Haematology Flashcards
Define anaemia
A low level of haemoglobin in the blood.
Examples of microcytic anaemia
TAILS
Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
Examples of normocytic anaemia
3 As and 2 Hs
Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
Examples of macrocytic anaemia
Megaloblastic - B12, folate deficiency
Normoblastic - alcohol, reticulocytosis, hypothyroidism, liver disease, azathioprine.
History of anaemia
Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions
Iron deficient
Pica - crave abnormal things like dirt
Hair loss
Clinical signs of anaemia
Pallor
Tachycardia
Raised respiratory rate
Koilonychia - iron
Angular cheilitis - iron
Atrophic glossitis - iron
Brittle hair - iron
Jaundice - haemolytic
Bone deformities - thalassaemia
Oedema HTN and excoriations - CKD
Investigations in anaemai
Bloods - MCV, B12, folate, ferritin, film
OGD + colonoscopy - cancer?
Bone marrow biopsy if cause unclear
Causes of iron deficiency anaemia
Insufficient dietary iron
Increased requirements - pregnancy
Iron being lost - slow bleed, colon cancer
Inadequate iron absorption
Most common cause - menorrhagia
Management of iron deficiency anaemia
Investigate cause - ?cancer
Blood transfusion
Iron infusion
Oral iron supplement
Define pernicious anaemia
An autoimmune condition attacking the parietal cells or intrinsic factor. This prevents the absorption of vitamin B12 and they become deficient.
History of B12 deficiency
Peripheral neuropathy
Loss of vibration sense or proprioception
Visual changes
Mood or cognitive change
Management of pernicious anaemia
If dietary deficient - cyanocobalamin
IM hydroxocobalamin - B12 replacement
Treat B12 before folate -spinal cord degeneration
Define haemolytic anaemia
Anaemia caused by the destruction of red blood cells. Caused often by inherited condition .
Inherited haemolytic anaemias
Hereditary spherocytosis
Hereditary elliptocytosis
Thalassaemia
Sickle cell anaemia
G6PD dificiencty
Acquired haemolytic anaemia
Auto immune
Alloimmune - transfusion reactions, haemolytic disease of newborn
Paroxysmal nocturnal haemoglobinuria
Microangiopathic haemolytic anaemia
Prosthetic valve related
Clinical signs of haemolytic anaemia
Splenomegaly
Jaundice
Normocytic anaemia
Investigations in haemolytic anaemia
FBC - normocytic anaemia
Film - schistocytes
Direct coombs test - positive in autoimmune haemolytic anaemia
Define hereditary spherocytosis
Most common inherited haemolytic anaemia - causing sphere shaped red blood cells that are fragile and easily broken down when passing through the spleen
History of hereditary spherocytosis
Jaundice
Gall stones
Splenomegaly
Aplastic crisis - parvovirus
Management of hereditary spherocytosis
Folate supplementation
Splenectomy
Cholecystectomy - stones
Define G6PD deficiency
Defect in the red blood cell enzyme G6PD
X linked recessive condition causing crises that are triggered by infection medications or fava beans.
Classic presentation of G6PD deficieny
Mediterranean or African patient turns jaundiced and anaemic after eating broad beans, an infection or treatment with antimalarials.
What is seen on blood fil in G6PD deficiency
Heinz bodies - individual blobs seen inside rbcs - denatured globin.
Define target cells
Central pigmented area surrounded by a pale arrea, surrounded by a ring of thicker cytoplasm on the outside - bull’ eye
What conditions would you see target cells in
Iron deficiency anaemia
Post splenectomy
Define Howell-Jolly bodies
Individual blobs of DNA material seen inside RBCs,
What conditions would you see Howell-Jolly bodies in
Post splenectomy
Severe anaemia
Define reticulocytes
Immature RBCs - still have RNA in, appears in a mesh like (reticular) pattern
What conditions would you see reticulocytes in
Normal to have 1% or RBCs as reticulocytes
Goes up if increased turnover
Haemolytic anaemia
Define schistocytes
Fragments of red blood cells - indicate physical damage by trauma
What conditions would you see schistocytes in
Networks of small clots
Haemolytic uremic syndromes
DIC
TTP
Metallic heart valves
Haemolytic anaemia
Define sideroblasts
Immature RBCs that contain blobs of iron
What conditions would you see sideroblasts in
Myelodysplasic syndrome
Define smudge cells
Ruptured white blood cells occur during the process of preparing the blood film due to aged or fragile cells
What conditions would you see smudge cells in
Chronic lymphotic leukaemia
Define spherocytes
Spherical red blood cells
What conditions would you see spherocytes in
Autoimmune haemolytic anaemia
Hereditary spherocytosis
Define thalassaemia
A autosomal recessive genetic defect that changes the protein chains that make up haemoglobin.
