencil cells/ target cells Reticulocyte count TIBC; high Ferritin; low, if low is diagnostic for IDA FIT test

Answer 175

Oral ferrous sulphate Increase dietary intake Address cause and treat it

Answer 176

Secondary malignancy Cardiorespiratory complications Endocrine dysfunction Infertility Avascular necrosis of the hip – due to prolonged steroid exposure Neuropsychological effects

Answer 177

Red cells are larger than normal, it can be wither megaloblastic or non-megaloblastic with presence of hyper segmented neutrophils

Answer 178

Megaloblastic anaemia is more common in older people with folate or B12 deficiency being most common Non-megaloblastic is more common in younger people and alcohol/ pregnancy is more common

Answer 179

B12 deficiency; dietary, malabsorption Folate deficiency Drugs; hydroxycarbmide, azathioprine, cystosine arabinoside, azidothymidine

Answer 180

Liver disease Alcohol Hypothyroidism Myelodysplastic syndrome Hypothyroidism Pregnancy (usually a mild macrocytosis)

Answer 181

Fatigue and Weakness Pallor Shortness of Breath Glossitis Neurological symptoms; paraesthesia, ataxia, cognitive impairment

Answer 182

Haemolysis Liver disease Medications; chemotherapy, methotrexate, antiretroviral drugs Myelodysplastic syndromes

Answer 183

FBC Haematinics Blood film; macrocytosis, presence of hypersegmented neutrophils TFT, LFT, antibodies for intrinsic factor Markers for haemolysis; bilirubin, LDH

Answer 184

Hydroxocobalamin and folate supplementation Non megaloblastic anaemia; treat underlying cause, such as addressing alcohol consumption or providing support during pregnancy

Answer 185

haematological disorder marked by the abnormal accumulation of methaemoglobin, a form of haemoglobin unable to bind oxygen efficiently

Answer 186

Can affect all ages More common in infants due to immature enzymes or those exposed to specific chemicals or medications

Answer 187

Congenital causes, enzyme deficiencies Exposure to nitrates, local anaesthetics, benzene derivatives

Answer 188

Cyanosis Dyspnoea Headache Dizziness Fatigue Altered mental status Seizures, coma or cardiac arrhythmia

Answer 189

Congenital heart disease Respiratory disorders Carbon monoxide poisoning

Answer 190

Measure methaemoglobin in blood using co-oximetry/ spectrophotometry

Answer 191

Oxygen therapy Methylene blue, ascorbic acid supplementation Supportive care

Answer 192

Hypoxic tissue injury Metabolic acidosis Seizures Coma Cardiovascular collapse

Answer 193

Depends on cause and severity

Answer 194

DMARD that inhibits DNA synthesis by inhibiting enzyme dihydrofolate reductase resulting in immunosuppressive and cytotoxic effects

Answer 195

Gastrointestinal upset (e.g. nausea, diarrhoea, abdominal pain) Stomatitis and mucosal ulcers Anorexia Headache Hair loss Fatigue Increased risk of infection; may reactivate latent infections Teratogenicity Myelosuppression with subsequent anaemia, leukopenia and thrombocytopenia Hepatotoxicity including liver cirrhosis Renal toxicity Pulmonary toxicity especially pneumonitis; increased risk in rheumatoid arthritis Photosensitivity reactions - may present with blistering or papular rashes and swelling of affected skin

Answer 196

Blood pressure Weight and height Pregnancy testing if appropriate Full blood count (FBC) U&Es for renal function (dose reduction may be needed; avoid methotrexate in severe impairment) Liver function tests (avoid if baseline hepatic impairment) Hepatitis B and C and HIV serology Consider screening for tuberculosis and other lung disease e.g. with a chest X-ray

Answer 197

FBC, U&Es and LFTs should be checked every 2 weeks until the dose of methotrexate is stable They should then be checked monthly for 3 months, then at least every 3 months thereafter More frequent monitoring may be required in patients at increased risk of toxicity

Answer 198

Active infection - methotrexate should be paused during acute infections Immunodeficiency syndromes Ascites or significant pleural effusion (increases the risk of methotrexate accumulation unless drained) Significant hepatic or renal impairment Current peptic ulceration Pregnancy or breast-feeding Co-administration of another anti-folate medication e.g. co-trimoxazole

