Haematology Flashcards
What is the clinical presentation of anaemia in general?
Anaemia:
- Fatigue
- Low energy
- Pallor
- Dyspnoea on exertion.
What are the specific clinical signs/symptoms of iron deficiency anaemia?
Signs:
- Restless leg syndrome.
- Glossitis
- Angular stomatitis.
- Nail spooning/flattening.
Symptoms:
- Unusual cravings for non-food items.
What is the histological presentation of:
Iron deficiency anaemia?
Pernicious anaemia?
Folate-deficiency anaemia?
Haemolytic anaemia?
Sickle cell anaemia?
IDA - Microcytic, hypochromic.
PA - Macrocytic megaloblastic.
FDA - Macrocytic megaloblastic.
HbA - Normocytic, normochromic.
HbS - Sickled cells
What are the main risk factors for iron deficiency anaemia?
- Pregnant.
- Vegan/vegetarian.
- Menorrhagia.
- Coeliac.
- Excessive NSAID use (causes peptic ulcers).
- CKD (low erythropoietin).
What are the diagnostic tests for iron deficiency anaemia?
- Low serum iron and low serum ferretin.
- FBC: Low Hb
- MCV: Low
- MCHC: Low
- Blood smear: Microcytic, hypochromic.
- Low reticulocytes.
What is the treatment for iron deficiency anaemia?
- 1st line: Ferrous sulfate (orally).
- 2nd line: IV iron (used if ferrous sulfate is intolerated or the individual has IBD.)
- RBC transfusion. Used if the individual begins to present with symptoms of CV compromise (chest pain, dyspnoea on rest).
What is pernicious anaemia?
- Autoimmune disorder.
- Destruction of the parietal cells of the stomach (that secrete IF) and production of intrinsic factor antibodies.
- Causes malabsorption of B12, as If is required for the cotransportation process used for B12 absorption.
What are the specific signs/symptoms of pernicious anaemia?
B12 deficiency - Neurological problems:
Abnormal gait
Decreased vibration sense
Peripheral neuropathy
What are the risk factors for pernicious anaemia?
- Vegan.
- Over 65.
- Metformin.
- PPI (omeprazole) or H2 antagonist (famotidine).
What are the investigations used to confirm diagnosis of pernicious anaemia?
FBC - MCV increased.
Blood film - Shows macrocytic, megaloblastic RBCs with hypersegmented neutrophils. (SAME AS FOLATE-DEFFICIENCY ANAEMIA).
Intrinsic factor antibody test - Presence of these antibodies proves pernicious anaemia.
What is the treatment for pernicious anaemia?
- Give hydroxocobalamin, a B12 analogue (1st line)
- If there are neuro symptoms, refer to neurology/haematology.
What are the risk factors for folate-deficiency anaemia?
- Pregnancy/lactation.
- Old age.
- Chronic alcohol abuse.
- Low folate diet.
- FH.
- Coeliac disease.
Use of certain drugs:
- Trimethoprim.
- DMARDS (sulfasalazine, methotrexate).
- Anticonvulsants.
(therefore these drugs are contraindicated in pregnancy).
What are the signs/symptoms specific to haemolytic anaemia?
Limited specific signs.
Potentially there will be:
- Jaundice (due to increased bilirubin from RBC breakdown).
- Splenomegaly.
What are the investigations used to diagnose folate-deficiency anaemia?
- FBC. Raised MCV and MCHC.
- Blood film. Macrocytic, megaloblastic cells with hypersegmented neutrophils.
- Serum folate: 1st line screening tool.
- RBC folate: Gold standard. More sensitive than serum folate, but more expensive/complex.
What are the signs/symptoms specific to folate deficiency anaemia?
- NO NEUROLOGICAL SYMPTOMS (would be seen in B12 deficiency anaemia).
- Potentially glossitis, and angular stomatitis if severe.
What is the treatment for folate-deficiency anaemia?
- Folic acid oral (1st line).
- Consider RBC transfusion if severely anaemic.
- Women planning/currently pregnant should be taking folic acid to reduce risk of neural tube defects.
What is haemolytic anaemia?
A number of conditions that occur due to increased destruction of RBCs.
What type of anaemia is haemolytic anaemia?
- Normocytic usually.
What are the differentials for haemolytic anaemia?
- Blood loss.
- Transfusion reaction.
- Underproduction anaemia. Caused by reduced production of RBCs rather than increased breakdown. Will therefore have a low reticulocyte count (would be high in haemolytic anaemia).
What are the risk factors for haemolytic anaemia?
- FH.
- Autoimmune disorders (especially SLE).
- CLL
- Cephalosporins.
What are the investigations used to diagnose haemolytic anaemia?
FBC - Reduced Hb
MCHC - Increased MCHC due to high amount of reticulocytes.
Reticulocyte count - raised
Blood film - Generally normocytic, but presence of abnormal RBC’s can help diagnose the specific type of haemolytic anaemia.
Coomb’s test - If positive indicates an autoimmune cause of haemolytic anaemia.
Consider ANA if SLE suspected.
What is the treatment for haemolytic anaemia?
Blood transfusions + folic acid.
