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FRACP 2023 Cram Homicrons Edition > Haematology > Flashcards

Haematology Flashcards

1
Q

Complications post splenectomy & prevention of infection

A

Risk sepsis 5%, most in 2yrs
- Higher risk if Hbopathies, immunodeficiency, storage disease/haemolytic anemia

Organisms
80% encapsulated bacteria
- Strep Pneumo
- H.Influenzae
- N.Meningitides
Protozosl
Capnoytophaga/C.Cynodegmi (animal bite)

Rx: broad spec- cephalosporin + vanc

Prevention:
Pneumococcal
- Prevenar 13 x1: >12mo
- Prevenar 23 x2: 4-5yr, then 5 yrs post
Meningococcal: ACWY/B x1
Annual influenza vaccine

AB prophyaxis: oral amoxicillin, pen V until 16yrs or lifelong if severe immunocompromise/high risk

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2
Q

DDx for splenomegaly & definition

A

> 2cm below L) costal margin
(usually 2-3x normal size to be felt)

Structural: harmatoma, polysplenia, cyst, haemangioma

Haem: IDA, EM haematopoesis, haemolysis

Storage disease: lipidoses, MPS, CHO defects

Immunological: autoimmune conditions

Malignancy: leukaemia, lymphoma, mets

Congestive: CCF/portal HTN

Infection

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3
Q

Hypo vs hypersplenism & causes.

A

Hypersplenism
- Increased function- sequestration/destruction of cells, increased BM activity/haematopoesis
- Banti syndrome: obstruction in hepatic/splenic or portal veins = hypersplenism, Rx splenectomy vs portocaval shunt depending on site of obstruction

Hyposplenism
- Neonate/premature
- Haemolysis, sickle cell disease (6mo onwards)
- Autoimmune diseases
- GI/hepatic disorders
- Meds: methyldopa, steroids, PN,radiation
- Ix: Howell-Jolly/Heinz bodies on film, poor technetium uptake, reduced IgM memory B cells

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4
Q

What Dx contributes to activated protein C resistance?

A

Protein C/S (cofactor): degrade 5a/8a
- leads to HYPERCOAGULABLE state as prolonged clot degradation

Factor 5 Leiden (APC resistance)
- Most common inherited risk factor for thrombosis (5% of white population)
- F5 = procoagulant clotting factor that amplifies the production of thrombin

Ix: APC resistance assay- should prolong APTT in F5L in doesnt, genetics

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4
Q

What Dx contributes to activated protein C resistance?

A

Protein C/S (cofactor): degrade 5a/8a
- leads to HYPERCOAGULABLE state as prolonged clot degradation

Factor 5 Leiden (APC resistance)
- Most common inherited risk factor for thrombosis (5% of white population)
- F5 = procoagulant clotting factor that amplifies the production of thrombin

Ix: APC resistance assay- should prolong APTT in F5L it doesn’t, genetics (FISH)

Rx: long term anticoagulation if homozygote, education- COCP avoidance heterozygotes

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5
Q

Prothrombin 20210 features

A

Second most common thrombophilia
- Gain of function mutation at position 20210
- 30% higher than standard levels
- Precursor of thrombin- elevated levels = more clot

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6
Q

Protein C/S, antithrombin deficiency features/Rx

A

Rare but strong cause of thrombophilia
- Counter-regulatory protein
- Stops formation prothrombin - thrombin (inhibits 5a/8a)
- Deficiency = more clots

Ix: Protein C/S/AT chromogenic clotting assay

Rx: FFP, protein C/S replacement

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7
Q

Risk of VTE with F5L vs Protein C/S/AT and prothrombin mutations

A

AT: 16x risk
Protein C: 7x risk
Protein S: 5x risk
F5L: 4-5x risk
Prothrombin: 3-4x risk

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8
Q

Methaemaglobinemia- types, Rx

A

Hereditary
- AR, cytochrome B5 reductase deficiency
- AD HbM diseases (altered globin gene)
- Diminished reduction of Hb Fe3+ to HbFe2+
- Lifelong cyanosis, otherwise asymptomatic

Acquired
- Ingestion of drugs

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8
Q

Methaemaglobinemia- types, Rx

A

Hereditary
- AR, cytochrome B5 reductase deficiency
- AD HbM diseases (altered globin gene)
- Diminished reduction of Hb Fe3+ to HbFe2+
- Lifelong cyanosis, otherwise asymptomatic

Acquired
- Ingestion of drugs

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9
Q

Pathophys/Ix for NAIT

A

Common cause of low platelets
Maternal platelt ABs reacting against paternal

  • HPA1-a, 5b, 15b highest in europeans,
  • HPA4b Asians

Can occur in first pregnacy
Risk of IVH up to 20%

Rx: platelet transfusions

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10
Q

Alpha thalassemia trait findings?

A

αo mutation = no α-chains
α+ mutations = decreased α-globin chain

Minima: 1 defective- asymptomatic
Minor: 2 defective - mild anemia
HbH: 3x defective - mod anemia, transfusion dependant
Barts: 4x defective- FDIU/hydrops

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11
Q

B thalassemia path findings?