Answer 199

Excess alcohol intake (increases hepatotoxicity risk) Renal impairment (may need to reduce dose) Pre-existing haematological abnormalities e.g. anaemia, thrombocytopenia Chronic respiratory disease History of recurrent infections (e.g. urinary tract infections, chronic obstructive pulmonary disease exacerbations) Frail or elderly patients (may require dose reduction) Dehydration - may need to pause treatment e.g. if the patient develops diarrhoea or vomiting

Answer 200

NSAIDs Trimethoprim/ co-trimoxazole Anti-epileptic medications Theophylline

Answer 201

Contraception is recommended Methotrexate should be stopped 6 months prior to conception Breast feeding is contraindicated

Answer 202

Folinic acid- e.g calcium folinate

Answer 203

Annual influenza One off pneumpococcal vaccine prior to starting treatment Covid vaccination If over 50 years, shingles vaccine Avoid live vaccines

Answer 204

Microcytic anaemia is defined by the presence of RBCs that are smaller than normal, with a mean corpuscular volume (MCV) typically below the reference range (around <76 fl).

Answer 205

Nail changes such as koilonychia (spoon-shaped nails) Atrophic glossitis Angular stomatitis Pica: Iron-deficiency anaemia may manifest as pica, with cravings for non-food substances like ice (pagophagia) or clay (geophagia).

Answer 206

Fatigue and Weakness Pallor Shortness of Breath Palpitations Cold intolerance

Answer 207

Iron deficiency of anaemia Thalassaemias Lead poisoning Anaemia of chronic disease Sideroblastic anaemia

Answer 208

FBC, MCV Blood film; microcytic, hypochromic red cells Iron studies; low serum iron, low ferritin low transferrin saturation Hb electrophoresis Lead levels Bone marrow biopsy

Answer 209

Iron supplementation Blood transfusion Treat cause; Thalassaemia, lead poisoning

Answer 210

Take both medications 4 hours apart and iron reduces levothyroxine absorption

Answer 211

Spectrum of disorders where the bone marrow fails to produce normal and functional blood cells. It is often a precursor to acute myeloid leukemia (AML) and is characterized by dysplastic changes in blood cell precursors.

Answer 212

Disease of elderly, median age at diagnosis 75 years 2-5 cases per 100,000

Answer 213

Combination of genetic mutations, microenvironment and exposure to environmental toxins contributes to clonal proliferation of aberrant haematopoetic stem cells resulting in impaired differentiation, maturation and increased apoptosis leading to cytopenia and anaemia

Answer 214

Age: Advanced age is the most significant risk factor for MDS. Genetic Predisposition: Specific genetic mutations increase the risk. Chemotherapy and Radiation Therapy: Previous cancer treatments can lead to secondary MDS. Environmental Exposures: Prolonged exposure to toxins, such as benzene, may contribute.

Answer 215

Idiopathic Genetic mutations; TP53, SF3B1 Radiotherapy

Answer 216

Fatigue Anaemia Easy bruising Recurrent infections Bleeding tendencies Petechiae Paleness Enlarged spleen (splenomegaly)

Answer 217

Aplastic anaemia Leukaemia Nutritional deficiency Autoimmune disease

Answer 218

FBC Blood smear; nucleated RBC, howell- jolly bodies, large agranular platelets, basophilic stippling Bone marrow biopsy Cytogenetic studies MRI/ CT scan

Answer 219

Supportive care Haematopoetic stem cell transplant Azacitidine and decitabine can help slow progression to AML Lenalidomide can also be used depending on mutation

Answer 220

Transformation to acute leukaemia (AML) Severe infections due to neutropaenia Progression to more advanced MDS subtypes Reduced quality of life due to anaemia and transfusion dependency.

