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HAEMATOLOGY HANNA JEGINA EMAIL: HJ22@IC.AC.UK TOPICS 1) Haematological malignancies 2) Anaemia 3) Bleeding disorders 4) Red cell disorders BLOOD CELL LINEAGE IMMATURE CELLS MATURE CELLS Alessia Oppezzo, Cells & Bioscience, 2021 ACUTE LEUKAEMIA vs CHRONIC LEUKAEMIA BONE MARROW F AILUREHAEMATOLOGICAL MALIGNANCIES AML ALL CML CLLACUTE MYELOID LEUKEMIA How do patients with AML typically present? Old age Shortness of Breath Fatigue Pale Infections Gum infiltration in AML-M5 Bruising Bleeding Ionising radiation Benzene Bone pain Down’s Syndrome Constitutional symptoms Myelodysplastic Syndrome Exposure to risk factors! Treatment-related Karin Sá Fernandes, Wiley Online Library, 2018 ACUTE MYELOID LEUKEMIA Diagnosis- 4 ways! Management 1) Bloods- pancytopenia, neutropenia, Chemotherapy ↑LDH 2) Peripheral Blood Film- blasts, Auer rods Bone marrow transplant- 3) Bone marrow aspirate- > 20% blasts not all patients! Analgesia, blood transfusions, allopurinol 4) Cytogenetics, immunophenotypinTumour lysis syndrome molecular tests Elizabeth Courville, ASH, 2015WHAT IS THE IMPORTANT FEATURE IN THIS PERIPHERAL BLOOD FILM? AUER RODS ARE PATHOGONOMIC Mihova D. AML without maturation (FAB AML M1). PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/leuke.iam1.html.Accessed November 3rd, 2022CHRONIC LYMPHOCYTIC LEUKEMIA What cell is affected in CLL ? B lymphocyte CHRONIC LYMPHOCYTIC LEUKAEMIA Diagnosis- 4 ways Presentation 1) Bloods- anaemia, Over 55 thrombocytopenia, ↑ WCC, Lymphadenopathy neutropenia, lymphocytosis, AIHA Splenomegaly 2) Blood film- ↑ lymphocytes, smear Fatigue, infections, bruising cells Constitutional symptoms 3) Bone marrow aspirate/ lymph node Asymptomatic biopsy 4) Cytogenetics, immunophenotyping, molecular tests Management WATCH & WAITAPPROACH Chemotherapy, immunotherapy, blood transfusions Look out for Richter’s transformationWHAT DO YOU SEE IN THIS PERIPHERAL BLOOD FILM? SMUDGE/ SMEAR CELLS Timothy C Carll, ASH, 2018 CHRONIC MYELOID LEUKAEMIA What is the ‘famous’ chromosome found as a result of gene translocation in CML? Wikipedia CHRONIC MYELOID LEUKAEMIA Presentation Diagnosis- 4 ways 55-60 years 1) Bloods- anaemia, thrombocytosis, Splenomegaly ↑neutrbasophils eosinophils, ↑ Fatigue 2) Peripheral blood film- ↑ nucleated Weight loss, night cells (neutrophils, eosinophils, sweats basophils), ↑ platelets 3) Bone marrow aspirate- not super Asymptomatic important (except in blast crisis) 4) Cytogenetics/ FISH- look for t(9;22) or BCL::ABL1 Chronic Accelerated Blast PHILEDELPHIA CHROMOSME Wikipedia Gordana Raca, ASH, 2015WHAT IS THE ‘GAME CHANGING’ DRUG FOR CML? Tyrosine Kinase Inhibitors Reduces tyrosine kinase production to go against the effect of t(9;22) Imatinib QUESTION 1 A 74 year old male presents to the haematology clinic with fatigue, an ongoing chest infection and noticeable weight loss over the past 6 weeks. He has type 2 diabetes mellitus and takes metformin. He has no allergies. He has a family history of prostate cancer. He smokes 10 cigarettes a day and drinks 8 units of alcohol a week. He used to be a lorry driver. His observations are normal apart from a temperature of 38 degrees Celsius. On examination, he is pale and has petechiae on his chest. Results from his FBC are on the right: Given the presentation, what is the most likely underlying diagnosis? A) Acute Lymphoblastic Leukaemia Haemoglobin g/L 93 B) Acute Myeloid Leukaemia Platelets x 𝟏𝟎 g/L100 𝟗 C) Chronic Lymphocytic Leukaemia WBC x 𝟏𝟎 g/L 2 D) Chronic Myeloid Leukaemia Neutrophils 1 E) Small Cell Lung Cancer Lymphocytes 4 ANSWER-QUESTION 1 A 74 year old male presents to the haematology clinic with fatigue, an ongoing chest infection and noticeable weight loss over the past 6 weeks. He has type 2 diabetes mellitus and takes