Haematology Flashcards
(128 cards)
1
Q
Moderately and severely affected individuals with Hereditary Spherocytosis is ideally managed with?
When should it be done?
A
Splenectomy
Performed after the age of 6 years with appropriate counselling about the infection risk
2
Q
Important contraindication to splenectomy that should be ruled out?
A
Stomatocytosis
When RBC has mouth-like or slit-like appearance on a blood smear, with a wide, slit-shaped area of central pallor
3
Q
What is the enzyme deficient in Acute Intermittent Porphyria? And what is the inheritance pattern?
A
Porphobilinogen deaminase, third enzyme involved in the haem biosynthetic pathway
Autosomal dominant
4
Q
What are the main clinical features of AIP?
A
Gastrointestinal disturbances and Neuropsychiatric disorders
5
Q
Characteristic laboratory finding in AIP?
A
Deep red urine on standing, from reddish colour of porphyrins and brownish colour of porphobilin
6
Q
Endocrine effect in AIP?
A
SIADH causing hyponatraemia
7
Q
Important complication of AIP that must be screened by age 40?
A
Hepatocellular carcinoma
- liver imaging and urinary PBG for screening
URINARY in screening
SERUM in acute attacks
8
Q
Definitive diagnosis of ALL
A
> 20% lymphoblasts in the bone marrow during bone marrow examination
9
Q
Genetic predisposition that denotes poor prognosis in ALL?
FBC finding that denote poor prognosis in ALL?
A
Philadelphia positive t9;22 and BCR-ABL
WCC >30 in B-ALL
WCC> 100 in T-ALL
10
Q
Most common coagulation screen abnormality in AML?
A
DIC
11
Q
Prognosis in AML based on genetic mutations?
A
Poor: del 15, del 7, FLT3 mutation
Good: t(15,17), inv 16, t(8,21), NPM1
12
Q
Indicative finding in PBS for APML
A
Presence of Auer rods
13
Q
Iron studies profile of Iron Deficiency Anaemia
A
MCV: low <80
Serum iron: low
Transferrin saturation: low
Transferrin: high
Ferritin: low
TIBC: high
14
Q
Iron studies profile of Thalassaemia
A
MCV: low <80
Ferritin: N
Hb electrophoresis: abnormal
Genetic testing: HBB, HBA1, HBA2
15
Q
Further investigations done for microcytic, normocytic, and macrocytic anaemia?
A
Microcytic anaemia: do iron studies
Normocytic anaemia: check reticulocytes
Macrocytic anaemia: do PBS and LF megaloblasts, check homocysteine and/or MMA levels
- increased in megaloblastic anaemia, normal in non-megaloblastic
16
Q
Most common congenital cause of Aplastic anaemia?
A
Fanconi anaemia
17
Q
What is the triad of Dyskeratosis congenita
A
Abnormalities in nails
Reticulated skin rash
Leukoplakia
18
Q
Basic mechanism of all aplastic anaemias
A
Deficiency of hematopoietic CD34+ stem cells
19
Q
Definitive diagnostic test for aplastic anaemia
A
Bone marrow biopsy showing hypocellular marrow with no abnormal cell population
<25% marrow cellularity
20
Q
What is the diagnostic criteria used to assess severity of Aplastic Anaemia?