Answer 221

Chronic myeloproliferative neoplasm characterised by gradual replacement of normal bone marrow tissue with fibrous tissue resulting in bone marrow scarring, peripheral blood abnormalities and splenomegaly

Answer 222

Rare with incidence of 2 per 100,000 Affects older adults over the age of 65 No significant geographical variation

Answer 223

Genetic mutations; JAK2, CALR, myeloproliferative leukaemia virus oncogene (MPL)

Answer 224

Constitutional symptoms – weight loss, fever, night sweats Marrow failure – anaemia, recurrent infection, and abnormal bleeding/bruising Bone pain Haemorrhage and thrombosis (less common in myelofibrosis than in other myeloproliferative disorders) Hepatomegaly Splenomegaly

Answer 225

Primary vs secondary myelofibrosis Myelodysplastic syndrome Leukaemia

Answer 226

FBC Blood film; tear shaped poikilocytes Trephine biopsy; hypercellular tissue, reduced fat space, increased reticulin staining Urate and LDH is high JK2 V517F positive in 50% of cases

Answer 227

Allogenic stem cell transplant; in under 70 years with good performance status and high risk disease JAK-2 inhibitors; ruxolitinib Cytotoxic agents; thalidomide, splenic irradiation

Answer 228

Transformation to acute leukaemia Splenomegaly related complication; abdominal discomfort, early satiety, infection CVD and thrombotic events; MI, DVT, PE

Answer 229

Plasma cell dyscrasia characterised by abnormal clonal proliferation of post germinal B cells

Answer 230

Second most common haematological malignancy accounting for 1% of malignancies More common in older people More common in men Afro- caribbean twice as affected as caucasian

Answer 231

Genetic Exposure to radiation Immunosuppressive conditions Exposure to chemicals

Answer 232

Hypercalcaemia; renal stones, GI symptoms, fatigue, memory loss, psychosis Renal impairment due o light chain deposition in kidney Anaemia Osteolytic lesions Hyperviscosity; VTE Amyloidosis Infections

Answer 233

Monoclonal gammopathy of undetermined insignificance Waldenstrom macroglobulinaemia Amyloidosis

Answer 234

FBC; anaemia U+E; renal impairment ESR Skeletal survey; X-ray, CT, MRI Serum/ urine electrophoresis Serum free light chain assay (bence jones proteins); kappa/ lambda proteins Bone marrow aspiration and biopsy; >10% plasma cells in bone marrow

Answer 235

>10% plasma cells in bone marrow

Answer 236

Acute presentations; Acute renal failure – swift treatment of volume depletion is critical, as well as early involvement of renal physicians Hypercalcaemia – fluid and bisphosphonates needed Hyperviscosity – requires plasmapheresis Spinal cord compression – should be treated as a radiotherapy emergency Induction therapy; bortezomib, thalidomide, dexamethasone Daratumumab- monoclonal antibody binding to CD38 Autologous stem cell transplant

Answer 237

Bone disease; bone distuction, pathological fractures Renal dysfunction Infections Anaemia

Answer 238

B2 microglobulin LDH CRP FISH Cytogenetics

Answer 239

Depleted levels of basophils and eosinophils

Answer 240

Reduced absolute neutrophil count below 0.5x10^9 and a temperature over 38 degrees

Answer 241

Chemotherapy; most common cause Gram positive bacteria; staph aureus, strep pneumoniae, strep epidermididis Gram negative bacteria; E.coli, pseudomonas Fungal pathogens

Answer 242

Fever Rigors Hypotension Tachycardia Respiratory distress Altered mental status

Answer 243

Benign ethnic neutrpenia; african and middle eastern Aplastic anaemia Viral infections Drug induced neutropenia Autoimmune neutropenia Inflammatory disorders Malignancy B12 and folate deficiency Congenital; schwachman- Diamond syndrome

Answer 244

Bedside observations FBC, CRP CXR, CT LP Bronchoscopy

Answer 245

Empirical antibiotics; piperacillin- tazobactam Fluid resuscitation Supportive care Haematopoetic growth factors Fungal prophylaxis

Answer 246

Malignancy affecting lymphoid system with the absence of reed sternberg cells

Answer 247

Most common haematological malignancy More common in males

Answer 248

Helicobacter pylori – gastric MALT (mucosa-associated lymphoma tissue) lymphoma Epstein–Barr virus/HIV – Burkitt lymphoma (high-grade NHL) and AIDS-related CNS lymphoma hepatitis C virus – diffuse large B-cell lymphoma and splenic marginal zone lymphoma human T-cell lymphotropic virus type 1 (HTLV1) – T-cell lymphoma immunodeficiency states (eg. HIV/AIDS and post-organ transplant) autoimmune disorders (eg. Sjögren's disease and coeliac disease) inherited disorders affecting DNA repair (eg. ataxia telangiectasia and Fanconi anaemia)