metformin. He has no allergies. He has a family history of prostate cancer. He smokes 10 cigarettes a day and drinks 8 units of alcohol a week. He used to be a lorry driver. His observations are normal apart from a temperature of 38 degrees Celsius. On examination, he is pale and has petechiae on his chest. Results from his FBC are on the right: Given the presentation, what is the most likely underlying diagnosis? A) Acute Lymphoblastic Leukaemia -no lymphocytosis Haemoglobin g/L 93 B) Acute Myeloid Leukaemia Platelets x 𝟏𝟎 100 g/L C) Chronic Lymphocytic Leukaemia- no lymphocytosis WBC x 𝟏𝟎 g/L 2 D) Chronic Myeloid Leukaemia- no leucocytosis or splenomegaly Neutrophils 1 E) Small Cell Lung Cancer Lymphocytes 4 QUESTION 2 A 60 year old female presents to the haematology clinic with fatigue. On examination, the below:ologist finds splenomegaly. Laboratory investigations are done including blood film Based on the presentation and blood film, what is the most likely diagnosis? A) Acute Lymphoblastic Leukaemia B) Acute Myeloid Leukaemia C) Chronic Myeloid Leukaemia D) Iron deficiency anaemia E) Sickle cell anaemia John Goldman, BMJ, 1997 ANSWER-QUESTION 2 A 60 year old female presents to the haematology clinic with fatigue. On examination, the haematologist finds splenomegaly. Laboratory investigations are done including blood film below: Many neutrophils Blast Basophil Based on the presentation and blood film, what is the most likely diagnosis? A) Acute Lymphoblastic Leukaemia B) Acute Myeloid Leukaemia C) Chronic Myeloid Leukaemia D) Iron deficiency anaemia E) Sickle cell anaemia John Goldman, BMJ, 1997HAEMATOLOGICAL MALIGNANCIES Multiple Myeloma MULTIPLE MYELOMA DIAGNOSIS- 4 ways 1) Bloods- anaemia, ↑ESR, ↑Ca 2+, abnormal U&Es, serum protein electrophoresis 2) Peripheral Blood films- myeloma plasma cell, Rouleaux formation (stacked RBCs) 3) Bone marrow biopsy- > 10% Indiana University abnormal plasma cells 4) CT, PET, x-rays, urinary Bence Jones proteins SYMPTOMATIC MYELOMA: 10% abnormal plasma cells Paraprotein in blood or urine End organ damage (kidneys, bones) WHAT IS THE IMPORTANT FEATURE IN THIS PERIPHERAL BLOOD FILM? Myeloma cell- looks like an egg! Rouleaux formation Heather Smith, ASH, 2018 QUESTION 3 A 62 year old male presents with shortness of breath, weakness, abdominal pain and bone pain. His observations are within normal range. Laboratory investigations reveal a Hb of 97 g/L, calcium level of 3.2 mmol/L, raised inflammatory markers. Later, serum protein electrophoresis and bone marrow biopsy confirms the underlying diagnosis. What is the most important initial step in managing this patient? A) Bone marrow transplant B) Chemotherapy C) IV fluids D) Rasburicase E) Zoledronate ANSWER-QUESTION 3 A 62 year old male presents to A& E with shortness of breath, weakness, abdominal pain and bone pain. His observations are within normal range. Laboratory investigations reveal a Hb of 97 g/L, calcium level of 3.2 mmol/L and raised inflammatory markers. Later, serum protein electrophoresis and bone marrow biopsy confirms the underlying diagnosis. What is the most important initial step in managing this patient? A) Bone marrow transplant – treat hypercalcaemia first B) Chemotherapy – treat hypercalcemia first C) IV fluids First step in treating hypercalcemia D) Rabuscarise – used to treat tumour lysis syndrome E) Zoledronate– second step in treating hypercalcemia SBA TIPS Demographics Unique features ALL <5 years Affects children AML > 75 years Severe Auer Rods CLL 50s-60s years Most common leukaemia Smear cells Richter’s transformation CML 50s-60s years Thrombocytosis + splenomegaly Philadelphia chromosome Imatinib (TKIs) Multiple Myeloma 60s years CRAB Black patients TOPICS 1) Haematological malignancies 2) Anaemia 3) Bleeding disorders 4) Red cell disordersWHAT IS