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MRCP part 1 > Haematology > Flashcards

Haematology Flashcards

1
Q

Combined B and T cell disorders

A

Severe combined immunodeficiency
Ataxic telangiectasia
Wiskott-Aldrich syndrome
Hyper IgM syndromes

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2
Q

Digeorge syndrome features

A

T cell disorder
Congenital heart disease (ToF)
Learning difficulties
hypocalcaemia
recurrent viral/fungal diseases
cleft palate

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3
Q

severe combined immunodeficiency features

A

B and T cell disorder
recurrent infections

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4
Q

ataxic telangiectasia features

A

autosomal recessive
B and T cell disorder
cerebellar ataxia
telangiectasia (spider angiomas)
recurrent chest infections
10% risk of developing malignancy, lymphoma, or leukaemia

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5
Q

Wiskott-Aldrich syndrome features

A

X-linked recessive
recurrent bacterial infections
eczema
thrombocytopenia
low IgM levels
increased risk of autoimmune disorders and malignancy
B and T cell disorder

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6
Q

Hyper IgM syndrome features

A

B and T cell disorder
infection/PCP
hepatitis
diarrhoea

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7
Q

SCID underlying defect

A

X-linked
Defect in common gamma chain, IL2 receptor

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8
Q

Ataxic telangiectasia underlying defect

A

defect in DNA repair enzymes

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9
Q

Wiskott-Aldrich underlying defect

A

defect in WASP gene

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10
Q

Hyper IgM underlying defect

A

mutations in CD40 gene

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11
Q

DiGeorge syndrome underlying defect

A

22q11.2 deletion
failure to develop 3rd and 4th pharyngeal pouches

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12
Q

Common variable immunodeficiency

A

Low antibody levels
IgG, IgM, IgA low
recurrent chest infections
B cell disorder

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13
Q

Bruton’s congenital agammaglobulinaemia features

A

B cell disorders
X-linked recessive
Recurrent bacterial infections
Absence of B cells with reduced immunoglobulins of all classes

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14
Q

selective immunoglobulin A deficiency features

A

B cell disorder
maturation defect in B cells
recurrent sinus and respiratory infections
associated with coeliac disease
severe blood transfusion reactions

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15
Q

chronic granulomatous disease features

A

neutrophil disorder
recurrent pneumonia and abscesses

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16
Q

Chediak-Higashi syndrome features

A

neutrophil disorder
partial albinism and peripheral neuropathy
recurrent bacterial infections
giant granules in neutrophils and platelets

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17
Q

leukocyte adhesion deficiency features

A

recurrent bacterial infections
delay in umbilical cord sloughing
absence of neutrophils/pus at sites of infection

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18
Q

T14;18 translocation

A

follicular lymphoma
increased BCL-2 transcription

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19
Q

t11:14 translocation

A

mantle cell lymphoma
deregulation of the cyclin D1 (BCL-1) gene

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20
Q

t(8;14)

A

seen in Burkitt’s lymphoma
MYC oncogene is translocated to an immunoglobulin gene

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21
Q

t(15;17)

A

seen in acute promyelocytic leukaemia (M3)
fusion of PML and RAR-alpha genes

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22
Q

t(9;22)

A
  • Philadelphia chromosome
    CML
23
Q

Acute promyelocytic leukaemia

A

t15;17 translocation
presents younger than other AML
DIC/ thrombocytopenia at presentation
good prognosis
Treated with all-trans retinoic acid

24
Q

acquired causes of methaemoglobulinaemia

A

sulphonamides
nitrates
dapsone
sodium nitroprusside
primaquine
aniline dyes

25
Q

differentiating features of MGUS from myeloma

A

normal immune function
normal beta-2 microglobulin levels
lower level of paraproteinaemia than myeloma
stable level of paraproteinaemia
no clinical features of myeloma

26
Q

Burkitt lymphoma geneticd

A

c-myc gene translocation
t(8;14)
EBV

27
Q

microscopy findings Burkitt lymphoma

A

‘starry sky’ appearance: lymphocyte sheets interspersed with macrophages containing dead apoptotic tumour cells

28
Q

laboratory tumour lysis syndrome

A

high uric acid
high potassium
high phosphate
low calcium

29
Q

antiphospholipid syndrome in pregnancy

A

recurrent miscarriage
IUGR
pre-eclampsia
placental abruption
pre-term delivery
venous thromboembolism

30
Q

Mx antiphospholipid syndrome in pregnancy

A

low-dose aspirin once pregnancy confirmed
LMWH fetal heart USS-> 34 weeks

31
Q

Li-Fraumeni syndrome

A

autosomal dominant
mutations to p53 tumour suppressor genes
sarcomas <45 and leukaemias

32
Q

BRCA1-2

A

Breast and ovarian
prostate

33
Q

Lynch syndrome

A

autosomal dominant
colonic cancer and endometrial cancer at young age
Amsterdam criteria

34
Q

Gardners syndrome

A

autosomal dominant familial colorectal polyposis
multiple colonic polyps
skull osteoma, thyroid cancer, epidermoid cysts

35
Q

vWD investigations

A

prolonged bleeding time
APTT may be prolonged
factor VIII levels may be moderately reduced
defective platelet aggregation with ristocetin

36
Q

vWD management

A

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

37
Q

Hyposplenism blood film

A

post-splenectomy, coeliac disease
target cells
Howell-Jolly bodies
Pappenheimer bodies
siderotic granules
acanthocytes

38
Q

Iron-deficiency anaemia blood film

A

target cells
‘pencil’ poikilocytes
if combined with B12/folate deficiency a ‘dimorphic’ film occurs with mixed microcytic and macrocytic cells

39
Q

myelofibrosis blood film

A

‘tear-drop’ poikilocytes

40
Q

intravascular haemolysis blood film

A

schistocytes

41
Q

megaloblastic anaemia blood film

A

hypersegmented neutrophils

42
Q

management of hereditary angioedema

A

IV C1-inhibitor concentrate, fresh frozen plasma (FFP) if this is not available
danazol (anabolic steroid) prophylaxis

43
Q

Warm AIHA causes

A

idiopathic
autoimmune disorders, SLE
neoplasia- lymphoma and CLL
drugs; methyldopa

44
Q

methaemoglobulinaemia

A

NADH methaemoglobinaemia reductase deficiency: ascorbic acid
IV methylthioninium chloride (methylene blue) if acquired

45
Q

warfarin blood picture

A

PT prolonged
APTT, bleeding time, platelet count normal

46
Q

aspirin blood picture

A

bleeding time prolonged
PT, APTT, pt count normal

47
Q

heparin blood picture

A

APTT prolonged
PT, Bledding time, pt count normal

48
Q

DIC

A

pt low
APTT, PT, bleeding time prolonged

49
Q

TTP management

A

no antibiotics - may worsen outcome
plasma exchange is the treatment of choice
steroids, immunosuppressants
vincristine

50
Q

FFP

A

Universal donor is AB
PT/APTT ratio >1.5
Significant but not major haemorrhage

51
Q

Cryoprecipitate

A

Replaces fibrinogen (if concentration <1.5g/l)

52
Q

prothrombin complex concentrate

A

emergency reversal of anticoagulation

53
Q

thymoma associations

A

MG
red cell aplasia
dermatomyosiits
SLE/SIADH

54
Q
A

MRCP part 1 (5 decks)

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