Haematology Flashcards

1
Q

How are haemophilia A and B inherited?

A

Sex linked recessive

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2
Q

What are the hallmarks of haemophilia?

A

Haemorrhage into joints
Bleeding with tooth extraction
Skin bruising

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3
Q

What are the blood laboratory findings in haemophilia?

A

Normal prothrombin time
Normal bleeding time
Normal fibrinogen level
Prolongation of the partial thromboplastin time

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4
Q

What factors are deficient in haemophilia A and B?

A

Haemophilia A - Factor VIII

Haemophilia B - factor IX - Christmas disease

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5
Q

What is multiple myeloma?

A

Bone marrow cancer affecting plasma cells, collections of abnormal plasma cells accumulate and interfere with production of other blood cells
Increased amounts of amyloid light chain can get deposited in multiple organs including the carpal tunnel
CRAB: elevated calcium, renal failure, anaemia, bone lesions

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6
Q

What are symptoms of anaemia?

A
Tiredness 
Fatigue 
Shortness of breath on exertion
Angina 
Syncope or pre-syncope 
Failure to thrive in children
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7
Q

What are signs of anaemia?

A
Conjunctival pallor 
Tachycardia 
Postural hypotension 
Oedema/Heart failure 
Koilonychia
Leuconychia
Glossitis
Angular chelitis
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8
Q

What are the main causes for anaemia?

A

Increased usage: Bleeding, Haemolysis
Decreased production: Iron/B12/folate deficiency, Renal failure (EPO), Haematological malignancies, Bone marrow failure syndromes
Anaemia of Chronic Disease: decreased iron utilisation

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9
Q

What questions are important in a history for a presentation of anaemia?

A

Diet: veganism, phytates, alcohol
Bowels: Malabsorption, changing habit, blood, pain
Menses and multiparity: menorrhagia
Family history: bowel Ca, ethnicity (sickle/thal)
Drugs: Antiplatelets/anticoagulants, PPI
Past medical history: Renal disease, chronic diseases
Systematic review: Features of malignancy (weight loss), Inflammatory disease processes (fevers, joint pains, rashes), Haemolytic features (dark urine, jaundice)

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10
Q

What clinical signs would you look for on examination of a patient presenting with anaemia?

A

Signs of malignancy: Cachexia, lymphadenopathy, masses
Signs of inflammatory diseases: Fevers, joint swelling, rashes
Signs of chronic infection: Such as ulcers, bronchiectasis, deep infections
Signs of heart failure: oedema, SOB, PND, arrhythmia, reduced exercise tolerance, pink sputum
Signs of liver disease: caput medusa, spider naevi, ascites, jaundice
Haemtological features: Hepatosplenomegaly

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11
Q

What are some causes of iron deficiency?

A

Blood loss: Menstrual, Multiparity, GI
Poor diet
Malabsorption: Diarrhoea, Gastrointestinal symptoms

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12
Q

What investigations would you do for iron deficiency anaemia?

A
FBC, MCV, MCH: microcytic, hypochromic 
Ferritin 
Serum Iron 
Transferrin Saturations 
Coeliac serology (anti-TTG antibodies and IgA)
Upper and Lower GI endoscopy
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13
Q

In which patients might you find folic acid deficiency anaemia?

A

Hospital inpatients
Haemolytic states
Malabsorption, especially if combined deficiencies

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14
Q

What is b12 deficiency associated with?

A

Peripheral neuropathy and subacute combined degeneration of spinal cord

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15
Q

How is b12 absorbed? What clinical relevance does this have?

A

Bound to intrinsic factor in the terminal ileum
Malabsorptive states lead to deficiency
Intrinsic factor from stomach so gastrectomy can affect this

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16
Q

What investigations would you do to check a patient who has suspected b12 or folate deficiency?

A

Check serum B12 and serum folate
Coeliac screening
Intrinsic factor antibodies

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17
Q

What are causes of microcytic anaemia?

A

Iron deficiency
Late Anaemia of Chronic Disease
Haemoglobinopathies

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18
Q

What are causes of normocytic anaemia?