Answer 249

Over 30 types Classified as B or T cell origin High grade is aggressive, low grade is indolent Diffuse large B cell lymphoma and follicular lymphoma are most common

Answer 250

High grade lymphoma with 60-70% cure rate

Answer 251

Low grade lymphoma of B cell germinal centre

Answer 252

Painless lymphadenopathy B symptoms Splenomegaly Hepatomegaly

Answer 253

LDH FBC- normocytic anaemia Blood film; nucleated red blood cells, left shift Biopsy CT/ PET scan for staging Cytogenetics

Answer 254

Low grade indolent non hodgkins lymphoma; Stage 1; local radiotherapy Advanced systemic disease consider rituximab High grade; Gold standard; R-CHOP (cyclophosphamide, doxorubicin, vincristine and prednisolone + rituximab) Burton tyrosine kinase inhibitors; ibrutinib Autologous and allogenic transplant

Answer 255

Infection Neurological complications; peripheral neuropathy Paraneoplastic syndrome Bleeding and coagulopathy Secondary malignancy

Answer 256

Recent bleeding Anaemia of chronic disease Combined iron & B12/folate deficiency Most non-haematinic-deficiency causes

Answer 257

Iron deficiency α-thalassaemia, β-thalassaemia, HbE, HbC Anaemia of chronic disease (this more often causes normochromic normocytic anaemia) Lead poisoning Sideroblastic anaemias (rare)

Answer 258

Normoblastic; Liver disease Alcohol Hypothyroidism Myelodysplastic syndrome Hypothyroidism Pregnancy (usually a mild macrocytosis) Megaloblastic; B12 deficiency; reduced intake, pernicious anaemia, IBD, gastrectomy Folate deficiency Drugs; hydroxycarbamide, azathioprine, cytosine arabinoside, azidothymidine

Answer 259

Nutritional deficiency coorrection Erythropoiesis stimulating agents Treat underlying condition Blood transfusions Bone marrow stimulants; G-CSF Supportive care Regular monitoring

Answer 260

Build up of monoclonal protein in the serum or urine Monoclonal plasma cells may be present in marrow, soft tissue and circulation

Answer 261

Premalignant; MGUS Malignant; multiple myeloma, waldenstorm macroglobulinaemia, solitary plasmacytoma

Answer 262

Presence of monoclonal proteins on electrophoresis, 1% undergo malignant transformation to multiple myeloma Monoclonal protein levels under 30 g/l and marrow biopsy is <10% monoclonal plasma proteins

Answer 263

Low grade lymphoma with monoclonal plasmacytoid lymphocytes that secrete monoclonal IgM

Answer 264

IgM deposition – hyperviscosity, polyneuropathy organ infiltration – hepatosplenomegaly, lymphadenopathy bone marrow infiltration – pancytopenia

Answer 265

Tender swelling affecting bone or soft tissue (Extramedullary; most commonly occuring in head/ neck)

Answer 266

Paraproteinaemia in association with lymphoma (particularly NHL) or leukaemia (particularly CLL)

Answer 267

Col sensitive paraproteinaemia that precipitates in reduced temperatures

Answer 268

Type 1 – monoclonal IgM cryoglobulin seen in Waldenström macroglobulinaemia clinical features are primarily hyperviscosity Type 2 – mixed monoclonal/polyclonal cryoglobulin seen in chronic infections (eg. hepatitis) Type 3 – polyclonal cryoglobulin seen in connective tissue disease (e.g. Sjögren's disease or SLE).

Answer 269

Defective red cells membranes makes RBC more suscpetible to haemolysis

Answer 270

Somatic mutation in PIGA gene in haematopoetic stem cells leading to absence in GPI anchored proteins on the cell surface making RBC, WBC and platelets more susceptible to complement mediated haemolysis

Answer 271

Deficiency in GPI anchored proteins

Answer 272

Nocturnal episodes of intravascular haemolysis – it is not known why this occurs at night Dark/coca-cola-coloured urine (haemoglobinuria) in the morning due to nocturnal haemolysis Repeated urinary infections (leukopenia) Mucocutaneous bleeding (thrombocytopenia) Fatigue (occasionally can have a pancytopaenic picture) Symptoms of thrombosis depending on site - headache and visual disturbances (cerebral vessels), abdominal pain (abdominal vessels), chest pain (PE), leg/calf pain (DVT)