ANAEMIA? Hb < 115 g/L in women Hb < 130 g/L in menSigns & Symptoms of anaemiaWhat other result(s) in from blood tests are helpful in working out the cause/ type of anaemia? MCV Reticulocytes- ↑if bone marrow functioning Iron studies- iron deficiency anaemia LFTs- unconjugated hyperbilirubinemia in haemolysis WHAT ARE THE TYPES OF ANAEMIA? Microcytic Normocytic Macrocytic MCV< 80 MCV= 80-100 MCV> 100 Iron deficiency Haemolytic anaemia megaloblastic Non- Anaemia of chronic Haemorrhage disease Anaemia of chronic disease megaloblastic Thalassemia B12 deficiency Folate deficiency Alcoholism Hypothyroidism Hepatic disease QUESTION 4 A 32 year old female presents to her GP with tiredness over the last 2 months. She does not experience other symptoms and has normal periods every 4 weeks. She has no relevant past medical history, does not take any medications and has no allergies. She has a family history of IBS. She works as a school teacher and has been a vegan for years. There are no significant examination findings. Her blood results reveal a Hb of 100 g/L and an MCV of 78. Other laboratory results were not significant. Given her presentation, what is the most likely underlying cause of her anaemia? A) Malabsorption of iron B) Malignancy C) Menorrhagia D) Reduced absorption of B12 E) Reduced absorption of iron ANSWER-QUESTION 4 A 32 year old female presents to her GP with tiredness over the last 2 months. She does not experience other symptoms and has normal periods every 4 weeks. She has no relevant past medical history, does not take any medications and has no allergies. She has a family history of IBS. She works as a school teacher and has been a vegan for years. There are no significant examination findings. Her blood results reveal a Hb of 100 g/L and an MCV of 78. Other laboratory results were not significant. Given her presentation, what is the most likely underlying cause of her anaemia? A) Malabsorption of iron – no features of IBD or coeliac disease B) Malignancy – no features of malignancy like weight loss, rectal bleeding C) Menorrhagia – she does not have heavy periods D) Reduced absorption of B12 - she has a microcytic anaemia, not macrocytic E) Reduced absorption of iron Due to her vegan diet, not getting enough iron IRON DEFICIENCY ANAEMIA Presentation Diagnosis Mouth ulcers 1) FBC: ↓Hb, ↓MCV, ↓MCH Angular cheilitis 2) Iron studies: ↓iron, Symptoms of Atrophic ↓transferrin saturation, ↑TIBC anaemia glossitis 3) Blood film: hypochromic Asymptomatic Koilonychia microcytic cells Management Encourage increase in dietary iron Treat cause! Iron supplementation (oral) Referrals- over 60s urgent referral for colorectal cancer NORMAL IRON DEFICIENCY ANAEMIA Hypochromic microcytic Peter Maslak, ASH, 2008 Georgia B. Vogelsang, ASH, 2015 QUESTION 5 A 69 year old female presents to A&E with upper abdominal pain and haematemesis. She has a past medical history of CKD and osteoarthritis for which she takes ibuprofen daily. She has no allergies. Her Hb is 60 g/L. How should her anaemia be managed? A) Blood transfusion B) Erythropoietin C) IM hydroxocobalamin D) IV iron E) Oral iron ANSWER- QUESTION 5 A 69 year old female presents to A&E with upper abdominal pain and haematemesis. She has a past medical history of CKD and osteoarthritis for which she takes ibuprofen daily. She has no allergies. Her Hb is 58 g/L. How should her anaemia be managed? A) Blood transfusion This patient has a haemorrhage so that’s the main indication, if not bleeding Indicated if Hb< 70 g/L or 80 g/L in patients with ACS B) Erythropoietin – CKD anaemia is not causing her current drop in Hb C) IM hydroxocobalamin – used to treat pernicious anaemia or B12 deficiency D) IV iron – significant drop in pt’s Hb, used to treated iron deficiency if patients cannot take oral supplements E) Oral iron –significant drop in pt’s Hb TOPICS 1) Haematological malignancies 2) Anaemia 3) Bleeding disorders 4) Red cell disordersNORMAL CLOTTING What is the normal range for platelet count? 