A

Bleeding
Haemolysis
ACD
Drugs

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19
Q

What are causes of a macrocytic anaemia?

A
B12/folate deficiency 
Hypothyroidism 
Paraprotein (multiple myeloma)
Alcohol 
Drugs 
Haemolysis
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20
Q

What additional tests might need to be performed to determine a cause for a patients anaemia?

A

Reticulocyte count: if raised, haemolysis or haemorrhage
Blood film: can be diagnostic of specific causes
Haemolysis screen: lactate dehydrogenase, haptoglobin, bilirubin and Direct antiglobulin test (autoimmune screen)
Renal function: eGFR is proportional to EPO
CRP/ESR: useful for chronic disease
LFTs: includes bilirubin
TSH
Myeloma screen: Ca, Igs, protein electrophoresis, serum free light chains, Bone marrow biopsy

21
Q

How might haemochromatosis present?

A
Cirrhosis
Bronze skin 
Diabetes
Fatigue 
Malaise 
Joint and bone pain
Erectile dysfunction 
CHF
Arrhythmia
22
Q

What is haemophilia A? What is its heritability?

A

X linked recessive disorder resulting in lack of factor VIII
A man can only get the faulty X chromosome from his mother
Female can only get it if both parents carry a faulty X chromosome

23
Q

A 59 year old woman is brought to a&e by her concerned son who thinks she is having a heart attack. She mentions no pain but rather that her heart is skipping. On examination she has an irregularly irregular pulse. She has a history of dvt so is referred to the anticoagulation clinic where she is commenced on warfarin. What range of inr is deemed therapeutic in this individual?

24
Q

A 68 year old man presents to his gp with his wife complaining of increasing lower back pain. He gets constipated but has noticed no bleeding or weight loss. He experiences bouts of confusion. Investigations show elevated calcium, normocytic anaemia and raised creatinine. Paraproteins are detected in the urine. What is the most likely diagnosis?