Answer 273

FBC; haemolysis, pancytopenia, thrombocytopenia USS/ CT/ MRI to look for thrombosis Bone marrow aspiration and biopsy Ham's test; diagnostic test for PNH Flow cytometry

Answer 274

Red cell transfusion Anticoagulation; warfarin is given is platelet count is below 50x10*9 Eculizumab; monoclonal antibody directed against complement C5 Folic acid and iron supplementation Bone marrow supplementation if progression to AML

Answer 275

Thrombosis Bone marrow failure Anaemia Infections Progression to AML

Answer 276

Autoimmune destruction of gastric parietal cells resulting in reduced intrinsic factor and hence B12 resulting in macrocytic anaemia

Answer 277

Autoimmune attack Intrinsic factor deficiency B12 deficiency Megaloblastic changes Haemolysis

Answer 278

More common in northern european, scandivianian and african descent More common in adults over the age of 60 More common if history of other autoimmune disease

Answer 279

Fatigue Pallor Glossitis - inflammation of the tongue, leading to a smooth, beefy-red appearance. Neurological Symptoms and subacute combined degeneration of the cord: Pernicious anaemia may cause neuropathy, affecting balance, sensation, and coordination. Jaundice - due to haemolysis Cognitive Impairment - memory problems, confusion, and mood changes may occur

Answer 280

Iron deficiency anaemia Folate deficiency Myelodysplastic syndrome

Answer 281

FBC; low Hb, high MCV, High MCH, normal MCHC, low reticulocyte count Blood film; oval shaped RBC Haematinics Parietal cell antibodies Bone marrow aspiration and biopsy

Answer 282

Lifelong hydroxycobalamin replacement Concurrent folate replacement

Answer 283

Gastric cancer Peripheral neuropathy Subacute combined degeneration of the cord Optic atrophy Dementia Other autoimmune disorder

Answer 284

Increase in haematocrit, red cell count and haemoglobin concentration

Answer 285

Relative is due o low plasma volume and can be caused by; Dehydration Chronic alcohol intake Excess diuretic use Pyrexia Diarrhoea and vomiting Gaisbock syndrome Absolute polycythaemia is when plasma volume is normal and red cell mass if higher Primary causes; polychythaemia ruby vera is due to JAK2 gene mutations leading to uncontrolled red blood cell production Secondary is due to excess EPO secretion casued by chronic hypoxia, anabolic steroid use, renal neoplasms, CKD, cyanotic heart disease

Answer 286

Fatigue Headache Visual disturbances (secondary to hyperviscosity) Pruritus (typically after a hot bath) Erythromelalgia (a painful burning sensation in the fingers and toes) Arterial thrombosis (eg. myocardial infarction or stroke) Venous thrombosis (eg. pulmonary embolus or deep vein thrombosis) Haemorrhage (intracranial or gastrointestinal)- paradoxical increased bleeding risk (due to impaired platelet function) Increased risk of gout (caused by hyperuricaemia secondary to increased cell turnover). Facial redness on examination (plethora) Splenomegaly Hypertension Peptic ulceration Hyperviscosity symptoms; chest pain, myalgia, weakness, headache, blurred vision Ruddy complexion Splenomegaly

Answer 287

Pulse oximetry FBC; raised Hb, raised haematocrit, raised red cell mass U+E Vitamin B12 JAK2 V617F mutation Bone marroe biopsy USS

Answer 288

Venesection Aspirin 75mg daily Cryoreductive hterapy; hydroxycarbamide, interferon (JAK-2 inhibitors such as ruxolitinib) and busulfan Allopurinol Antihistamines

Answer 289

Haematocrit <45% in primary polycythaemia Haematocrit <55% in secondary polycythaemia

Answer 290

Inherited genetic condition where HbS is present resulting in deoxygenation and distortion of RBC

Answer 291

More common in central and western african descent

Answer 292

The 6th amino acid glutamic acid (GAA) is replaced by valine (GTA) on the beta globin chain In its deoxygenated state HbS undergoes polymerisation forming crystals that cause polymers to form leading to sickling of RBC Abnormal shape RBC thrombose in microvasculture

