Haematology Flashcards
Low haemaglobin + raised MCV - type of anaemia?
macrocytic
causes of Vitmain B12 deficiency?
pernicous anaemia
atrophic gastritis due to H.pylori
gastrectomy
malnutrition
Investigations for pernicous anaemia?
FBC (macrocytic anaemia, low WCC + platelets)
Vit B and folate levels
anti-intrinsic factors antibodies (1st line)
anti gastric parietal cell antibodies
management of pernicous anaemia?
IM vit B12 replacement
folate supplements
investigations for wilsons disease?
- slit lamp examination for Kayser-Fleischer rings
- reduced serum caeruloplasmin
- reduced total serum copper
- free (non-ceruloplasmin-bound) serum copper is increased
- increased 24hr urinary copper excretion
- the diagnosis is confirmed by genetic analysis of the ATP7B gene
first line management of Wilson’s disease?
penicillamine
What is multiple myeloma?
Disease of plasma cells - abnormal clonal proliferation of post-germinal B cells (plasma cells) this leads to secretion of monoclonal antibodies (most commonly of the Ig subtype) and antibody fragments into the serum and the urine.
What are the clinical features of multiple myeloma (CRAB HAI)?
- Hypercalcaemia
- Renal impairement
- anaemia
- bone pathology
- hyperviscosity (headaches, visual distrubance)
- amyloidosis
- infection
What could bloods show if a patient had multiple myeloma?
FBC may show anaemia
U&E may show renal impairment (particularly raised serum creatinine)
Hypercalcaemia
Imaging for multiple myeloma?
Whole body MRI - 1st line
Head XRAY - raindrop skull
diagnostic tests for multiple myeloma?
- Serum and/or urine electrophoresis: this will show a paraprotein spike (typically IgG).
- Serum free light chain essay (Bence Jones protein)
- Tissue diagnosis typically by bone marrow aspirate and biopsy: myeloma is confirmed if there are >10% of plasma cells in the bone marrow.
management of multiple myeloma?
Haematopoietic stem cell transplant
if unable to get stem cell transplant then Melphalan plus Prednisolone plus Thalidomide
Haemophilia A inheritence type?
X-linked recessive
(very rare in woman but look out for features of Turner’s syndrome)
What is haemophilia A?
bleeding disorder caused by deficiency in clotting factor VIII
Diagnostic test for haemophilia A?
factor VIII assay, and severity depends on the factor VIII level (severe disease occurs if factor VIII is <1% of normal).
Management of haemophilia A?
Minor bleeds = Desmopressin
Major bleeds = recombinant factor VIII.
What is haemophilia B?
X-linked recessive inherited bleeding disorder caused by deficiency in clotting factor IX
Diagnostic test for haemophilia B?
Factor IX assay
Management of haemophilia B?
Recombinant factor IX
What’s more likely - haemophilia A or B?
A
Clinical features of Lymphoma?
Painless lymphadenopathy (non-tender, rubbery, asymmetrical)
B symptoms (fever, night sweats, and weight loss)
Splenomegaly and hepatomegaly
Extranodal Disease - gastric (dyspepsia, dysphagia, weight loss, abdominal pain), bone marrow (pancytopenia, bone pain), lungs, skin, central nervous system (nerve palsies)
Alcohol induced pain in lymphadenopathy node = ?
Hodgkins lymphoma
Investigations for lymphoma?
- Excisional node biopsy - diagnostic
- CT chest, abdomen and pelvis (to assess staging)
- HIV test (often performed as this is a risk factor for non-Hodgkin’s lymphoma)
- FBC and blood film (patient may have a normocytic anaemia and can help rule out other haematological malignancy such as leukaemia)
- ESR (useful as a prognostic indicator)
- LDH (a marker of cell turnover, useful as a prognostic indicator)
Staging system for non-Hodgkin’s lymphoma?
Ann Arbor system
Does low grade or high grade Non hodgkin’s lymphoms have a better prognosis + cure rate?
low grade - better prognosis
high grade - worse prognosis but better cure rate
Management of non hodgkins lymphoma?
- watchful waiting, chemotherapy or radiotherapy.
- flu/pneumococcal vaccines
- Patients with neutropenia may require antibiotic prophylaxis
management of sickle cell crisis?
Oxygen, analgesia (opiates) and IV fluids
Acute lymphoblastic leukaemia presentation?
Anaemia - pallor and fatigue
neutropenia - frequent + severe infections
thrombocytopenia - easy bruising, petechiae
bone pain
hepatomegaly
splenomegaly
fever
testicular swelling
Investigations for leukaemia?