Define thalassaemia
A autosomal recessive genetic defect that changes the protein chains that make up haemoglobin.
Define thalassaemia
A autosomal recessive genetic defect that changes the protein chains that make up haemoglobin.
Clinical signs of thalasaemia
Microcytic anaemia
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth and development
Pronounced forehead and malar eminences
Investigations in thalassaemia
FBC
Haemoglobin electrophoresis
DNA testing
Screening in pregnancy
Features of iron overload
Fatigue
Liver cirrhosis
Infertility
Heart failure
Arthritis
Diabetes
Osteoporosis and joint pain
Define alpha-thalassaemia
Thalassaemia caused by defects in the alpha globin chain - issues with chromosome 16
Management of alpha thalassaemia
Monitoring FBC
Monitoring complication
Blood transfusions
Splenectomy
Bone marrow transplant - can be currative
Define beta thalassaemia
Defects in the beta globin chains - defect on chromosome 11
Define beta thalassaemia minor
Carriers of abnormal gene - one abnormal and one normal.
Causes mild microcytic anaemia - often no active treatment
Define beta thalassaemia intermedia
Two abnormal copies of the beta globin gene - either two defective or one defective and one deletion
Define beta thalassaemia major
Patients who are homozygous for the deletion genes - no functioning beta-globin gene
Severe microcytic anaemia, splenomegaly, bone deformities
Define sickle Cell anaemia
A autosomal recessive condition causing production of sickle shaped RBCs. Defect on chromosome 11 on the beta globin gene. Makes RBCs more fragile leading to haemolytic anaemia.
What affect does sickle cell disease have on malaria
Having one copy of the sickle-cell trait reduces the severity of malaria
Investigations in sickle cell anaemia
Newborn screening heel prick
Film
Complications of sickle cell anaemia
Anaemia
Increased risk of infection
Stroke
Avascular necrosis
Pulmonary hypertension
Priapism
CKD
Sickle cell crises
Acute chest syndrome
Management of sickle cell anaemia
Avoid dehydration
Ensure vaccines up to date
Antibiotic prophylaxis
Hydroxycarbamide - stimulate HbF production
Blood transfusion - in severe anaemia
Bone marrow transplant - can be curative
Define sickle cell crises
Ubrella term for a spectrum of acute crises related to the condition
Range from mild to life threatening, can be spontaneous or triggered by infection, dehydration, cold or significant events
Examples of sickle cell cises
Vaso-occlusive crisis - painful crisis
Splenic sequestration crisis
Aplastic crisis
Acute chest syndrome
Define vaso-occlusive crisis
Caused by sickle shaped blood cells clogging capillaries causing distal ischaemia - associated with dehydration and raised haemocrit.
Presentation of vaso-occlusive crisis
Pain
Fever
Triggering infection
Priapism - urological emergency
Define splenic sequestration crisis
Caused by red blood cells blocking blood flow within the spleen - acutely enlarged and painful spleen
Leads to pooling of blood in the spleen, severe anaemia and circulatory collapse
Management of splenic sequestration
Supportive
Blood transfusion
Fluid resuscitation
Splenectomy
Define aplastic crisis
Describes a situation where there is temporary loss of the creation of new blood cells
Causes significant anaemia requiring blood transfusion - is often transient
Cause of aplastic crisis
Parvovirus B19
Define acute chest syndrome
Fever or respiratory symptoms with new infiltrates seen on CXR
Management of acute chest syndrome
Abx or antivirals
Blood transfusion
Incentive spirometry - encourages deep breathing
Artificial ventilation - NIV
Define leukaemia
Cancer of a particular line of the stem cells in bone marrow causing unregulated production of certain blood cells.
Main types of leukaemia
Acute myeloid leukaemia
Acute lymphoblastic leukaemia
Chronic myeloid leukaemia
Chronic lymphocytic leukaemia
What ages do the leukaemia occur
ALL CeLLmates have CoMmon AMbition
Under 5 and >45 - ALL
>55 - CLL
>65 - CML
>75 - AML
History of leukaemia
Fatigue
Fever
Failure to thrive
Pallor
Petechiae and abdominal bruising due to thrombocytopaenia
Abnormal bleeding
Lymphadenopathy
Hepatosplenomegaly
Differentials for petechiae
Leukaemia
Meningococcal septicaemia
Vasculitis
Henoch-Schonlein purpura
Idiopathic thrombocytopenia purpura
NAI
Investigations in leukaemia
FBC!!
