Haematology Flashcards
What chromosome is associated with CML?
Philadelphia chromosome
How does CML present?
Presents between 60-70 with:
Anaemia
Weight loss and sweating
Splenomegaly
An increase in granulocytes at different stages of maturation +/- thrombocytosis
May undergo blast transformation
In a non-urgent scenario, how long should a unit of RBCs be transfused over?
90-120 mins
what is the typical history of hereditary spherocytosis?
neonatal jaundice
chronic symptoms although haemolytic crises may be precipitated by infection
Gallstones
Splenomegaly is common
What is the diagnostic test for hereditary spheorcytosis?
EMA binding test
what is von willebrand disease?
most common inherited bleeding disorder
majority of cases are inherited in an autosomal dominant fashion
what is seen on investigation in people with von willebrand disease?
prolonged bleeding time
APTT may be prolonged
factor VIII levels may be moderately reduced
defective platelet aggregation with ristocetin
what is the median age of presentation of multiple myeloma?
70
What are the features of multiple myeloma?
CRABBI
C = calcium = hypercalcaemia = constipation, confusion, anorexia, nausea
R = renal = renal damage presents as dehydration and increased thirst
A = anaemia = bone marrow crowding suppresses erythropoiesis leading to anaemia = this causes fatigue and pallor
B = bleeding = bone marrow crowding also results in thrombocytopenia which puts patients at increased risk of bleeding and bruising
B = bones = bone marrow infiltration by plasma cells and cytokine-mediated osteoclast overactivity creates lytic bone lesions - may present as pain and increases the risk of pathological fractures
I = infection = reduction in production of normal immunoglobulins results in increased susceptibility to infection
What does cryoprecipitate contain?
factor VIII, fibrinogen, von Willebrand factor, factor XIII
What is haemochromatosis?
autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation
how does Paget’s disease present?
stereotypical presentation is an older male with bone pain and an isolated raised ALP
bone pain e.g. pelvis, lumbar spine, femur
classical, untreated features: bowing of tibia, bossing of skull
What happens in DIC?
the process of coagulation and fibrinolysis are dysregulated, leading to widespread clotting with resultant bleeding
What is the typical blood picture in DIC?
low platelets
low fibrinogen
increased PT and APTT
Increased fibrinogen degradation products
schistocytes due to microangiopathic haemolytic anaemia
What is haemolytic uraemic syndrome?
Generally seen in young children and produces a triad of:
- acute kidney injury
- microangiopathic haemolytic anaemia
- thrombocytopenia
what are the causes of haemolytic uraemic syndrome?
most cases are secondary:
- classically shigella toxin producing E coli 0157:H7 -> Most common case in children, accounting for over 90% of cases
- pneumococcal infection
- HIV
- rare: SLE, drugs, cancer
what is the treatment of HUS?
- supportive e.g. fluids, blood transfusion and dialysis is required
- no role for abx
What can CLL transform into and what is this transformation called?
Richter’s transformation:
- CLL transformation into high grade lymphoma -> non-hodgkins lymphoma
What are the symptoms of Richter’s transformation?
occurs when leukaemia cells enter the lymph node and change into a high-grade, fast-growing, non-Hodgkin’s lymphoma
Patients often become unwell very suddenly
It is indicated by one of the following symptoms:
- Lymph node swelling
- fever without infection
- weight loss
- night sweats
- nausea
- abdominal pain
What is superficial thrombophlebitis?
Inflammation associated with thrombosis of one of the superficial veins, usually the long saphenous vein of the leg
Usually non-infective in nature but secondary bacterial infection may rarely occur resulting in septic thrombophlebitis
around 20% with superficial thrombophlebitis will have underlying DVT at presentation and 3-4% will progress to DVT if untreated
How is superficial thrombophlebitis managed?
traditionally NSAIDs have been used
Topical heparinoids have also been used
Compression stocking are also used but ABPI should be measured before
What may be seen on blood film in people with coeliac disease?
hyposplenism is a complication of coeliac disease therefore blood film may show:
target cells
Howell-Jolly bodies
pappenheimer bodies
siderotic granules
acanthocytes
what is hereditary spherocytosis?
most common haemolytic anaemia in people of northern European descent
autosomal dominant defect of red blood cell cytoskeleton
normal biconcave disc shape is replaced by a sphere-shaped RBC
red blood cell survival is reduced as they are destroyed by the spleen as a result
What is heparin-induced thrombocytopenia and how does it present?
- immune-mediated: antibodies form against complexes of platelet factor 4 and heparin
- usually does not develop until after 5-10 days of treatment
- features include a greater than 50% reduction in platelets, thrombosis and skin allergy
- you need to address the need for ongoing anticoagulation as heparin would need to be withheld and replaced with: direct thrombin inhibitor e.g. argatroban, danaparoid
what is the pattern of clotting tests in people with Von Willebrand disease?
normal platelets
prolonged bleeding time
prolonged APTT
normal PT and TT
what is the management of giant cell arteritis?
should be immediately treated with high dose steroids - 60mg OD prednisolone to prevent blindness and stroke
What is seen on blood film in G6PD?
heinz bodies and bite cells, diagnostic test is a G6PD enzyme assay
What marker is measured in suspected haemochromatosis?
transferrin saturation