FBC - within 48 hours of suspicion
blood film
bone marrow biopsy - diagnostic
Philadelphia chromosome (t(9:22) translocation is associated with?
chronic myeloid leukaemia - most common
Acute lymphoblastic leukaemia
‘Blast cells’ on blood film = ?
Acute lymphoblastic leukaemia
or
chronic myeloid leukaemia
or
acute myeloid leukaemia
‘smear’ or ‘smudge’ cells on blood film =?
chronic lymphocytic leukaemia
‘Auer rods’ + blast cells on blood film = ?
Acute myeloid leukaemia
Management of leukaemia?
Chemotherapy + steroids
What is tumour lysis syndrome?
Tumour lysis syndrome is caused by the release of uric acid from cells that are being destroyed by chemotherapy. The uric acid can form crystals in the interstitial tissue and tubules of the kidneys and causes acute kidney injury.
Management of tumour lysis syndrome?
Allopurinol or rasburicase are used to reduce the high uric acid levels.
Lymph node biopsy showing reed-sternberg cells = ?
Hodgkins lymphoma
Management of hodgkins lymphoma?
Chemotherapy and radiotherapy
What is Von Willebrand’s disease?
most common inherited bleeding disorder.
Inherited in an autosomal dominant fashion
characteristically behaves like a platelet disorder i.e. epistaxis and menorrhagia
Types of Von Willebrand’s disease?
type 1: partial reduction in vWF (80% of patients)
type 2*: abnormal form of vWF
type 3**: total lack of vWF (autosomal recessive)
Investigations for Von Willebrand’s disease?
- prolonged bleeding time
- APTT may be prolonged
- factor VIII levels may be moderately reduced
- defective platelet aggregation with ristocetin
Manegement of Von Willebrand’s disease?
- tranexamic acid for mild bleeding
- desmopressin (DDAVP): raises levels of vWF by inducing release of vWF from Weibel-Palade bodies in endothelial cells
- factor VIII concentrate
Inheritance type of thalassaemia?
autosomal recessive
Investigations for thalassaemia?
Full blood count- microcytic anaemia.
Haemoglobin electrophoresis - globin abnormalities.
DNA testing
Management of alpha-thalassaemia?
- Monitoring the full blood count
- Monitoring for complications
- Blood transfusions
- Splenectomy may be performed
- Bone marrow transplant - curative
What is beta-thalassaemia minor + how does it present?
carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.
Mild microcytic anaemia
HbA2 raised (> 3.5%)
What is beta-thalassaemia intermedia + how does it present?
two abnormal copies of the beta-globin gene. This can be either two defective genes or one defective gene and one deletion gene.
more significant microcytic anaemia
What is beta-thalassaemia major + how does it present?
Homozygous for the deletion genes. no functioning beta-globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.
Severe microcytic anaemia
Splenomegaly
Bone deformities
HbA2 & HbF raised
HbA absent
Management of beta-thalassaemia major?
regular transfusions, iron chelation e.g. desferrioxamine and splenectomy. Bone marrow transplant - curative.
disseminated intravascular coagulation bloods picture?
↓ platelets
↓ fibrinogen
↑ PT & APTT
↑ fibrinogen degradation products
what would you see on blood film in hyposplenism (e.g. post-splenectomy, coeliac disease)?
- target cells
- Howell-Jolly bodies
- Pappenheimer bodies
- siderotic granules
- acanthocytes
what would you see on blood film in iron deficiency anaemia?
target cells
‘pencil’ poikilocytes
(if combined with B12/folate deficiency a ‘dimorphic’ film occurs with mixed microcytic and macrocytic cells)
what would you see on blood film in myelofibrosis?
‘tear-drop’ poikilocytes
what would you see on blood film in intravascular haemolysis?
schistocytes
what would you see on blood film in megoblastic anaemia?
hypersegmented neutrophils
haemochromatosis inheritence type?
autosomal recessive
investigations for haemochromatosis?
transferrin saturation - >55% in men or >50% in woman
raised ferritin + iron
low TIBC (total iron binding capacity)
family testing - test for HFE mutation
Management of haemochromatosis?
venesection - 1st line
desferrioxamine - 2nd line
DIC - what would be seen on investigations?
thrombocytopenia
prolonged PT and aPTT
low plasma fibrogen
elevated plasma d-dimer
Thrombotic thrombocytopenic purpura management?
plasma exchange
When would you consider a platelet transfusion?
for patients with a platelet count < 30 and clinically significant bleeding (malaena, haematemesis)
OR
platelet count <100 with severe bleeding (bleeding at critical sites such as CNS)
OR
<10 if no bleeding or contrindications
What can CLL transform to?
Non-Hodgkins lymphoma