Answer 293

Autosomal recessive

Answer 294

Sequestration of red blood cells in spleen leads to extravascular haemolysis leading to splenic congestion and splenomegaly Followed by splenic infarction leading to hyposplenism This leads to reduced immune function

Answer 295

Vaso-occlusive crises; microvascular obstruction due to RBC sickling Acute chest crisis Splenic infarction and subsequent immunocompromise Sequestration crisis Osteomyelitis Stroke Dactylitis Poor growth Chronic renal disease Gallstones Retinal disorders Priapism Pulmonary fibrosis and pulmonary hypertension Iron overload from repeated blood transfusions Red cell aplasia (due to parvovirus B19 infection in the presence of chronic haemolytic anaemia)

Answer 296

FBC; microcytic anaemia, reticulocytosis Blood film; target cells, polychromasia, howell- jolly bodies, nucleated red cells, reticulocytosis Hb electrophoresis

Answer 297

Acute cell crises; High-flow oxygen IV fluids and analgesia Top-up transfusions – required in some severe cases Chronic disease; Hydroxycarbamide Exchange transfusion Vaccination and antibiotic prophylaxis Crizaniluzumab (p-selectin inhibitor) for treatment of pain crises Bone marrow transplantation

Answer 298

Group of blood disorders characterised by impaired ability of bone marrow to produce normal red blood cells Defective sideroblast cells have ringed pattern with iron loaded mitochondria

Answer 299

More common in elderly

Answer 300

Ineffective erythropoiesis leading to increased iron absorption and deposition within bone marrow and other organs

Answer 301

Congenital; X linked recessive or dominant Acquired; drug toxicity, myelodysplastic syndrome, alcohol abuse, lead poisoning, isoniazid use

Answer 302

Fatigue Weakness Pallor Tachycardia

Answer 303

Iron deficiency anaemia Thalassaemia Anaemia of chronic disease

Answer 304

FBC Ferritin and iron levels; elevated Blood film; red cell cytoplasm inclusions (target cells) Bone marrow biopsy; iron deposition and ringed sideroblasts

Answer 305

Chelation therapy B6 supplementation Blood transfusion Stem cell transplant

Answer 306

Indications for emergency splenectomy include trauma and rupture (e.g. in EBV infection). An elective splenectomy may need to be done in cases of hypersplenism, where the spleen has a preference for platelets resulting in increased uptake, which leads to sequestration of cells in the spleen Indications for elective splenectomy include haemolytic anaemia (hereditary or immune) and idiopathic thrombocytopenic purpura.

Answer 307

Howell- Jolly bodies Pappenheimer bodies

Answer 308

Pneumococcal vaccination (with regular boosters every 5 years). Seasonal influenza vaccination (yearly, typically every autumn). Haemophilus influenza type B vaccination (one-off). Meningitis C vaccination (one-off).

Answer 309

Low dose prophylaxis typically for life of phenoxymethylpenicillin V If allergic then clarithromycin/ erythromycin

Answer 310

For patients with atrial fibrillation: 2-3 For patients with metallic valve replacements: 2-3 (aortic valve); 2.5-3.5 (mitral valve) Following venous thromboembolism (VTE): 2-3 (if recurrent then 3-4)

Answer 311

Inherited disorders characterised by abnormal haemoglobin production as a result in a defect in either the alpha or beta globin chain leading to a reduction in haemoglobin quantity

Answer 312

More prevalent in mediterranean european, central africa, middle east and indian subcontinent

Answer 313

Autosomal recessive

Answer 314

Spectrum of disease caused by non functioning copies of the 4 alpha globin genes on chromosome 16 Symptomatic disease occurs when 2 or more copies of the gene are lost

Answer 315

Patients with two defective copies have a mild asymptomatic anaemia – so-called α-thalassaemia trait Those with three defective copies have symptomatic haemoglobin H disease Microcytic anaemia (Hb approximately 70 g/l) Haemolysis Splenomegaly Normal survival is to be expected Inheritance of four defective copies (hydrops fetalis) is incompatible with life The lack of α-globin chains results in excess γ-chains (creating Hb Barts), which are poor carriers of oxygen owing to their high affinity for oxygen It may affect the fetus in utero Signs and Symptoms; Jaundice Fatigue Facial bone deformities