A
Modified Camitta Criteria
21
Q
Presence of these signs would exclude diagnosis of aplastic anaemia
A
Hepatosplenomegaly and lymphadenopathy
22
Q
Symptoms of Evans syndrome
A
AIHA + ITP
23
Q
Investigation required for diagnosis of CLL
A
Immunophenotyping via Flow cytometry showing positive CD5, CD19, CD20, CD23 cells
NO NEED for routine BM
24
Q
Investigation required for diagnosis of CML
A
Cytogenetics, FISH: (+) t(9,22)
RT-PCR: BCR-ABL fusion gene
25
Initial vs confirmatory investigation for Coeliac disease
Initial: TTG-IgA antibody levels
Confirmatory: Gastroscopy with duodenal biopsy showing intraepithelial lymphocytes, villous atrophy, crypt hyperplasia
26
Triad of hereditary spherocytosis
Anaemia
Jaundice
Splenomegalynv
27
Investigation of choice in hereditary spherocytosis
Osmotic fragility test
28
Investigation to confirm Hodgkin Lymphoma
Lymph node biopsy showing Reed-Sternberg cells and Hodgkin's cells
29
Mainstay treatment for Hodgkin Lymphoma
ABVD: doxorubicin, bleomycin, vinblastine, dacarbazine
30
Fatal dose of Methaemoglobinaemia
MetHb >70% results to death
31
Gold standard Ix for Methaemoglobinaemia
MetHb levels
32
Definitive test for MGUS
Serum electrophoresis with immunofixation: monoclonal M protein <30 g/L
33
What is abnormally raised ICP?
Normal: 10 mmHg
Raised ICP >20 mmHg
34
What are the signs of temporal uncal herniation?
CN III compression and pupil dilatation
35
What are the signs of Cushing's response?
RR decreases
HR decreases
Systolic BP increases
Pulse pressure increases
36
Head CT criteria for adults
Head CT within 1h
1. GCS < 13 on initial assessment in Emergency Department (ED)
2. GCS < 15 at 2 hours after initial assessment in ED
suspected open or depressed skull fracture
3. any sign of basal skull fracture
4. focal neurological deficit
5. post-traumatic seizure
6. > 1 episode of vomiting.
37
Head CT criteria for children
Done within 1 hour if more than one of these risk factors are present:
1. loss of consciousness lasting > 5 minutes
2. abnormal drowsiness
3. three or more episodes of vomiting
4. dangerous mechanism of injury (high-speed road traffic accident, fall from a height of >3 metres, other high-speed injuries)
5. amnesia (antegrade or retrograde) for > 5 minutes
6. children < 1 year with bruising, swelling, lacerations > 5 cm on the head.
38
Diagnostic test for thalassaemia
Hb electrophoresis: HbA2 greater than 3.5%
39
Curative treatment for thalassaemia
Bone marrow transplant
40
Metabolic disturbances responsible for tumour lysis syndrome (5)
Hyperuricaemia
Hyperkalaemia
Hyperphosphataemia
Hypocalcaemia
Elevated urea and creatinine
41
Diagnostic test for vWD
vWF antigen (quantitative measurement of protein level – diagnostic if < 0.3 IU)
42
Target INR range in those on warfarin treatment
VTE Tx: INR 2-3
Mechanical valves: INR 3-4
43
What is the diagnosis of a patient is from South East Asia and has FBC findings of microcytic hypochromic anaemia but normal haemoglobin electrophoresis?
Alpha thalassaemia will have normal electrophoresis vs Beta thalassaemia which will have increased HbA2
44
What is the diagnosis of a patient with IgM paraproteinaemia with headache and dizziness?
Waldenstrom macroglobulinaemia
MGUS will also have IgM paraproteinaemia but with no symptoms
45
What is the blood type of a anti-Rh negative patient?
Rh positive
46
What is the diagnosis of a patient with low O2 sats but elevated PaCO2 and complaining of headache cyanosis and SOB?
What would be a characteristic laboratory finding and subsequent treatment?
Methaemoglobinaemia
Chocolate brown blood
Managed with methylene blue
47
What is the diagnosis in a patient with fever, seizures, haemolytic anaemia, renal abnormalities, and thrombocytopaenia?
TTP
48
Haematologic complication in pre-eclampsia?
DIC
49
Clinical distinction between haemolytic transfusion reaction vs anaphylaxis
BOTH will cause tachycardia, hypotension, respiratory distress
Haemolytic reaction (+) fever
Anaphylaxis (-) fever
50
How to manage acute multiple myeloma?
Depending first on age or presence of co-morbidities
> Young or no comorbids: Thalidomide-containing treatment with Bortezomib THEN autologous stem cell transplant (vs allogeneic in <40 y/o)
> Older: Thalidomide > Bortezomib NO stem cell transplant
IF with renal disease: ADD bortezomib + steroids
51
How to manage relapsed multiple myeloma?
