Haematology Flashcards by Miranda King

Presentation of hereditatary haemochromatosis (5)

Diabetes 
Bronzed skin 
Arthritis 
Cardiomyopathy 
Liver disease

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Investigation findings in hereditary haemochromatosis

Raised LFTs

Raised ferritin

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Genetics of hereditary haemochromatosis

Autosomal recessive

Chromosome 6

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Pathophysiology of hereditary haemochromatosis

Decreased synthesis of hepcidin
Hepicidin reduces ferropportin channels
Results in excessive iron absorption
Iron deposition in tissues

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Pathophysiology of immune thrombocytopaenic purpura (ITP)

Anti-platelet antibodies

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Presentation types of ITP

Acute - kids

Chronic - adults

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Acute presentation of ITP

Kids
Sudden and self-limiting
Often post-infectious

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Chronic presentation of ITP

Adults
Fluctuating
Low platelet - bleeding, menorrhagia, epistaxis

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Investigation in ITP

Threshold for Management

Platelet count

<20-30 and give prednisolone 1mg/kg to induce remission

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Management of ITP

Prednisolone

1mg/kg

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Causes of anti-phospholipid syndrome

Lupus
Drugs
Viral infection

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Investigation of anti-phospholipid syndrome

False measurement

Anti-cardiolipin antibodies

Cannot trust APTT - falsely prolonged

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Pathophysiology of anti-phospholipid syndrome

Bind to glycolipid on RBC, change profile of RBC

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Presentation of anti-phospholipid (3)

Recurrent foetal losses
Thrombosis
Thrombocytopaenia

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Management of anti-phospholipid

Warfarin

Aspirin

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Pathophysiology of myeloma

Plasma cell proliferation

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Paraprotein in myeloma

IgG or IgA

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Investigation findings in myeloma

Urine electrophoresis
Bence Jones protein
Raised calcium

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Management of myeloma (3)

Dexamethasone
Thalidomide/similar
Alkylating agent

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Paraprotein in Waldenstrom’s Macroglobinuria

IgM paraprotein

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Pathophysiology of Waldenstrom’s

Disorder of intermediate of B and plasma cells

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Presentation of Waldenstrom’s

Marrow failure

Lymphadenopathy

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Management of Waldenstrom’s

None

Chemoplasmaphoresis - reduce amount of paraprotein

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Group who get ALL

Kids

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Presentation of ALL (2)

Marrow failure | Bone pain

Involvement in ALL

CNS and testis

Investigation in ALL

See raised lymphoblasts | Often carry out LP as high risk of CNS involvement

Management in ALL

Chemotherapy | Consider allogenic stem cell transplant

Subtype of AML

t 15:17 | Present with catastrophic DIC

Presentation of AML (3)

Bleeding Easy bruising Anaemia

Group who get AML

>60 years

Pathological findings in AML

Aeur rods | Raised myeloblasts which occupy the bone marrow

Presentation of AML

Gum infiltration | Marrow failure

Management of AML

2-4 cycles of combination treatment

Pathophysiology of TTP

Endothelial damage results in microvascular thrombosis Consumes platelets Results in thrombocytopaenia

Presentation of TTP (4)

Purpura Fever AKI MAHA

MAHA =

= microangiopathic haemolytic anaemia

Investigation findings in TTP

Haemolysis

Management of TTP

Plasma exchange

Pathological findings in myelofibrosis

Poikilocytes on blood film | Fibrosis of bone marrow - occupying bone marrow

Presentation of myelofibrosis

Marrow failure | = extramedullary haematopoiesis

Management of myelofibrosis

Supportive Transfusion Allogenic stem cell transplant

What is myelofibrosis

Type of chronic leukaemia | A myeloproliferative disorder

Genetics of CML | Protein produced

Philadelphia chromosome - t 9:22 | Produces BCR-ABL 1 = abnormal phosphorylation

Difference between AML and CML

AML - abnormal blasts, maturation block | CML - no maturation block

Presentation of CML (3)

B symptoms Anaemia Priapism

Who gets CML

Elderly

Investigation findings in CML (3)

Anaemic Leukocytosis Thrombocytosis

Management of acute presentation of CML

Consider transplant

Management of chronic presentation of CML

Imatinib

Involvement in CLL

Both blood and lymph nodes

Pathology of CLL

Proliferation of B cells

Who gets CLL

Elderly

Associations of CLL

Warm autoimmune haemolytic anaemia

Investigation findings in CLL

Normal/low Hb and platelets | Raised WBC

Management of CLL

Steroids | Chemotherapy

Pathological findings in polycythaemia rubra vera

JAK2 mutation | BCR-ABL1 negative

Presentation of PRV (4)

Itching Worse after hot bath Fatigue Headache

Investigation of PRV (3)