Answer 316

FBC will reveal a microcytic anaemia. Hb electrophoresis – can be normal, so DNA analysis is required to make the diagnosis

Answer 317

Blood transfusion Stem cell transplantation Splenectomy Folic acid supplementation

Answer 318

Spectrum of disease caused by non functioning copies of the two beta globin genes

Answer 319

The mildest variant of β-thalassaemia is β-thalassaemia minor (also known as thalassaemia trait) Patients typically have one functioning and one dysfunctional copy of the β-globin gene The most severe form of β-thalassaemia (known as β-thalassaemia major) is caused by a complete absence of β-globin synthesis (null mutations in both copies of the β-globin gene)

Answer 320

β-thalassaemia minor - patients are typically asymptomatic β-thalassaemia major: Severe symptomatic anaemia at 3–9 months of age Becomes evident when levels of HbF, which does not contain β-globin, fall and should be replaced by HbA (made up of two α- and two β-globin chains), which is lacking in β-thalassaemia major Ineffective haematopoiesis results in extramedullary haematopoesis, which results in Frontal bossing (hair-on-end appearance on Skull XR) Maxillary overgrowth and prominent frontal/parietal bones (hypertrophy of ineffective marrow) - "Chipmunk facies" Hepatosplenomegaly Failure to thrive in infancy

Answer 321

β-thalassaemia minor Isolated microcytosis (MCV approximately 63–77 fl) and mild anaemia (Hb typically not <100 g/l) The degree of anaemia is often less severe than would be expected for the degree of microcytosis Blood film - target cells and basophilic stippling Increased red cell count Hb electrophoresis (diagnostic) shows raised HbA2 (>3.5%) – can be lowered by the presence of iron deficiency Can be confused with iron deficiency – ferritin in β-thalassaemia minor is usually normal or high β-thalassaemia major Profound microcytic anaemia; reduced MCV and reduced MCHC Increased reticulocytes Blood film – marked anisopoikilocytosis, target cells and nucleated RBCs. Teardrop cells from extramedullary haematopoeisis may also be present Methyl blue stains – RBC inclusions with precipitated α-globin High-performance liquid chromatography (HPLC) or electrophoresis (diagnostic) – mainly shows HbF HbA2 may be normal or mildly elevated Haemolysis

Answer 322

Regular blood transfusions Hydroxycarbamide Allogenic bone marrow transplant Iron chelation

Answer 323

Desferrioxamine; Used for decompensated organ dysfunction Given via subcutaneous pump over 2–5 days each week Compliance may be an issue Deferiprone' Oral, given in three divided doses Particularly good for cardiac iron overload Side effects include: Nausea, Arthralgia, Agranulocytosis – weekly FBC needed, LFT disturbance, Zinc deficiency Deferasirox; A newer oral iron chelator Removes iron in the bile and faeces Once daily suspension with similar efficacy to desferrioxamine Side effects include: Gastrointestinal upset. Cytopenias, Increased creatinine

Answer 324

Cardiac/liver T2* MRI Endocrine tests Audiology and ophthalmology

Answer 325

Cardiomyopathy/ cardiac arrhythmia/ cardiac failure Acute sepsis Liver failure/ cirrhosis Hypocalcaemia Hypoparathyroidism Iron overload

Answer 326

Increased risk of VTE and can be due to genetic mutations such as factor V Leiden, prothrombin gene mutation, antiphospholipid syndrome

Answer 327

Varies based on specific condition Factor V leiden and prothrombin gene mutation have prevalence of 5-7% Antiphospholipid syndrome is more common in those with autoimmune conditions Acquired thrombophilias are associated with cancer/ hormones

Answer 328

Deficiency in protein C, protein S, antithrombin III Genetic mutation in Factor V Leiden or prothrombin gene Acquired; Lupus anticoagulant/antiphospholipid antibodies Polycythaemia Essential thrombocythaemia

Answer 329

DVT PE Cerebral venous sinus thrombosis Pregnancy related complications; recurrent miscarriage

Answer 330

Coagulation studies; aPTT, PT Genetic testing; Factor V Leiden mutation, prothrombin gene mutation Antithrombin, protein C and protein S deficiency Methylenetetrahydrofolate reductase; elevated homocysteine levels Antiphospholipid antibody testing; lupus anticoagulant , anticardiolipin, Anti- beta-2 glycoprotein I antibodies Imaging; doppler USS, CTPA, MRI Homocysteine levels; hyperhomocysteinaemia Cancer testing/ hormonal assessments