Blood film
Lactate dehydrogenase - raised but not specific
Bone marrow biopsy
CXR
Lymph node biopsy
Lumbar puncture - CNS involvement
CT, MRI, PET
Define acute lymphoblastic leukaemia
Malignant change to one of the lymphocyte precursor cells - causes acute prolifferation of a single type of lymphocyte (usually B-lymphocytes)
What is seen on blood film in ALL
Blast cells
What genetics are associated with ALL
Philadelphia chromosome
Define Chronic lymphocytic leukaemia
Chronic proliferation of a single type of well differentiated lymphocyte (usually B). Occurs in older ages. Easily transforms into high grade lymphoma - Richter’s transformation
What is seen on blood film in CLL
Smear or smudge cells
Define chronic myeloid leukaemia
Malignant production of myoblasts
What are the phases of CML
Chronic
Accelerated
Blast
What is the chronic phase of CML
Lasts around 5 years and is often asymptomatic and is diagnosed incidentally
What is the accelerated phase of CML
Occurs where the abnormal blast cells take up high proportion of cells in the bone marrow and blood - patients become more symptomatic, anaemia and thrombocytopaenia and immunocompromised
What is the blast phase of CML
Follow acceleratsed phase and involves even high proportions of blast cells - severe symptoms and is often fatal
What genetics are associated with CML
Philadelphia chromosome
Define AML
Most common type of leukaemia with a few differnt types.
What is seen on AML blood film
High proportion of blast cells
These blasts have rods in the Auer rods
Management of leukaemia
Chemo
Steroids
Radio
Bone marrow transplant
Surgery
Complications of leukaemia
Failure
Stunted growth
Infections
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
Tumour lysis syndrome
Define tumour lysis syndrome
Caused by the release of uric acid from cells that are being destroyed by chemotherapy
Management of tumour lysis syndrome
Allopurinol
Rasburicase
Reduce uric acid levels
Monitor potassium and phosphate
Define lymphoma
A group of cancers that affect the lymphocytes inside the lymphatic system. These cancerous cells proliferate within the lymph nodes and cause them to become abnormally large
Main types of lymphoma
Hodgkin’s
Non-Hodgkin’s
Define Hodgkin’s lymphoma
Lymphoma with the presence of Reed-Sternberg cells on biopsy, 1 in 5 are Hodgkin’s.
Peak ages are 20 and 75
Risk factors for Hodgkin’s lymphoma
HIV
Epstein-Barr virus
Autoimmune conditions - rheumatoid, sarcoid
FH
History of Hdogkin’s lymphoma
Enlarged non tender rubbery lymph node - often neck, axilla or inguinal.
Fever
Weight loss
Night sweats
Fatigue
Itching
Cough
Shortness of breath
Abdo pain
Recurrent infections
Investigations in Hodgkin’s lymphoma
Lactate dehydrogenase - not specific
Lymph biopsy - reed sternberg
CT, MRI, PET
What is seen on biopsy of Hodgkin’s lymphoma
Reed-Sternberg cell
What staging system is used for lymphoma
Ann Arbor staging -
Stage 1 - confined to one region of lymph nodes
Stage 2 - mor than one region but same side of diaphragm
Stage 3 - lymph nodes above and below diaphragm
Stage 4 - widespread involvement including non-lymphatic organs
Management of Hodgkin’s lymphoma
Chemo - risk of leukaemia and infertility
Radio - risk of other cancers, damage to tissue, hypothyroidism
Define non-hodgkin’s lymphoma
Any lymphoma with out the presence of Reed-Sternberg cells
Examples of non-hodgkin’s lymphoma
Burkitt lymphoma
MALT lymphoma
Diffuce large B cell lymphoma
Risk factors for non-hodgkin’s lymphoma
HIV
EBV
H. pylori - MALT
Hep B or C
Pesticides - trichloroethylene
FH
Management of non-hodgkin’s lymphoma
Watchful waiting
Chemo
Monoclonal antibodies
Radiotherapy
Stem cell transplant
Define myeloma
Cancer of the plasma cells - b lymphocytes that produce antibodies
Define multiple myeloma
Where myelomas affect multiple areas of the body.