- If coomb’s test +ve, give prednisolone (reduces production of autoantibodies that drive RBC breakdown in autoimmune haemolytic anaemia).
- If caused by a drug (commonly cephalosporins) give prednisolone and discontinue the drug.
What is sickle cell anaemia?
- Hereditary deformation of RBC’s as a result of faulty Hb molecule formation.
What is the clinical presentation specific to sickle cell anaemia?
- Vaso-occlusion. Early childhood acute pain in the hands and feet due to small vessel occlusion.
- In adults, pain in the long bones, ribs, spine and pelvis too.
- OFTEN SYMPTOMS OF ANAEMIA DO NOT APPEAR AS HbS HAS A LOW OXYGEN AFFINITY.
- If they do appear, anaemic symptoms are:
- Tiredness
- Fatigue
- Dyspnoea
- Palpitations
- Headache
- Faintness
What is the pathophysiology of sickle-cell anaemia?
- Changes in sequence of haemoglobin subunit causes faulty structure.
- Distorts erythrocyte shape, making them sickle shaped.
- Sickle cell RBC’s block vessels easily, and are easily destroyed.
What is the investigation used for sickle cell anaemia?
- Usually identified in neonatal screening.
- Otherwise, identified by presence of sickle cells on blood film.
What is the treatment for sickle cell anaemia?
- Anaphylactic penicillin until 5 years old (children). Because they are at substantially increased risk of invasive pneumococcal infection.
- Hydroxycarbamide. Manages the pain.
- Potentially blood transfusion.
- Bone marrow stem cell transfusion if disease severe - still a very new treatment.
What is the alternative name for folic acid?
B9
What is a DVT?
- Development of a blood clot in a major deep vein.
What is the clinical presentation of a DVT?
- Calf swelling.
- Localised pain and redness.
What are the risk factors for a DVT?
- Bedridden.
- Cancer.
- Older age.
- Recent long-haul travel.
- Hypercoagulation disorder.
How is the likelihood of a DVT assessed and subsequently what tests are done?
Use Well’s score:
- If Well’s <2: Do a D-dimer. If +ve, move on to venous ultrasound.
- If Well’s ≥2: Straight to venous ultrasound.
What is the treatment for a DVT?
- Apixiban (anticoagulant) for at least 3 months.
What is the main complication associated with DVT?
Pulmonary embolism (PE).
What is polycythaemia vera?
- A Philadelphia chromosome -ve myeloproliferative disorder.
- Characterised by erythrocytosis.
- Often also causes thrombocytosis, leukocytosis and splenomegaly.
What genetic mutation is commonly linked to polycythaemia vera?
- JAK2 mutation.
When is polycythaemia vera considered?
- Patient over 40 presenting with thrombosis/haemorrhage.
What are the signs/symptoms of polycythaemia vera?
Signs:
- Thrombosis (MI, stroke, DVT, PE)
- Erythromelalgia (red fingers, palms and toes).
- Splenomegaly.
Symptoms:
- Headache.
- Pruritus.
- Fatigue.
What are the investigations used for polycythaemia vera, and what are the usual findings?
What is the genetic test used?
- FBC: Raised Hb, WCC, platelets.
- Low erythropoietin (-ve feedback to erythrocytosis).
- Genetic test for JAK2 mutation: +ve.
What is the treatment for polycythaemia vera?
- Low dose aspirin.
- Phlebotomy (500ml of blood replaced with saline 2x per week).
IF HIGH RISK: Hydroxycarbamide (cytoreductive therapy).
What are the two main platelet disorders I need to be aware of?
- Immune thrombocytopenic purpura (ITP)
- Thrombotic thrombocytopenic purpura (TTP)
What is immune thrombocytopenic purpura?
- Haematological disorder characterised by an ISOLATED low platelet count (thrombocytopenia).
What are the key signs/symptoms for immune thrombocytopenic purpura?
Symptoms: Fatigue.
Signs: Bleeding (esp. gums), bruising, petechiae (small purple/red spots on the skin).
What are the investigations used and the findings in suspected ITP?
- FBC. Isolated low platelets (thrombocytopenia).
NOTE: If history involves heavy bleeding, Hb may also be slightly low. However, this is not a requirement for diagnosis. - Blood smear. No evidence of myelodysplasia.
What is the treatment for ITP?
- Corticosteroids (prednisolone).
What is thrombotic thrombocytopenic purpura?
- Thrombocytopenia AND haemolytic anaemia.
What are is the diagnostic pentad for TTP?
Characteristic pentad:
- Thrombocytopenic purpura.
- Microangiopathic haemolytic anaemia.
- Acute renal insufficiency.
- Neurological abnormality.
- Fever.
What are the investigations/results for suspected TTP?
FBC: Low platelets (thrombocytopenia) and low haemoglobin (anaemia).
Blood smear: schistocytes present (red blood cell fragments due to the microangiopathic anaemia).
Raised urea/creatinine: Acute renal insufficiency.
Urine analysis: Proteinuria.
What is the treatment for TTP?
- Plasma exchange.
- Prednisolone (corticosteroids).
What are the 4 main types of leukaemia?
- ALL. Acute lymphoblastic leukaemia.
