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Haem/Onc > Inherited Bleeding Disorders, ASPHO > Flashcards

Inherited Bleeding Disorders, ASPHO Flashcards

1
Q

most common SHA mutation?

A

intron 22 inversion of F8 gene

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2
Q

mild-mod HA mutations tend to be?

A

point mutations…

mod: a lot of missense mutations
mild: mostly pt muations

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3
Q

hemophilia b types of mutations?

A

severe: small and large deletions

mild-mod: missense mutations

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4
Q

mild hemophilia factor level?

A

5-40%

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5
Q

when does SHA prsent?

A

birth-3 yrs

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6
Q

mod hemophilia presents when? mild?

A

mod: 2-10
mild: 5-21

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7
Q

prese of SHA?

A
  • fam hx
  • circumcision bleeding
  • heel stick bleeding
  • bruising
  • vaccine related bleeding
  • mucosal bleeding
  • jt bleeding
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8
Q

pres of mild HA?

A

often after surgery or trauma

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9
Q

rate of inhibitor development in SHA vs. SHB?

A

SHA 25%; SHB 5%

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10
Q

moderate HA :inhibior risk?

A

1-2%

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11
Q

risk for arhtopathy is ___ ___ ___ in SHA, ___ ___ ___ ___ in mod, __ in mild

A

universal without ppx; very common without ppx; rare

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12
Q

once out of first yr of life, most common area for bleeding in hemophilia?

A

joints! esp elbows, knees, ankles

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13
Q

retroperitoneal hemorrahge usually results from what in hemophilia? symptoms?

A
  • iliopsoas muscle
  • pain in flank, groin, or rarely thigh (referred pain)
  • pain exacerebated and localized to RLQ by extending leg (stretching the muscle)
  • difficulty walking (typically walk hunched over to relax the iliopsoas)
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14
Q

other than PTT and F8/F9 other test you can do at diagnosis?

A

geentic testing

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15
Q

3 ways to do prenatal testing?

A
  • amiocentesis
  • percutaneous umb blood sampling
  • chorionic villous sampling
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16
Q

can you test factor levels prenatally?

A

not reliable… F9 levels are physiologically low in fetuses…F8 levels can be falsely high

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17
Q

carriers for HA can be symptomatic due to? what is this? level would fall in what range? need to be sure to rule out what?

A

lyonization…non-random x-chrom inactivation…mild HA range…vWD

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18
Q

most reliable way to diagnose a hemophilia carrier?

A

genotyping (first find molec defect in the index case)

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19
Q

meds for HA?

A

factor replacement
DDAVP
antifibrinolytic therapy

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20
Q

tertiary ppx in hemophilia =?

A

after onset of joint disease

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21
Q

secondary ppx in hemophilia?

A

after 2nd joint bleed

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22
Q

primary ppx in hemophilia?

A

before 2nd joint bleed, for all pts with severe and about 20% of pts iwth moderate

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23
Q

ppx dosing for HA?

A

25-40 u/kg/dose 3x per week

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24
Q

ppx dosing for HB?

A

50-100 u/kg/dose 2x per week

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25
Q

on demand therpay appropraite for whom?

A

mild hemophilia pts, most mod pts

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26
Q

chronci arthopathy develops when?

A

-can develop even after one jt bleed though generally takes several bleeds in same joint

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27
Q

what’s a target joint?

A

multiple bleeds in the same joint…3 bleeds in 6months or 4 in one year

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28
Q

management of chronic arthropathy?

A
  • initiation of secondary ppx
  • surgery…synovectomy
  • pain managenemtn
  • physio
  • walking aids, orthotics
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29
Q

**tx intracranial bleed how?

A

keep factor level at 100% for at least 2 weeks, continue tx with ppx dosing indefinitiely

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30
Q

retroperitoneal bleed: tx how?

A

80% correction x at lesat a few days…follow up with short-term ppx (weeks)

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31
Q

muscle bleed: tx how?

A

40-60% correction, at least until can use muscle with no pain

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32
Q

**joint bleed: tx how?

A

40-60% correction, generally 1-3 dose suffices

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33
Q

tx mucosal bleed how?

A

30-50% correction, add antifibrinolytics

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34
Q

tx: sc hematoma?

A

observation! unless in “bad” location like buttocks, give factor

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35
Q

**pre-op tx for srugery?

A

100% correction pre-op and maintain trough of 50% until risk of bleeding is over

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36
Q

factor 8: 1 u/kg increaes factor level by how much?