150- 400 x 𝟏𝟎 L What are some examples of bleeding disorders? Thrombotic Immune thrombocytopenia (ITP) Thrombocytopenic Isolated thrombocytopenia (platelets < 100) Purpura Usually self-limiting and due to viral infection Presentation: bruising, petechiae, epistaxis, bleeding gums Acute: < 3 months Persistent: 3-6 months Chronic: > 6 moths Management for all: Be careful with contact sports, head injury! Monitor platelet count weekly/ biweekly Further management: Steroids Tranexamic acid IVIG, rituximab, splenectomy https://am-medicine.com/thrombotic-thrombocytopenic- purpura-ttp-hus/WHAT IS THE IMPORTANT FEATURE IN THIS PERIPHERAL BLOOD FILM? TTP SCHISTOCYTES- RED CELL FRAGMENTS Shruti Bhandari, NEJM, 2019 QUESTION 6 A 7 year old male presents to the paediatric A & E unwell with tummy pains and bloody diarrhoea over the last few days following a trip to the farm. He has no significant birth or past medical history, has had all his vaccinations and does not have any allergies. His observations are normal and he is stable. On examination, the F2 notices a petechial rash on his abdomen. His blood results show anaemia, thrombocytopenia, raised WCC and CRP and raised urea and creatinine. Stool culture results are on the right: Given the presentation and blood results, what is the most likely diagnosis? A) Meningococcal septicaemia B) Haemolytic Uraemic Syndrome Stool culture resultPositive for C) Henoch-Schönlein purpura E.Coli O157 D) Immune thrombocytopenia E) Non-accidental injury ANSWER- QUESTION 6 A 7 year old male presents to the paediatric A & E unwell with tummy pains and bloody diarrhoea over the last few days following a trip to the farm. He has no significant birth or past medical history, has had all his vaccinations and does not have any allergies. His observations are normal and he is stable. On examination, the F2 notices a petechial rash on his abdomen. His blood results show anaemia, thrombocytopenia, raised WCC and CRP and raised urea and creatinine. Stool culture results are on the right: Stool culture result Positive for E.Coli O157 Given the presentation and blood results, what is the most likely diagnosis? A) Meningococcal septicaemia B) Haemolytic Uraemic Syndrome Triad of anaemia, thrombocytopenia and renal impairment, typical child with gastroenteritis C) Henoch-Schönlein purpura D) Immune thrombocytopenia E) Non-accidental injury Haemolytic Uremic Disseminated Intravascular Syndrome (HUS) Coagulopathy (DIC) Typically affects children Causes: Following exposure to E.Coli O157 1) Sepsis 2) Malignancy- AML-M3 Presents with features of gastroenteritis- 3) Obstetric complications bloody diarrhoea, abdominal pain, fever 4) Trauma Presents with renal impairment- Bloods: haematuria FBC- ↓platelets Coagulation screen- ↑PT, ↑APTT, ↓fibrinogen Presents with features of ↓platelets- bruising, petechiae Management: Treat underlying cause Management: Blood transfusions- platelets, FFP, cryoprecipitate Supportive Supportive NOTIFY PUBLIC HEALTH TOPICS 1) Haematological malignancies 2) Anaemia 3) Bleeding disorders 4) Red cell disordersProblem with the red cell membrane HEREDITARY SPHEROCYTOSIS Presentation Diagnosis Management Fatigue Bloods- normocytic anaemia, Blood transfusion Jaundice (neonatal) hyperbilirubinemia, reticulocytosisFolic acid Gallstones Blood film- spherocytes Splenectomy Splenomegaly EMA binding Northern Europe Family history- What is the issue with a splenectomy? autosomal dominant condition Risk of meningococcal, haemophilus, streptococcal infectionsWHAT IS THE IMPORTANT FEATURE IN THIS PERIPHERAL BLOOD FILM? SPHEROCYTES Rakesh Pimpaldara, ASH, 2021Problem with