- CLL. Chronic myeloblastic leukaemia.
- AML. Acute myeloid leukaemia.
- CML. Chronic myeloid leukaemia.
What are the key defining characteristics of ALL?
- Childhood leukaemia. (Under 20).
- Cancer of lymphoid progenitors.
What are the key defining characteristics of CLL?
- Smudge cells on blood film.
- Cancer of B-cells (lymphoblastic lineage).
What are the key defining characteristics of AML?
- Auer rods inside myeloblasts on blood film.
- Develops when CML progresses.
- Cancer of myeloid progenitors.
What are the key defining characteristics of CML?
- Philadelphia chromosome strongly associated.
- Eventually progresses to AML.
- Cancer of myeloid progenitors.
What are the key investigations used when leukaemia is suspected?
- FBC + differential.
- Blood smear.
- Bone marrow biopsy.
What are the generic symptoms for leukaemia?
What are the two symptoms that can differentiate leukaemia from other cancers?
- Weight loss.
- Fatigue.
- Fever.
- Pallor.
KEY SYMPTOMS SUGGESTIVE OF LEUKAEMIA RATHER THAN OTHER CANCER:
- Petechiae.
- Abnormal bleeding.
What are the treatments used for leukaemia?
(2 specific named drugs)?
- Rituximab (immunotherapy). CD20-targeting monoclonal antibody. Used for ALL, CLL.
- Imatinib (tyrosine kinase inhibitor). Used for CML.
- Stem cell transplant is an option for all leukaemia.
- Chemotherapy and immunotherapy are mainstays of treatment.
What is haemophillia?
- Bleeding disorder that results from the deficiency of a coagulation factor.
What is the difference between haemophilia A and B?
Haemophilia A - reduction/absence of factor VIII.
Haemophilia B - reduction/absence of factor IX.
What is the inheritance pattern of haemophilia?
- X linked recessive.
What is the typical clinical presentation of haemophilia?
- Male w/ family history
- Recurrent and/or severe bleeding.
- Epistaxis
- Gum bleeding.
- Easy bruising.
What are the investigations used for haemophilia?
- aPPT (intrinsic pathway measure). Will be raised.
- Factor VIII/IX assay. Will show decrease/absence of one of the factors, and differentiate types A and B.
What is the treatment for haemophilia?
- Factor VIII (type A) or factor IX (type B) concentrate given once daily.
What is malaria?
A parasitic infection of the erythrocytes, usually caused by plasmodium falciparum.
How is malaria transmitted?
- Female mosquito bites.
- Can also be transmitted via blood transfusion/organ transplant.
What is the typical clinical presentation of malaria?
- RECENT TRAVEL HISTORY.
- Fever
- Chills
- Headache
- Arthralgia/myalgia.
What diagnostic testing is used for malaria?
- Rapid diagnostic testing (skin-prick) is first line, as it is cheap and quick. However, only reliable in testing for P. Falciparum, not other types of plasmodium.
- Light microscopy with giemsa stained blood film. GOLD STANDARD.
What is the treatment for malaria?
- Piperaquine infusion (anti-malarial drug).
What is multiple myeloma?
- Malignant disease of the bone marrow plasma cells.
What is the clinical presentation of multiple myeloma?
REMEMBER “CRAB”:
- hyperCalcaemia
- Renal impairment
- ANAEMIA
- BONE PAIN
What are the risk factors for MM?
- Abnormal free light-chain ratio.
- FH
- Radiation exposure.
What is the epidemiology of multiple myeloma?
- Peak presentation at 70 years old.
What are the investigations used for multiple myeloma?
- Bone marrow biopsy. Will show plasma cell infiltration in the bone marrow (gold standard).
What is the treatment for multiple myeloma?
Chemotherapy (Thalidomide) + dexamethasone (corticosteroids).
- Stem cell transplant (if illegible).
What are the two types of lymphoma and how are they differentiated?
- Hodgkins lymphoma. Containts Reed-sternberg cells.
- Non-hodgkins lymphoma. Doesn’t contain Reed-sternberg cells.
What is the clinical presentation of lymphoma?
What are aspects of clinical presentation are specific to HL?
Low grade lymphoma may be asymptomatic.
Presentation:
- LYMPHADENOPATHY.
- Fever
- Fatigue
- Weight loss
- Night sweats
Specific to HL:
- Pruritus.
- Alcohol-triggered lymph node pain.
- MORE COMMON IN YOUNG ADULTS THAN NHL.
What are the key investigations for suspected lymphoma?
- FBC with differential. Thrombocytopenia (Low Platelets), leukocytosis (Increased WCC). LOW HAEMOGLOBIN IF HODGKINS.
- Lymph node biopsy. Differentiates between HL and NHL.
- Full body CT. Look for metastases.
- Lactate dehydrogenase. Level of elevation is an important prognostic factor.
What is the treatment for non-Hodgkins lymphoma?
- Chemo with R-CHOP regimen.
- Rituximab, cyclophosphamide, Doxorubicin, vinicristine and prednisolone.
What is the treatment for Hodgkins lymphoma?
- Chemo (ABVD regiment).
- Radiotherapy.