A

2%

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37
Q

factor 9: 1 u/kg raises factor by how much?

A

1%…however, for recombinant products taht raise factor level by 0.7/kg (eg: benefix)

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38
Q

is ddavp = vasopressin analog used in hemophilia b?

A

no, only HA

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39
Q

ddavp indication in hemophilia?

A

mucocutaneous bleeds, minor procedures (dental)

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40
Q

AEs of DDAVP?

A

hypotension, flushing (hyponatremia esp in <3 yrs)…first dose should be given in clinic

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41
Q

pros of f8 therapy?

A
  • immediate effect
  • level sustained..half life of 6-12 hours
  • highly effective
  • safe
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42
Q

cons of f8 therapy?

A
  • IV admin
  • availability
  • cost
  • inhibitor development
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43
Q

ddavp pros?

A
  • IN, IV, SC routes
  • works for mild bleeds
  • generally safe
  • relatively cheap
44
Q

ddavp cons?

A
  • levels don’t peak high enough for serious bleeds (jt, muscle, etc)
  • levels return to baseline in ~ 4hours
  • not all pts respond
  • some responsive pts have hypotension/flushing
45
Q

half life of f9 therapy?

A

12-18 hours

46
Q

issue with inhibitors in hemophilia b?

A

immune tolerance induction can –> anaphylaxis

47
Q

management for hemophilia A pt undergoing surgery

A

-ensure pt doesn’t have inhibitor
-replace factor to 100% immediately prior to procedure (give 50 u/kg)
-repeat bolus doses to maintain a trough >50% until bleeding risk has passed (50 iu/kg q12h, for example and adjust as needed…or continuous infusion of 3 IU/kg/hr to maintain trough>50%)
(major surgery: consider contin infusion)
-antifibrinolytics esp if mucous membrane surgery

48
Q

specifically for hemophilia B, surgical management?

A

120-140 u/kg of recombinant f9 (or 100 u/kg of plasma-derived f9) immediately before procedure to raise level to 100%…continue SAME dose q12-24h or can give continuous infusion of 6 iU/kg/hr to maintain trough >50%

49
Q

for dental procedures, how high do you want to correct for procedures? also give what?

A
  • 80-100%
  • antifibrinolytic (aminocaproic acid or TXA)
  • pressure gauze
  • consdier DDAVP
50
Q

managament of hematuria in hemophilia?

A
  • correct to 80-100%
  • IV fluids: 1.5-2x maintenance
  • antifibronlytic agents are CONTRAINDICATED (unless you know for sure that the source is the lower urinary tract= bladder/urethra…but for exam just say no)
  • don’t give ddavp (not reliable enough)
  • glucocorticoids? limited data
51
Q

pt bleeding more than expected with factor tx…2 causes?

A
  • insufficient dose

- inhibitor

52
Q

if suspect inhibitor, manage how?

A
  • test for inhibitor immediately
  • for bleeding, tx with bypassing agent
  • for pts on ppx, therpay should be suspended
53
Q

RFs for inhibitor?

A
  • severe hemophila
  • fam hx of inhibitors
  • large deletion >nonsense>inversion>missense
  • african american higher
  • less risk if plasma-derived
  • short burst of needing a lot of factor therapy
  • cumulative exposure days (usually first 20 exp days)
54
Q

test for inhibitors?

A

bethesda assay

55
Q

how does bethesda assay work?

A

patient plasma, mix with normal plasma so each are 50%. tehn, measure f8 activity…if the pt sample alone has less factor 8 activity than the control mixture, then you know there’s an inhibitor.

56
Q

1 bethesda unit=?

A

amount of inhibitor that results in 50% residual FVIII:C activity of a defined test mixture.

57
Q

transient inhibitors are __ ___ and only picked up __ ___

A

clinically insignficant; on surveillance

58
Q

what constitues a high titer inhibitor?

A

> 5 BU…must use bypassing agents to treat and/or prevent bleeding

59
Q

for low titer inhibitors, do what?

A

can be treated with factor replacemnt at higher than usual doses

60
Q

manage inhibitors with?

A

immune tolerance therapy= regular (usually daily or q2 days) infsuions or factor to educate the immune system to become tolerant…takes 6-18 months

61
Q

when in tolerance achieved iwth ITI?

A

pt has recover of >66% adn half life of >6 hours

62
Q

what if someone with low titre inhibitor bleeds?

A

give higher dose of factor…multiply the inhibitor titre by the IU/kg that you would normally give for that bleed…recheck inhibitor titre after to make sure not rising

63
Q

what if someone with high titre inhibitor bleeds?