A

Multiple myeloma

25
What are major features of multiple myeloma?
``` CRAB2 Calcium raised Renal impairment Amyloidosis Bone lesions Bence Jones protein ```
26
A 19 year old student presents with a supraclavicular lump. On examination it is rubbery and non tender. On further questioning she has been feeling lethargic, having night sweats and has lost weight. A biopsy is done which shows characteristic cells with mirror image nuclei. What is the most likely diagnosis?
Hodgkin's lymphoma Mirror image nuclei = reed sternberg cells Incidence high in young adults and elderly
27
A 9 year old boy is brought by his worried parents to the ED as he developed a number of bruises last night. On questioning the parents state that he presented 5 days ago with fever, abdo pain and vomiting for which the GP diagnosed gastroenteritis. Since then he has become increasingly unwell. He has no medical history and there are no social concerns. On examination there are bruises of varying sizes and petechiae over his trunk. He looks pale and his consciousness seems depressed. Investigation reveals increased unconjugated plasma bilirubin, low haptoglobin, renal impairment and thrombocytopenia. What is the likely diagnosis?
Haemolytic uraemic syndrome Initial gastroenteritis and subsequent haemolysis Can resolve of own accord but may need plasmapheresis in severe cases
28
Give examples of antioxidants
Prevent radical formation: transferrin and lactoferrin | Remove/inactivate ROS: SOD, vit C and E, glutathione
29
What can the uncontrolled production reactive oxygen species in inflammation cause?
``` Lipid and protein peroxidation Damage to cell membranes Increased capillary permeability Impaired mitochrondrial respiration DNA strand breaks Apoptosis ```
30
What is a bence Jones protein?
Immunoglobulin light chain found in urine | Suggestive of multiple myeloma
31
Where are iron, folate and b12 absorbed?
Iron - duodenum Folate - jejunum B12 - terminal ileum
32
What are general causes of thrombocytopenia?
Impaired production: myelodysplastic syndromes, myeloma, tumour infiltration, aplastic anaemia, HIV Excessive destruction/increased consumption: ITP, DIC, TTP Sequestration: splenomegaly, hypersplenism Dilutional: massive transfusion
33
What are some acquired causes of platelet dysfunction?
``` Myeloproliferative disorders Renal disease Liver disease Paraproteinaemias Drug induced: NSAIDs ```
34
Why does renal disease lead to platelet dysfunction?
Platelet function impaired by urea and other metabolites which accumulate in renal disease
35
What are potential complications of haemophilia A?
Develop antibodies to factor VIII Deep internal bleeding Joint damage Infection secondary to transfusion
36
How can liver disease lead to bleeding tendency?
Vit K deficiency: cholestasis Reduced synthesis of coag factors Thrombocytopenia: hypersplenism secondary to portal hypertension or folic acid deficiency Functional abnormalities of platelets and fibrinogen DIC in acute liver failure
37
Give some causes of DIC
``` Malignant disease Septicaemia - gram neg Haemolytic transfusion reaction Obstetric: placental abruption, amniotic fluid embolism, pre eclampsia Trauma Burns Surgery Infections: falciparum malaria Liver disease Snake bite ```
38
What are some risk factors for hypercoagulable states?
``` Hx of unprovoked VTE Increasing age Pregnancy/post partum Malignancy Acute inflammatory state Antiphospholipid antibodies Myeloproliferative disorders Nephrotic syndrome Behçet's disease DIC Paroxysmal nocturnal haemoglobinuria Heparin induced thrombocytopenia COCP, HRT, SERM Chemotherapy Surgery Antithrombin deficiency Protein c/s deficiency Plasminogen deficiency Obesity Smoking HIV Long haul flight Factor V Leiden mutation ```
39
What investigations would you do in a patient with suspected thrombophilia?
FBC Peripheral blood smear: red cell fragmentation, spherocytes, thrombocytopenia, sickle shaped cells APTT: reduced or prolonged Fibrinogen: elevated if prothrombotic, reduced if DIC PT: prolonged D dimer Serum albumin: low in nephrotic syndrome Serum creatinine: high in nephrotic syndrome Serum triglycerides: high in nephrotic syndrome
40
What patient related factors are checked for on a VTE risk assessment form?
``` Active cancer or treatment Age over 60 Dehydration Known thrombophilia Obesity BMI over 30 One or more significant medical comorbidities Personal Hx first degree relative with VTE Hx Use of HRT Used of COCP Varicose veins with phlebitis Pregnancy or ```
41
What admission related factors are checked for on a VTE risk assessment form?
Significantly reduced mobility for 3 days or more Hip or knee replacement Hip fracture Total anaesthetic and surgery time over 90 mins Surgery involving pelvis or lower limb with total time over 60 mins Acute surgical admission with inflam or intra abdo condition Critical care admission Surgery with significant reduction in mobility
42
In whom might you consider doing a thrombophilia screen?
Patients presenting with first VTE age under 50 Unprovoked or recurrent VTE Thrombosis in unusual site Neonatal purpura fulminans Warfarin induced skin necrosis Family Hx in first degree relative at young age
43
What is included in a thrombophilia screen?
``` Protein c level Free protein s level Activated protein c resistance Antithrombin level Prothrombin gene mutation ```
44
What are management options for thrombophilia?
Low molecular weight heparin, unfractioned heparin or fondaparinux Mechanical thromboprophylaxis: graduated compression stockings, intermittent pneumatic compression device
45
What are Howell Jolly bodies?
Blue black inclusions of red blood cells which represent nuclear fragments commonly seen in asplenic patients
46
What are schistocytes?
Fragmented red blood cells seen in intravascular haemolysis
47
What can cause a microcytic anaemia?
Iron deficiency Thalassaemia Anaemia of chronic disease Sideroblastic anaemia
48
What can cause a normoblastic macrocytic anaemia?
``` Alcohol Haemolysis Haemorrhage Liver disease Hypothyroidism Azathioprine ```
49
What can cause a normocytic anaemia?
``` Acute blood loss Anaemia of chronic disease CKD Autoimmune rheumatic disease Marrow infiltration/fibrosis Endocrine disease Aplastic anaemia ```