Increased Hb Erythrocytosis Haematocrit raised

Management of PRV

Venesection to lower haematocrit | Hydroxycarbamide

Chelation agents

Desferrioxamine

Who gets Hodgkin's Lymphoma

Two peaks Young adult Older

Staging of Hodgkin's Lymphoma

1 - single node 2 - 2+ nodes same side of diaphragm 3 - 2+ nodes above and below diaphragm 4 - widespread disease

Management of Hodgkin's Lymphoma

Curative with ABVD chemotherapy/combination chemo | Radiation

Management of follicular lymphoma

Rituximab | CD20+

Genetics of follicular lymphoma | Protein lost

t 14: 18 CD20+ Loss of BCL2 gene which is the normal apoptosis gene

Follicular lymphoma epidemiology

2nd commonest in adults

Prognosis of mantle cell lymphoma

Bad

Genetics of mantle cell lymphoma

t 11: 14

Presentation of mantle cell lymphoma

Widespread lymphadenopathy

Non-Hodgkin's Lymphomas (5)

``` Burkitts Follicular Mantle Cell Diffuse large B cell T cell ```

Most common NHL

Diffuse large B cell

Pathology of NHL

Malignant expansion of lymphocytes at different stages of development

Management of NHL

CHOP chemotherapy

Presentation of fanconi's anaemia (4)

Short stature Cafe au lait Anaemia Hypogenitalia

Pathology behind fanconi's anaemia

Cannot correct inter-strand DNA links

Investigation findings in fanconi's anaemia

Thrombocytopaenia | Neutropaenia

Aplastic anaemia marrow findings

Hypocellular marrow

Causes of aplastic anaemia (4)

Parvovirus Autoimmune Chloramphenicol Penicillamine

Pathology of aplastic anaemia

T cells target stem cells and CMP | = cannot produce myeloid cells

Management of aplastic anaemia (2)

Stem cell transplant | Immunosuppression

Pathogenesis of myelodysplastic syndrome

Ineffective haematopoiesis

Investigation findings of myelodysplastic syndrome

Dysplastic hypercellular bone marrow

Complications of myelodysplastic syndrome

AML

Who gets myelodysplastic syndrome

70-80 years

Pre-cursor of AML

Myelodysplastic syndrome

Genetics of sickle cell

Gene 6 of B gene | Change of valine to glutamine

Pathophysiology of sickle cell

Production of HbS | HbS is prone to depolymerise in hypoxia, producing a RBC defect

B-Thalassaemia intermedia genotype (2)

Mildly homozygous | Co-dominant with other trait

Presentation of B-thalassaemia major (2)

Failure to thrive | Severe anaemia

Target cells (2)

Thalassaemia | Iron deficiency anaemia

Management of B-thalassaemia major

Transplant | Transfusions for life - chelation agents to prevent iron overload

Investigation findings in B-thalassaemia major

Target cells | Raised HbF

Causes of MAHA (4)

Mechanical valve HUS TTP Pre-eclampsia

Investigation findings of MAHA

Schistocytes

Why do schistocytes occur?

Intravascular haemolysis with mechanical disruption

Pathophysiology of anaemia of chronic disease

Increased production of ferritin Triggers increased hepcidin production Reduced production of ferroportin Reduced Fe absorption

Pathophysiology of paroxysmal nocturnal haemoglobinuria

Stem cell disorder | Results in excessive complement activation (C5)

Presentation of paroxysmal nocturnal haemoglobinuria (2)

Haemoglobinuria at night | Thrombosis

Investigation findings in paroxysmal nocturnal haemoglobinuria

Urinary haemosiderin +VE

Management of PNH

Anti-coagulation | Treatment of stem cells

Types of Autoimmune Haemolytic anaemia

Warm | Cold

Warm Autoimmune Haemolytic anaemia Ig

IgG

Cold Autoimmune Haemolytic anaemia Ig

IgM

Intravascular autoimmune haemolytic anaemia

Cold AHA

Extravascular autoimmune haemolytic anaemia

Warm AHA

Causes of warm autoimmune haemolytic anaemia

Extravascular SLE Idiopathic

Causes of cold autoimmune haemolytic anaemia | Pathogenesis

Intravascular EBV, mycoplasma = complement mediated

Management of warm autoimmune haemolytic anaemia

Steroids 1mg/kg/day

Investigation findings in AHA

Spherocytes | +VE coombs test

A-genes for Hb

4 genes | Ch 16

B-genes for Hb

2 genes | Ch 11

Vitamin K dependent clotting factors

``` Prothrombin (II) VII IX X Protein C ```

Natural anticoagulants

Protein C | Protein S

Mechanism of unfractionated heparin (main)

Increases | Anti-thrombin inhibition of thrombin

Mechanism of LMWH (main)

Increases | Anti-thrombin inhibition of factor X