1. Bortezomib
2. Second autologous stem cell transplant IF fit and >12-18 months since last transplant
3. Lenalidomide + steroids
4. Pomalidomide
5. Panobinostat
6. Clinical trials - Daratumumab
52
What is the definitive treatment of Tumour Lysis Syndrome?
How to prevent TLS?
Rasburicase >> with concurrent IV isotonic fluids
IVF + Allopurinol prior to chemotherapy
53
Causes of acquired haemophilia
Autoimmune diseases
Cancers: pancreatin, colon, breast, malignant melanoma
54
What is the only factor unique to PT? aPTT?
CF VII
CF II V X will prolong both PT and aPTT
CF XII XI IX VIII prolong only aPTT
55
What is the use of 50:50 mix test in coagulation?
If cause is clotting factor deficiency, it will correct but if the cause is inhibitors (lupus anticoagulant) or acquired causes they will not correct
56
What is leukaemic hiatus?
Presence of myelocyte > metamyelocyte in CML
AKA myelocyte bulge
57
How is myelodysplasia managed?
Based on %blasts (low vs high risk)
<5% blast - low risk:
1. Regular monitoring at haematology clinic + correction of cytopenia (EPO, GCF)
2. Lenalidomide as alternative
>5% blast - high risk:
1. Allogeneic stem cell transplant
(-) comorbids + <60 y/o: aggressive chemotx with FLAG (Fludarabine + Cytarabine + GCSF)
(+) comorbids + older: gentler approach
2. Azacitidine as alternative
58
When to screen for Factor V Leiden deficiency?
First degree relatives only
If positive then for non-hormonal contraception
59
How to manage painful sickle cell crisis as per NICE?
Recommends strong opiate in appropriate route (usually IV) in severe pain
60
What are the differential diagnoses in a patient that presents with joint laxity, blurred vision, and chest pain?
Marfan Syndrome
- Joint laxity
- Lens dislocation causing blurred vision
- Aortic dissection causing chest pain
Homocystinuria
- Joint laxity
- Short-sightedness
- Thromboemoblic phenomena causing myocardial infarction
- Also presents with psychiatric symptoms and pyramidal features
61
How is homocystinuria managed?
Pyridoxine and folic acid supplementation
62
What is the diagnosis in a patient with rash on the palms and feet, jaundice, diarrhoea after allogeneic stem cell transplant? What would be the necessary investigations?
GVHD
Ix: rule out infective causes - cultures for blood, urine, stool, PCR for CMV, HHV-6, adenovirus, parvovirus
63
How is GVH managed?
IV corticosteroids
Resistant: OKT3, rituximab, anti-thymocyte globulin
64
What is the next step if a patient with MALToma tested negative for H pylori on biopsy?
For non-invasive H pylori testing, then if positive: for triple therapy
65
What is the treatment for advanced gastric lymphoma?
R-CHOP: Rituximab - Cyclophosphamide + Vincristine + Doxorubicin + Prednisolone
66
If you are considering Multiple Myeloma vs Waldenstrom in a confused patient with prominent retinal veins, what laboratory test would you look into and what would be the test to establish cause?
What symptom could make you consider MM or Waldenstrom in this patient?
Look at serum protein, it will be elevated
Look into Ca it will most likely be elevated in MM while N in Waldenstrom
Look into urea/creatinine: they will be elevated
Serum protein electrophoresis will show paraprotein in both MM and Waldenstrom
Bone Marrow Trephine is to be done which will show IgG/IgA in MM and IgM in Waldenstrom
Confusion + prominent retinal veins —> think hyperviscosity
67
What is the WHO diagnostic criteria for Polycythaemia Vera?
Major criteria:
> Haemoglobin of > 165 g/l in men or haematocrit >49% and 160 g/l in women or haematocrit >48%, or elevated red cell mass > 25% above the mean normal predicted value
> Bone marrow biopsy showing hypercellularity with prominent erythroid, granulocytic and megakaryocytic proliferation
> Presence of JAK2 617V>F mutation or other functionally similar mutations, such as the exon 12 mutation of JAK2.