the red cell function G6PD Deficiency Diagnosis Presentation Management Bloods- normocytic Fatigue anaemic, Avoid trigger Jaundice (neonatal) hyperbilirubinemia, Blood transfusions Gallstones Splenomegaly reticulocytosis Mediterranean,African Blood film- Heinz Triggers! bodies, blister cells, Males- X-linked bite cells recessive G6PD enzyme assay (wait 3 months post trigger)What are the triggers for G6PD?G6PD BLOOD FILM FINDINGS bodies-vs-howell-jolly-bodies/heinz- QUESTION 7 A 9 year old girl presents to the haematologist with jaundice, tiredness and a large abdomen. She has no relevant past medical history, has had all her vaccinations, does not take medications and has no allergies. Her mother has a history of gallstones and had a splenectomy as a teenager. Given the most likely diagnosis, what is the most appropriate investigation to perform? A) EMA binding B) Genetic testing C) G6PD enzyme assay D) Haemoglobin electrophoresis E) Osmotic fragility ANSWER-QUESTION 7 A 9 year old girl presents to the haematologist with jaundice, tiredness and a large abdomen. She has no relevant past medical history, has had all her vaccinations, does not take medications and has no allergies. Her mother has a history of gallstones and had a splenectomy as a teenager. Given the most likely diagnosis, what is the most appropriate investigation to perform? A) EMA binding Due to presentation and mother, most likely has HS B) Genetic testing – although inherited condition, genetic test not necessary to confirm C) G6PD enzyme assay – AD inheritance points away from G6PD D) Haemoglobin electrophoresis – used to diagnose sickle cell and thalassemias E) Osmotic fragility – tests for HS but not commonly used anymoreProblem with the haemoglobin Sickle cell anaemia- HbSS Autosomal recessive, most commonly affects West African and Caribbean people Mutation causing abnormal beta globin chain, deoxygenation causes sickling which leads to vaso-occlusion & chronic haemolysis Many complications/ crises! Diagnosed using Hb electrophoresis + HPLC- look for HbS Antenatal screening! Managed with analgesia, acute/ chronic blood transfusions, hydroxyurea, folic acid, penicillin Problem with the haemoglobin Beta thalassemia Either reduced or lack of production of beta chains Either you: 1) Beta thalassemia trait/ minor (one beta thalassemia gene) 2) Beta thalassemia intermedia (two beta thalassemia genes but some ‘alleviating’ factor that protects against major) 3) Beta thalassemia major (two beta thalassemia genes, transfusion dependent) Diagnose beta thalassemia trait using genetic testing Hb electrophoresis and HPLC for intermedia and major- increased HbA2 Antenatal screening! QUESTION 8 A 32 year old female with sickle cell anaemia presents to A&E with chest pain, breathlessness and a fever. Her observations reveal a temperature of 38.1 degrees Celsius, heart rate of 98 and a respiratory rate of 24. A chest x-ray is performed and shown below: What is the most likely diagnosis? A) Aplastic crisis B) Acute chest syndrome C) Haemolytic crisis D) Pain crisis E) Sequestration crisis ANSWER-QUESTION 8 A 32 year old female with sickle cell anaemia presents to A&E with chest pain, breathlessness and a fever. Her observations reveal a temperature of 38.1 degrees Celsius, heart rate of 98 and a respiratory rate of 24. A chest x-ray is performed and shown below: What is the most likely diagnosis? A) Aplastic crisis – very low Hb and reticulocytes triggered by parvovirus B19 B) Acute chest syndrome Typical presentation with opacification in the right lower lobe (can be bilateral opacification) C) Haemolytic crisis – low Hb, reticulocytes increased D) Pain crisis – patient has chest symptoms E) Sequestration crisis – occurs when there is pooling of blood in spleen Thank you Questions Please leave some feedback!