Answer 331

Factor V Leiden

Answer 332

Protein C, together with its cofactor protein S, inactivates clotting factors V and VIII Inactivating mutations in protein C or S increase the risk of thrombosis

Answer 333

The prevalence is higher in Southeast Asian patients Homozygosity for protein C deficiency is fatal in neonates unless it is rapidly treated

Answer 334

Abnormally cleaved vWF due to abnormal ADAMST13 activity leading to platelet aggregation, thrombus formation and systemic microangiopathy

Answer 335

Hereditary: Congenital mutation of ADAMST13 Auto-immune: AI inhibition of ADAMST13

Answer 336

Fever Microangiopathic haemolytic anaemia (MAHA) Thrombocytopaenic purpura CNS involvement: headache, confusion, seizures AKI

Answer 337

Urine dipstick; haematuria, non nephrotic range proteinuria FBC; normocytic anaemia, thrombocytopenia U&E shows a raised urea and creatinine Clotting is typically normal The blood film will reveal reticulocytes (secondary to haemolysis) and schistocytes (fragmented red cells) LFT, LDH, D-dimer will be raised and haptopglobins will be low consistent with haemolysis Low ADAMST13 activity is diagnostic

Answer 338

Fresh frozen plasma (FFP) – contains vWF-cleaving protease and complement components Plasma exchange – removes antibodies and toxins associated with the pathogenesis of the disease High-dose steroids, low-dose aspirin and rituximab can also be given

Answer 339

Metabolic disorder caused by rapid death of tumour cells in response to chemotherapy resulting in massive release of intracellular contents into blood stream leading to significant electrolyte imbalances

Answer 340

Hyperuricaemia Hyperphosphataemia Hyperkalaemia Hypocalcaemia

Answer 341

Aggressive rapidly proliferating tumours such as leukaemia, high grade lymphoma More likely following initiation of cytotoxic therapy

Answer 342

Dysuria or oliguria Abdominal pain Weakness Nausea or vomiting Muscle cramps Seizures Cardiac arrhythmias Gout/joint swelling

Answer 343

AKI Isolated hyperkalaemia Isolated hyperphosphataemia Isolated hypocalcaemia

Answer 344

Basic observations U&E: Potassium and phosphate are usually raised, raised Cr suggestive of AKI/renal failure. Calcium: Typically low in tumour lysis syndrome. Uric acid: Usually elevated. ECG: To assess risk of arrhythmias caused by electrolyte abnormalities. Hyperkalaemia may cause tented T waves, broad QRS, flattened P-wave and a prolonged PR interval. Hypocalcaemia may cause a prolonged QT interval

Answer 345

Correct electrolyte abnormality Sever hyperkalaemia; calcium gluconate followed by insulin- dextrose infusion Parenteral replacement of hypocalcaemia IV fluids Dialysis Rasburicase; urate oxidase enzyme Prevention; Low/intermediate risk patients can be managed with a combination of adequate hydration and allopurinol. Rasburicase (a recombinant form of the urate oxidase enzyme) can be used as a prophylactic agent in adults with hyperuricaemia that is inadequately managed by allopurinol or febuxostat.

Answer 346

Inherited bleeding disorder characterised by reduced quantity or function of vWF

Answer 347

Most common inherited bleeding disorder Affects 1% of population Equally common in men and women but women are more likely to experience symptoms

Answer 348

Genetic mutation resulting in deficiency or dysfunction of VWF

Answer 349

Type 1 VWD: Partial quantitative deficiency in VWF Type 2 VWD: Qualitative defects in VWF (e.g. decreased adhesion to platelets or factor VIII) Type 3 VWD: Almost complete deficiency of VWF

Answer 350

Excess or prolonged bleeding from minor wounds Excess or prolonged bleeding post-operatively Easy bruising Menorrhagia Epistaxis GI bleeding

Answer 351

Haemophilia Inherited bleeding disorders

Answer 352

Clotting tests reveal normal PT, TT and prolonged APTT Normal platelet count vWF level and activity assay

Answer 353

Medication/ blood transfusion to replace VWF; desmopressin

Haematology Flashcards

(383 cards)