Minor criteria:
> Serum EPO level below the normal range
All 3 major or 2 major + 1 minor
68
Female with menorrhagia and bruising + prolonged aPTT. Haemophilia vs vWD
What test to order to diagnose vWD? Vs Factor V leiden deficiency?
Von Willebrand Disease, it is inherited and affects both genders. aPTT is prolonged due to decreased activity of CF VIII in associated with low vWF.
Haemophilia is X-linked recessive and thus only affects males
VWF activity assay is also called ristocetin co-factor assay and will be low in vWD
Activated Protein C ratio will be low in Factor V deficiency
69
What is the diagnosis in a multiparous patient with ARDS 6h after transfusion? What would you expect in 2D echo and CXR?
TRALI
2D echo will be unremarkable
CXR will show pulmonay infiltrates (alveolar shadowing)
70
What is the diagnosis in a patient with severe anaemia (Hb 70g/L), HbA2 4%, and FOBT (+)?
HbA2 >3.5% is diagnostic for beta-thalassaemia minor hence HbA2 4% means there is thalassaemia.
FOBT (+) means there is GI blood loss, but is not consistent with thalassaemia minor (should be asymptomatic)
Severely low anaemia in this case, while with contribution from GI blood loss, there could be concomitant iron deficiency anaemia
Hence diagnosis is beta thalassaemia minor with iron deficiency anaemia
71
Diagnosis of a patient with t(15;17) mutation?
APML
72
Primary pathology of AIHA in CLL?
Autoreactive T cell induction —> drives B cell antibody production
73
What should be done in a patient with Heparin-induced Thrombocytopenia?
STOP heparin and shift to bivalirudin, DOACs, or fondaparinux
NOT enoxaparin, or warfarin
Should not OBSERVE only due to risk of thrombosis in HIT
74
What is the management in a patient with grey skin, heart failure, diabetes?
Iron chelation therapy with desferrioxamine given 8-12 hours per day for 5-7 days per week
75
What is the diagnosis and subsequent management in a patient with current joint bleeding, melaena, hypovolemic shocks but with no previous issues with bleeding?
Acquired haemophilia, look for trigger (eg rheumatoid arthritis, autoimmune disease, and malignancy which is due to “inhibitor” to CF VIII
aPTT will be prolonged which will not correct on mixing studies. Inhibitor can then be measured by Bethesda assay
Treatment will be rCF VII and NOT CF VIII as inhibitor will rapidly inhibit the CF VIII that is transfused. CF VII, on the otherhand, supports thrombin generation which bypass the need for CF VIII
76
What is the gold standard for diagnosis of PNH?
Flow cytometry using Fluorescent aerolysin: CD59 and CD55 (DAF) negative
77
What is the triad of PNH?
Haemolytic anaemia
Pancytopenia
Large vessel thromboses
78
Chronic DIC is usually due to?
Prostate cancer
79
How to manage patient with sickle cell disease having frequent hospital admissions?
Hydroxyurea is first line to increase haemoglobin
Frequent exchange transfusion in those who fail to respond to hydroxyurea
80
Triad of mucosal bleeding, visual changes and neurological symptoms pertain to what syndrome?
Hyperviscosity Syndrome
81
What are the clinical symptoms of APS?
Arterial and venous thromboses
Recurrent first trimester miscarriages
Livedo reticularis
Chorea
Libman-Sacks endocarditis
82
Preferred screening test for Iron deficiency anaemia?
Serum ferritin
83
Triad of TTP used in practice (vs pentad)
Thrombocytopaenia
Schistocytes
Elevated LDH
84
What is the treatment of choice in patients with Waldenstrom experiencing acute hyperviscosity symptoms? Treatment for Waldenstrom?