A

Decreased HbA (need to replace with HbA2/F)
B thal minor
(B+/B) = increased HbA2 or (B+/B0) = increased HbA2 & F

B thal intermedia
(B+/B+) = increased HbF

B thal major
(B0/B0) = no HbA, severe anemia

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12
Q

Fanconi anemia Sx

A

Most common inherited aplastic anemia (AR)
- Chromosomal fragility, oxidative damage to RBCs
- 3-14yrs onset, most haem > physical

Marrow failure <10yrs
- Elevated AFP
- Hypocellular/fatty BMA
- Dx: chromosomal breakage studies (DEB/mitomycin C)

Hyperpigmentation of trunk/neck/axilla & groin
Cafe au lait spots, vitiligo

ABSENT RADII/ supernumary or bifid thumbs

Short stature, abnormal genitalia/underdeveloped in males

Microcephaly, small eyes

Renal, cardio, gastro malformations

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13
Q

Child presents with profound anaemia at 4mo, noted to have triphalangeal thumb & high arched palate.

Ix: macrocytic anemia, increased HbF/i-antigen, increased erythrocyte adenosine deaminase (ADA) activity, low retics

A

Diamond Blackfan Anaemia
AD- RPS19 gene (ribosomal subunit of RBC)

  • Normochromic/macrocytic anemia 2-6mo
    +/- hydrops 25%
  • Craniofacial abnormalities 50%
  • Skeletal abnormalities 30%
  • Renal tract & cardiac abnormalities 30-40%
  • Predisposed to MDS, AML, sarcomas

Ix: as above, normal other cell lines
Rx: steroids 80% response, transfusions - good prognosis 75% at 40yrs

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14
Q

Pearson Marrow-Pancreas Syndrome

A

Mitochondrial disorder
FTT
Exocrine pancreas dysfunction
Liver and renal tubular defects
Malabsorption
Myopathy

Macrocytic anaemia, sideroblasts/vacuolated erythroblasts & elevated HbF

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15
Q

2y/o child presenting with significant normocytic anemia and low reticulocytes, borderline neutropenia- 1-2 weeks after viral URTI

A

TEC

> 1yr, post viral illness, no other abnormalities, normal MCV (DBS macrocytic)

HbF/i-antigen & ADA normal

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16
Q

Treatment of Fanconi Anaemia

A

Monitor endocrine, blood counts
Supportive
- Androgens 50% response
- G-CSF/EPO
Curative- HSCT

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17
Q

Shwachman-Diamond Syndrome

A

AR- SBDS gene
- Ribosomal dysfunction
- Pancreatic insufficiency (2nd most common cause)
- Neutropenia 85-100%, anaemia 50%, thrombocytopenia/pan 25%, MDS 10-30%
- Flared ribs/delayed bone maturation & FTT

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18
Q

Dyskeratosis congenita

A

X-linked recessive/AD/AR
Telomere maintainence
- Reticular/lacy rash, leukoplakia & nail dystrophy
- BM failure 90%
- Eye abn 50%- epiphora, cataracts, strabismus
- Skeletal/dental abnormalitis

19
Q

Coats’ plus syndrome

A

mutations in the CTC1 gene; results in short telomeres

  • Vasculature ectasia: Retinal telangiectasia, GI bleeding and portal HTN
  • Intracranial calcification, leukodystrophy, brain cysts,
  • Osteopenia,

Additional manifestations of DC, which include sparse and graying hair, dystrophic nails, and anemia

20
Q

Revesz Syndrome

A

Dystrophic nails, leukoplakia, aplastic anemia, retinopathy & cerebellar hypoplasia

21
Q

Hoyeraal-Hreidarsson syndrome

A

aplastic anemia, immunodeficiency, microcephaly, growth retardation, and cerebellar hypoplasia

22
Q

Findings on this film?

A

Howell Jolly Bodies
- Splenectomy/functional asplenia (sickle cell)
- Fragments of RBC nucleus

