Haem End of block Formative review Flashcards
A 68 year old woman with fatigue has a blood count performed and the results are as follows: Haemoglobin 87g/L, MCV 110 fl, white cell count 2.4 x 109/l, neutrophil count 1 x 109/l and platelet count 100 x 109/l. The blood film shows macroovalocytes and hypersegmented neutrophils.
What is the most likely diagnosis?
Pernicious Anaemia
- This is a primary cause of B12 deficiency which has led to the Macrocytic Anaemia.
What is Pernicious anaemia?
An autoimmune condition involving antibodies against the parietal cells or intrinsic factor.
What Clinical features can Pernicious anaemia cause?
- Peripheral neuropathy, pins and Needles.
- Loss of Vibration sense
- Loss of Proprioception
- Visual changes
- Mood and cognitive changes.
What autoantibodies can be tested for in Pernicious Anaemia?
- Intrinsic factor antibodies (the first-line investigation)
- Gastric parietal cell antibodies (less helpful)
What is the management of Pernicious Anaemia?
Intramuscular hydroxocobalamin is initially given to all patients with B12 deficiency.
How often is Intramuscular Hydroxocobalamin given to patients with Pernicious anaemia if they have Neurological signs?
Alternate days until they have no more symptoms.
If no signs then 3 times weekly for 2 weeks.
What is the maintenance therapy in a patient with Pernicious anaemia?
Pernicious anaemia – 2-3 monthly injections for life (Intramuscular hydroxocobalamin)
Dietary cause of B12 deficiency - oral cyanocobalamin or twice-yearly injections
What is Falconi Anaemia?
A genetic disorder that affects the bone marrow, resulting in decreased production of all types of blood cells.
What is Lymphocytosis?
An Increased Number of White cells in the blood.
What is a potential complication of Chemotherapy which would present with Pancytopenia?
Drug-induced marrow failure (as part of the chemotherapy)
How would Drug induced marrow failure be managed?
Red cell transfusion
What is Polycythaemia vera?
A chronic blood disorder characterized by the overproduction of red blood cells in the bone marrow
What should a High Haemoglobin in a patient without a history make us think of?
Polycythaemia
How is Polycythaemia Investigated?
By Analysis of the JAK2 Gene.
What is the management of Polycythaemia Vera?
- Vensect to haematocrit <0.45
- Aspirin
- Cytotoxic oral chemotherapy e.g. hydroxycarbamide
How are Acute leukaemias investigated?
Immunophenotyping helps clarify the lineage involved (i.e. Myeloid or Lymphoid)
A 92 year old woman who is breathless after receiving a 4 unit red cell transfusion for chronic anaemia,
What is the likely cause of her breathlessness?
Transfusion associated circulatory overload (TACO)
What is TACO?
TACO can occur when patients with chronic anaemia and a compensatory high cardiac output are given a large volume load. The result is often pulmonary oedema.
A 48 year old man becoming breathlessness two hours after an infusion of fresh frozen plasma.
What is the likely cause of his breathlessness?
Transfusion related acute lung injury (TRALI)
What is TRALI?
TRALI is caused by anti- leucocyte antibodies present in the donation that bind to the patients white cells and cause acute lung injury by degranulation of the affected neutrophils in the lungs. Pulmonary infiltrates are seen on CXR.
What are the different types of transfusion reactions?
- Transfusion related acute lung injury
- ABO incompatible transfusion
- Transfusion related graft versus host disease
- Febrile non-haemolytic transfusion reaction
- Transfusion associated circulatory overload
- Delayed transfusion reaction
When is a transfusion reaction “delayed”?
Delayed transfusion reactions occur more than 24 hours after a blood transfusion, sometimes days to weeks later
How is Non-Hodgkins Lymphoma treated?
Rituximab (A monoclonal Antibody)
What does Rituximab target?
CD20 - Found on the surface of B lymphocytes.
What does Imatinib target in the treatment of CML?
BCR-ABL1 tyrosine kinase.
What does Aspirin target?
Cox-1 / Cyclooxygenase (like other NSAIDs)
- It Inhibits it Irreversibly
What is Cyclooxygenase required for?
The production of prostaglandins and thromboxanes for platelet aggregation.
Which Anticoagulant drug acts as an ADP antagonist?
Clopidogrel
Which Anticoagulant drugs irreversibly inactivated cyclooxygenase 1?
Aspirin
Which Anticoagulant drug is a highly selective direct inhibitor or activated factor X?
DOACs - Rivaroxiban, Apixaban etc..
What is Monocytosis?
Elevated levels of Monocytes in the blood stream.
What does a Monocytes nucleus look like?
A horse-shoe shape.
Has a steel-grey cytoplasm with vacuoles as well.
Where is Vitamin K absorbed?
In the upper intestine
What Molecule is responsible for bile salt absorption?
Vitamin K
What Molecule carboxylates specific preformed clotting factors?
Vitamin K
What is an Acquired cause of Thrombophilia?
Anti-phospholipid syndrome
What are some causes of Hereditary Thrombopilia?
- Factor V leiden
- Antithrombin Deficiency
- Protein C Deficiency
- Protein S Deficiency
Which disease causes an uncontrolled production of essentially normally functioning blood cells?
Polycythaemia Rubra Vera
Which disease causes an uncontrolled production of immature blood cells in the bone marrow?
Acute Myeloid Leukaemia (A block on early differentiation so an excess of primitive cells accumulate rapidly)
What disease causes a Clonal B cell disorder usually resulting in large numbers of circulating malignant cells?
Chronic Lymphocytic Leukaemia. (a Failure of cell death)
What type of Mutation causes Sickle cell disease?
Point mutation in the globin gene
What mechanism causes Myelodysplasia?
Acquired DNA mutations in Haematopoietic stem cells
What mechanism causes Hereditary Spherocytosis?
A congenital Mutation in structural red cell proteins.
What disease can progress to AML?
Myelodysplasia