Plasmapharesis for hyperviscosity
Rituximab alone x 4 cycles for treatment-naive Waldenstrom with low disease burden
Rituximab + Bortezomib + Dexamethasone x 4-6 cycles for treatment-naive Waldenstrom with high disease burden
Ibrutinib for relapsed or progressive Waldenstrom
85
The triad of thrombocytopenia, eczema, and recurrent infections pertain to what diagnosis?
Wiskott-Aldrich Syndrome
86
First line treatment in HUS?
Plasmapharesis
87
What is the marker of myeloma activity or disease burden?
Beta-2 microglobulin (>2.5 is associated with 5-year disease progression of 64%)
88
What is POEMS?
Polyneuropathy: ascending symmetric
Organomegaly: liver, lymph nodes, spleen
Endocrinopathies
Monoclonal gammopathy: EXCEPT classical myeloma
Skin changes
89
Management in an immunocompromised patient with fever and patchy consolidation on CXR, already on meropenem and vancomycin and not improving?
ADD coverage for fungal infections: Invasive aspergillosis more common than candidiasis
Voriconazole > Posaconazole > Amphotericin
90
Diagnostic consideration in a patient with recurrent DVT but no other ssx of APAS?
Consider Factor V Leiden AKA activated protein C resistance as it is the most common inherited cause of thrombophilia
91
What is the investigation used to differentiate primary vs secondary polycythaemia?
EPO measurement
- Primary will have low EPO
- Secondary will have high EPO
92
What is the cause of crop of black lesions at arms and legs in a patient with neutropenia on active chemotherapy? What is the subsequent management?
Ecthyma gangrenosum from Pseudomonas aeruginosa
Start broad-spectrum antibiotics with pseudomonal cover
93
What is the investigation of choice for HIT?
CLINICAL diagnosis but if need be, HIPA or heparin-induced platelet aggregation and SRA or serotonin release assays are preferred
94
How is TTP managed acutely vs long-term
Acute: Plasmapharesis in 24h + Prednisolone
Long-term: Aspirin ONCE platelet has recovered to >50 to reduce risk of platelet aggregation
Refractory: Eculizumab
95
Immediate management in DIC?
Treatment of infection - IV abx
Fresh Frozen Plasma > Cryoprecipitate to replace coagulation factors
Platelet transfusion
96
What is NICE guidelines on management of unprovoked DVT?
Screen for malignancy
- Hx and PE
- Baseline tests: FBC, KFT, LFT, PT, aPTT
Additional tests based on symptoms
- CXR in those with SOB
- ECG in those with arrhythmia
97
What procedure could cause both iron deficiency and B12 deficiency?
Partial gastrectomy
- HCl for Fe
- Intrinsic factor fo B12
98
What is the diagnosis in a patient with anaemia, dark-coloured urine in the morning, low haptoglobin, high bilirubin, portal vein thrombosis? What is the subsequent investigation?
Anaemia, Low haptoglobin, High bilirubin — Intravascular haemolysis
Haemolysis + thrombosis in unusual places (portal vein, Budd-Chiari) + dark-coloured urine in the morning — PNH
PNH test is flow cytometry negative for CD 55 and CD 59, Ham test
99
What is the management of acute chest syndrome?
Airway precaution
Chest physiotherapy and Incentive spirometry
100
How to manage HIT?
Determine type of HIT first
Type 1: within 48h hours and Platelet count rarely <100
Type 2: more than 5 days since starting heparin and platelet count would commonly be <100
Type 1: Continue heparin and observe — PC will likely to return to normal
Type 2: Discontinue heparin and shift to non-heparin anticoagulation (Bivalirudin, Lepirudin, Danaparoid, Argatroban)
101
How to manage acute stroke in a setting of sickle cell disease?
Urgent exchange transfusion
Long-term treatment: Hydroxyurea > 5-Azacytidine
102
What is the diagnosis in a patient post-HSCT that presents with oedema, jaundice, ascites, elevated LFT ALP GGT bilirubin?
Veno-occlusive disease of the liver AKA Sinusoidal Obstruction Syndrome
- Complication of ALLOGENEIC HSCT
103
What is the diagnosis in a patient with anaemia, thrombocytopenia, massive splenomegaly, lymphocytosis, monocytopenia? Confirmatory test?