A

give aPCC or rFVIIIa

64
Q

rf7a dose for bleed in hemophilia?

A

90-120 mcg/kg

65
Q

uses for rF7a in hemphilia other than acute bleed with inhibitor?

A

surgical and regular ppx (same as for aPCC)

66
Q

what does aPCC contain?

A

Fs 2,7,9,10

67
Q

aPCC dose. for bleeding in hemophilia with inhibitor? for ppx?

A

bleed: 50-100 IU/kg/dose q8-12 (max 200 iu/kg/day)
ppx: 75 iu/kg q2 days

68
Q

you ___ tx high titre patients with factor

A

CANNOT

69
Q

does ddavp work for inhbitor pts?

A

no!

70
Q

what’s the most common bleeding d/o?

A

VWD (1% by lab…real = 1 in 500)

71
Q

types of bleeding in vwd?

A 
epistaxis
easy bruising
oral bleeding
post-surg
menorrhagia
post-partum bleeding
72
Q

2 roles of vwf?

A

plt binding

carrier molec for f8

73
Q

vwf is an __ __ __; what increases it?

A

acute phase reactant; phgy stress, DDAVP, estogen, preg

74
Q

vwf circulates as a __ __ protein then binds to __ in ___ and will __. __ then stick to it via ___ ___. plts get activated and more __ gets __ ___

A

circular globular; collagen subendothelium; unfurl; plts; GP1b receptor. vwf; laid down

75
Q

describe vwd 2a

A

AD; multimerization defect with ABSENT large/intermediate size multimers

76
Q

describe vwd 2b

A

AD; gain of function mutaionin VWF; too adherent to plts, so large multimers are attached to plts and not circulating

77
Q

describe vwd 2m

A

AD; OPPOSITE of 2b…loss of function mutation and does NOT bind well to plts

78
Q

describe type 2n

A

AR; pateints are compound heterozygotes with type 1….loss of VWF binding function to F8

79
Q

inehrtiance of type 3 vwd?

A

AR…absence of vwf!

80
Q

Is PTT always high in vwd?

A

no, only if f8 is low

81
Q

is bleeding time, pfa-100 a good screening test for vwd?

A

no, not sensitive enough

82
Q

dx tests for vwd?

A

VWF antigen
ristocetin cofactor activity
FVIII
-also, may later do vWF multimer analysis (agarose gel)

83
Q

for which types of vwd is f8 normal ONLY

A

2m

84
Q

for which type of vwd is f8 absent?

A

3

85
Q

for which type of vwd is f8 LOW always?

A

2N

86
Q

for which types of vwd can f8 be normal or low?

A

1, 2a, 2b

87
Q

vwf antigen could be normal or low in which type of vwd?

A

2m

88
Q

vwf antigen absent in which type of vwd?

A

3

89
Q

ristocetin cofactor absent in which type of vwd?

A

3

90
Q

ristocetin cofactor VERY low in which two types of vwd?

A

2a, 2m

91
Q

in which type of vwd is there increased aggregation to low dose ristocetin?

A

2B

92
Q

in which type of vwd are multimers absent?

A

3

93
Q

in which type of vwd are large AND intermediate MW mutliemers decreased?

A

2a

94
Q

in which type of VWD are large MW multimers decreased only?

A

2b

95
Q

way to dx vwd type 2n?

A

vwd 2n-f8 binding assay

96
Q

blood types with lowest to highest vwf ag levels?

A

O<a></a>

97
Q

lower limit of normal for vwf ag for o blood group? ab?

A

35.6, 63.8…a=48…b=56.8

98
Q

tx for VWD?

A 
DDAVP
VWF cocnentrate
antifibrolytic
estrogen (increases vwf, f8)
topical antifibrinolutic
topical thrombin for oral or nose bleeds
cellulose or collagen embedded gauze
99
Q

ddavp works for which types of vwd?

A

type 1, and maybe (?) 2a

100
Q

major surgery vwd: give what?q

A

vwf replacmenet; antifibrionlytics

101
Q

afibrinogenmia can present how?

A

splenic rupture

preg loss

102
Q

f10 def can present how?

A

ICH

103
Q

f11 def typically bleed when? population?

A

after surg or trauma; Ashkenazi jewish population

104
Q

f13 def often presnts how?

A

umbilical stump bleed, ICH

105
Q

rare hemophilia inheritance?

A

AR for all

Haem/Onc (30 decks)

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