23
Heparin induced thrombocytopenia- cause/Rx
Naturally occurring GAG produced by basophills/mast cells Treatment for cardioembolic stroke (3mo)/ VST(3-6) HIT = formation of platelet factor 4 antibodies
24
Treatment of VWF?
1. Desmopressin – increases the amount of circulating VWF by release from endothelial cells May increase level of VWF + F8 by 3-5 x over 8-10 hours - 1c type does not respond 2. Tranexamic acid Antifibrinolytic agent Prevents dissolution of haemostatic plug
25
Treatment of VWF?
1. Desmopressin – increases the amount of circulating VWF by release from endothelial cells May increase level of VWF + F8 by 3-5 x over 8-10 hours - 1c type does not respond 2. Tranexamic acid Antifibrinolytic agent Prevents dissolution of haemostatic plug
26
Differences between haemophilia & VWF
Haemophilia A - Boys - Deep tissue bleeds - Normal bleeding time vWF - Boys = girls - More common - More mucosal bleeding
27
Types of VWF
Type 1 (80%)- quant deficiency - AD - ↓ VWF activity/Rco - All multimers present but decreased number Type 2 (20%) - qualitative deficiency 2A (10-20%): ↓activity/Rco, NF8, dec. large monomers 2B (5%) - ↓activity/^Rco, NF8, dec. large monomers 2M (↓activity/Rco) 2N (normal activity/Rco, low F8, normal electrophoresis) Type 3- complete deficiency (AR) - No vWF - Low F8 - Undetectable electrophoresis
27
Types of VWF
Type 1 (80%)- quant deficiency - AD - ↓ VWF activity/Rco - All multimers present but decreased number Type 2 (20%) - qualitative deficiency 2A (10-20%): ↓activity/Rco, NF8, dec. large monomers 2B (5%) - ↓activity/^Rco, NF8, dec. large monomers 2M (↓activity/Rco) 2N (normal activity/Rco, low F8, normal electrophoresis) Type 3- complete deficiency (AR) - No vWF - Low F8 - Undetectable electrophoresis
28
Symptoms of renal vein thrombosis
Most common spontaneous TE in neonates - 25% of cases are bilateral Clinical manifestations = 1) haematuria 2) abdominal mass 3) thrombocytopaenia (consumptive) Common in insulin dependant DM
29
Most important risk factor for VTE in paediatrics?
Most important RF – 90% neonatal VTE 60% of childhood VTE CVCs may damage endothelial lining and/or cause blood flow disruption
30
Peak incidences of VTE in paediatric population
Infants <1yr highest Adolescents 2nd peak
31
MOA Heparin, monitoring, SFx
Inhibits Xa & thrombin Ix: APTT/ anti Xa level - Reversal with protamine sulfate Risks: Bleeding Osteoporosis Heparin-induced thrombocytopaenia (HIT) LMW Heparin - smaller protein - less effect on thrombin Ix: anti fXa level Less easily reversed, delayed onset of action Prolonged half life if ESRF Less risk of HIT/osteoporosis
32
MOA Warfarin, monitoring, SFx
Decreased activation of vit K, TV factors, protein C & S Monitoring - INR (5-7 days to reach therapeutic level) - Note FVII and protein C are reduced first SFx: Bleeding Teratogenic T1 mainly (chondrodysplasia punctate – nasal hypoplasia, excessive calcifications in epiphyses and vertebrae)
33
Sx/Ix in TTP
TTP: Ab mediated destruction of ADAMTS-13 Fever Microangiopathic haemolytic anaemia Thrombocytopaenia Abnormal renal function CNS changes Ix: DAT pos anaemia, abnormal RBCs (schistocytes, spherocytes, helmet cells), high retics, low plts, low MMP, elevated BUN/creat
34
Rx Fanconi Anemia
Ca/endo monitoring HSCT Androgens- oxymetholone GCSFm + EPO
35
High risk antibodies (maternal) for haemolytic disease of the newborn?
Anti-D, anti-c, anti-Kell
36
Dx on film? Low Hb, microcytosis, RDW normal
Teardrop cells Target cells B-Thalassemia
37
Dx on film? Low Hb, microcytic, raised RDW
Pencil cells, anisocytosis, hypochromasia Iron deficiency anemia
38
Dx(s) on film?
Spherocytes, Howell-Jolly bodies Hereditary spherocytosis if EMA binding reduced/FHx Warm haemolytic anemia if DAT positive, low haptoglobin (90% of AIHA)
39
Dx on this film?
Cold AIHA
40
Half life of clotting factors?
Factor 8 = 12h (shortest) Factor 9 - 24h/1d Factor 10 = 30h Factor 7/fibrinogen = 2-4d Prothrombin= 3.5d Factor 13 = 5-7d (longest, stabilises fibrin)
41
What clotting factors are reduced in neonates?
1. Vitamin K dependent factors – 2, 7, 9, 10 and contact factors 11, 12 reduced by 50% adult values 2. Anticoagulant proteins – antithrombin, protein C, protein S
42
Differences between coagulation disorders/blood vessel & platelet disorders
Coagulation (clotting factors i.e haemophilia) - Soft tissue/joint haematomas - Delayed bleeding - FHx bleeding - Mainly male patients Platelet/BV (inc VWBD) - Petechiae & ecchymoses - Persistent bleeding from superficial wounds - Rare FHx - Mainly female
43
Conditions with raised APTT/PT
APTT = INTRINSIC pathway – VIII (haemophilia A), IX (haemophilia B) X, XI, XII factor deficiencies (corrects on mixing test) - Lupus anticoagulant (non-correction on mixing test) - Heparin (prolonged thrombin time, normal reptilase) PT/INR = EXTRINSIC pathway - Assesses common pathway and factor FVII - Factor VII deficiency / inhibitor - Vitamin K deficiency (mild) or early liver disease - Warfarin
44
What haematological conditions is desmopressin used in?
Haemophilia A - Stimulates release of endogenously produced FVIII – peaks after 30-60 minutes VWB -increases the amount of circulating VWF by release from endothelial cells
45
Master transcription factor for erythropoiesis?
GATA1 - Differentiates stem cells to erythroid or myeloid lineage - Linked to AML/TMD in T21& Diamond-Blackfan

FRACP 2023 Cram Homicrons Edition (29 decks)

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