Define myeloma bone disease
Results from increased osteoclast activity and suppressed osteoblast resulting in more bone being reabsorbed
Complications of myeloma
Pathological fractures
Hypercalcaemia
Myeloma renal disease
Infection
Pain
Renal failure
Anaemia
Hypercalcaemia
Peripheral neuropathy
Spinal cord compression
Hyperviscocity
Define myeloma renal disease
Development of renal impairment as a result of myeloma by causing -
High levels of Ig block the tubules
Hypercalcaemia
Dehydration
Medication
Features of myeloma
CRAB
Calcium - elevated
Renal failure
Anamia - normocytic, replacement of bone marrow
Bone lesions/pain
Risk factors for myeloma
Age
Male
Black african
FH
Obesity
Investigations in myeloma
FBC, Calcium, ESR, plasma viscosity, serum protein electrophoresis
BLIP
Bence-Jones protein - urine electrophoresis
Light chain assay
Immunoglobulins
Protein electrophoresis
Bone marrow biopsy
XR, MRI, CT
Signs of myeloma on xray
Punched out lesions
Lytic lesions
Raindrop skull
Management of myeloma
Chemo
Stem cell transplant
VTE prophylaxis
Bisphosphonates
Radio - bones
Orthopaedic surgery
Cement augmentation
Manage complications of myeloma
What genetics are myeloproliferative disorders associated with
JAK2
MPL
CALR
Define meyloproliferative disorders
Uncontrolled proliferation of a single type of stem cell - have potential to progress to AML
Examples of myeloproliferative disorders
Primary myelofibrosis - haemoatopoietic stam cells
Polycythaemia Vera - reythroid cells
Essential thrombocythaemia - megakaryocytes
Define myelodysplastic syndrome
Caused by bone marrow cells not maturing properly and not producing healthy blood cells/
Define thrombocytopenia
Low platelet count
Causes of poor platelet production
Sepsis
B12 or folate deficiency
Liver failure
Leukaemia
Myelodysplastic syndrome
Causes of platelet destruction
Medication - sodium valproate, methotrexate, isotretinoin, antihistamines, PPIs,
Alcohol
Immune thrombocytopenic purpura
TTP
Heparin induced thrombocytopenia
Haemolytic-uraemic syndrome
History of thrombocytopenia
Incidental
Spontaneous bruising
Prolonged bleeding - nosebleeds, gums, heavy periods, blood in urine/stool
Define immune thrombocytopenic purpura
Also called autoimmune, idiopathic and primary
Condition where antibodies are created against platelets
Management of immune thrombocytopenic purpura
Prednisolone
IV Ig
Rituximab
Splenectomy
Define thrombotic thrombocytopenic purpura
Conition where tiny blood clots develop throughout small vessels using up platelets causing thrombocytopenia, bleeding under the skin and other systemic issues. affectrs small vessesl so is a microangiopathy.
Management of TTP
Plasma exchange
Steroids
Rituximab
Define von Willebrand disease
Deficiency, absence or malfunctioning of von Willebrand factor often caused by an autosomal dominant gene
History of von Willebrand disease
Bleeding!
Bleeding gums
Nose bleeds
Heavy menstrual
During surgery or trauma
FH!
Management of von Willebrand disease
Managed only in response to major bleeding or trauma, or in preperation for surgery
Desmopressin - stimulates release of VWF
VWF infusion
Factor VII
Heavy periods
Tranexamic acid
Mefanamic acid
Norethisterone
COCP
Mirena
Hysterectomy
Define haemophillia
X linke recessive severe bleeding disorders.
Which factor is affected in each haemophilia A and B
A - Factor VIII
B - Factor IX
History of haemophilia
Bleeding!
Intracranial, haematoma, cord - neonates
Joints and muscles
Management of haemophilia
Replace specific clotting factor
Acute
Infusion
Desmopressin
Antifibrinolytics - tranexamic acid
Define venous thromboembolism
Common condition where clots develop in the circulation and become dislodged and occlude small blood vessels
Risk factors for DVT or embolism
Immobility
Recent surgery
Long haul travel
Pregnancy
Oestrogen! - HRT, contraceptive
Malignancy
Polycythaemia
Systemic lupus erythematosus
Thrombophilia
Examples of thrombophilias
Antiphospholipid syndrome
Factor V Leiden
Antithrombin deficiency
Hyperhomocysteineaemia
Prothrombin gene variant
Activated protein C resistance
DVT presentation
Unilateral painful swollen leg
Calf swelling - >3cm
Dilated superficial veins
Tenderness
Oedema
Redness
What score is used to assess risk of DVT or PE
Wells score
Investigations in PE
CTPA
Management of DVT
Anticoagulation
Define Budd-Chiari syndrome
Blood clot developlable statess in the hepatic vein blocking outflow of blood. Associated with hyper-coagu
Triad in Budd-Chiari syndrome
Abdo pain
Hepatomegaly
Ascites