Hairy Cell Leukaemia
Confirmed by BM: abnormal lymphocytes with abnormal villous projections
104
What is the malignancy presents with chest infection, high WCC, DIC, in a background of anaemia, and thrombocytopenia? Treatment?
APML treated with ATRA
105
What is the diagnosis in a patient with APL treated with ATRA which developed fever, SOB, and oedema? What are the other expected symptoms? How to manage?
Differentiation Syndrome - ARDS, fever, weight gain, heart failure, renal failure, hypotension
Managed with high-dose dexamethasone 2x a day + ventilatory support + BP support
106
What is the diagnosis in a patient with purple discolouration of fingertips, ears, nose + evidence of hemolysis and (+) clumped cells? Expected laboratory findings?
Cold agglutinin disease
(+) direct coombs test if Anti-C3 antiserum is used as sample is not allowed to cool
107
What is the implication if a patient with lymphoma remission presents with cold agglutinin disease?
There is a recurrence of lymphoma
108
What is the initial investigation if considering Multiple Myeloma?
Urine electrophoresis
109
How to managed ITP?
Oral corticosteroids
Alternative: IVIG
Spelenectomy
110
What is the most likely diagnosis in a young adult with anterior mediastinal mass, lymphadenopathy, and elevated LDH? What is the gold standard investigation?
Hodgkin Lymphoma - confirmed through lymph node biopsy
111
What is the treatment of choice in Hairy Cell Leukaemia?
Cladribine
Relapse or refractory: rituximab
112
First line management of myeloma?
Younger patient with no comorbids — aggressive: Thalidomide + Bortezomib + Dexamethasone
Older patient or with comorbids — Melphalan + Prednisone
113
Antidote for heparin and LMWH enoxaparin?
Protamine sulfate
114
Andexanet alfa is the antidote for which anticoagulation?
Apixaban
Rivaroxaban
115
Reversal agent for dabigatran?
Idarucizumab
116
What is the diagnosis in a patient with persistent and markedly elevated eosinophils + lung involvement + restrictive cardiomyopathy + angioedema/urticaria?
Hypereosinophilic Syndrome
117
What is the diagnosis in a patient with hemolysis + jaundice + splenomegaly + gallstones + high MCHC?
Hereditary Spherocytosis - diagnosed with EMA binding test
118
What is the prenatal advice for patients with a sibling with beta thalassaemia major?
Perform haemoglobin electrophoresis before conception
119
Most likely diagnosis in a patient with microcytic anaemia + Normal ferritin and TIBC + Normal endoscopy
Beta thalassaemia trait
120
What is the NICE first line management in febrile neutropenia?
Piperacillin + Tazobactam
121
What is the diagnosis in a patient developing hemolysis while ice skating with negative DAT? How to establish diagnosis?
Paroxysmal cold haemoglobinuria
Finding of Donath-Landsteiner antibody: patient serum is incubated with RBC at 4C then warmed, which causes hemolysis
122
What is the diagnosis in a patient with unexplained anaemia, reticulocytopenia, with preservation of other cell lines? Expected BM finding?
Pure red cell aplasia secondary to autoimmune, HIV, HBV
BM: absent RBC precursors, absent erythropoiesis
123
Inherited red cell aplasia?
Diamond Blackfan Anaemia
124
What is the management in a patient with DVT in a background of IBD flare?
DVT is ideally treated with LMWH, however, in a setting of IBD flare where surgery might be needed, UFH is preferred for easier reversal
125
What is the management in a patient with AIP?
IV haem arginate + carbohydrate loading
126
What is the most likely diagnosis in a patient with DVT in a setting of minimal change glomerulonephritis?
Antithrombin III deficiency. Proteins such as ATIII are lost via urine leading to thrombotic risk
127
What is the management in a patient with CLL?
Asymptomatic: observation and follow-up
Active disease:
First line - Imatinib
Triple therapy - FCR (Fludarabine + Cyclophosphamide + Rituximab)
Alternative: Ibrutinib
128
