Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Haemotology > Inherited bleeding disorders eg haemophilia, VWD, factor deficienciesers > Flashcards

Inherited bleeding disorders eg haemophilia, VWD, factor deficienciesers Flashcards

1
Q

Presentations perinatal if inherited bleeding disorder

A

Prolonged umbilical stump bleed, subdural haematoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Childhood presentation inherited blood disorder

A

NAI easy brusing
Polonged APTT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Adulthood inherited bleeding disorder presentation

A

Menorrhagia, bleeding tendency, prolonged APTT eg IDA, trigger

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Coagulation factor disorders

A

Haemophilia A/B
VWD
Rare eg FVII, FVIII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Bleeding questions to ask in hisotry - ISTH BAT

A

Epistaxis spontaneously
Large bleeds from small wounds
Gum bleeding
Spontaneous brusiig, size
Bleeding after dental work
Heavy periods
PPI
Musc;e haematoma, haemoarthrosis
intraranial bleeds
Post partm haemorrhage
GI bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Score for bleeding

A

ISTH BAT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What score in ISTH BAT investigate in

A

<3 in children
<4 in adult males
<6 in adult females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Investiagtions for inherited bleeding disorders

A

PT
APTT
Fibrinogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

If abnormal clotting screen with no bleeding history

A

Factor XII deficiency - confirm with factor assays and reassure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What factor assays do if prolonged PT

A

Factor VII assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What factor assays do if prolonged APTT

A

Factor XII, XI, IX, VIII (12,11,9,8)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What test for if FH od bleeding eg heacy periods

A

Sus VWD - vWF
Factor VIII - often low as absence of vWF reduces hafl life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How test for vWF

A

Antigen test - how much
aCTIVITY TEST - how well vWF functions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Blood results in haemophilai

A

Prolonged APTT - intrinsic. Nomral PT
Decreased VIII (A), IX (B)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Inheritance of haemophilia

A

X linked
Maternal lines but only sons affected
1 in 3 spontaneous mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Clnical features haemophilia

A

Mostly male
Female if x inactive or compund heterozygotes
Joint bleeding #Porlonged wound and surgical bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is severe haemophilia A

A

<1% factor VIII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Features of severe haemophilia A

A

Early onset - befroe 2 years old
Spontaneous haemarthroses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Moderate haemophilia A factor VIII levels and presentation

A

1-5%
Late onset
Bleed w trauma or surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Mild haemophilia factor VIII levels and features

A

Few or no bleeds, undetected until later in life
<5% factor VIII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Treating haemophilia

A

Replace joints if damaged, treat bleeds
Education and self care
Regular prophylaxis
Gene therapy cures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Where is vWF made

A

Endothelial cells and megakaryocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Inheritance of VWD

A

Autosomal dominant
Midl bleeding disorder

24
Q

Clinical features VWD

A

Mucosal bleeding - epistaxis, menorrhagia
GI bleeds
PP bleeding
Post surgical bleedings

25
Q

Treatment for VWD

A

Avoid aspirin, anti-inflam or anticoagulant meds
Avoid activities risky for bleeding

26
Q

vWF role

A

Mediating platelet adhesion to sites of damaged vascular endothelium
As a bridging molecule for platelet aggregation.
Indirectly it acts as a carrier for FVIII in its inactive form.
Factor VIII works by interacting with factor IX and the intrinsic pathway.

27
Q

First line in vWD

A

Desmopressin

28
Q

What should be tested before demopressin commences

A

A trial should be carried out with VWF antigen, activity and FVIII measured at baseline, 30-60 mins and 4-6 h

29
Q

Treatment of bleeding episodes in vWD

A

1st line - tranexamic acid and desmopressin
2nd - VWF-FVIII concentrate

30
Q

What is type I VWD

A

Normal VWF but low levels, also may have low FVIII
AD inheritance, most common form, mild mucatneous unless severe
Menorrhagie, epistacis and brusing
Non O blood gorups have higher VWF levels than O

31
Q

What is type 2 VWD incl A,B,M,N subtypes

A

Nomral levels VWF but functionally defective
A - VWF multimers not right size
2B - not right size and too active -> shortage of VWF + platelets
2M - low or absent bindin to platelet receptor.
2N - VWF reduced affinity for factor VIII -> reduced levels.

32
Q

Which VWD types are autosomal recessive

A

Type 2N
Type 3 (complete deficiency of VWF)

33
Q

Casues of acquire VW syndrome - AVWS

A

> 40 years no prior bleeding history
Lymphoproliferative disease
Myeloproliferative disease
Malignancy - aberrant binding VWF tumour cells
Shear induced VWF conformational changes eg aortic stenosis, ventricular septal defect
AI conditions

34
Q

Type 3 features clinical VWD

A

Haemoarthrosis
GI bleeding

35
Q

What levels of VWD antigen are diagnostic w bleeding history

A

<0.3
Undetectable = type 3

36
Q

VWF activity levels -> which tyoe

A

> 0.6 - type I
<0.6 - type II
Measures risocetintin cofacotr and collagen binding against VWF antigen

37
Q

Genes responsible for haeophilia

A

F8 fro A, F9 for B

38
Q

What is haemophila C

A

Rosentahl syndrome
Autosmal recessive lack of factor XI
Ashkenazi jeiwsh popylations

39
Q

What do haemarthroses present with

A

Painful, erythemaotus, stiff and swollen joint in knees, ankles,elbows

40
Q

What need to beware of w haemotomas

A

Compartment syndrome

41
Q

Should haemophilia cause correction in mixing studies

A

Yes
Specific clotting factor deficiency

APTT will not correct in acquired haemophilia due to clotting factor antibodies.

42
Q

Imaging for bleeds

A

Ultrasound: Useful diagnostic tool for localising site of haemorrhage
Joint X-ray: Can assess ongoing localised damage.
CT/MRI: Excellent at identifying haematomas and haemorrhages such as intracranial bleeding or an iliopsoas haematoma

43
Q

What type is factor inhibitors more likely in

A

Haemophiilia A

44
Q

What disease is given prophylaxis coagulation factors

A

Severe haemophilia

45
Q

GOal of prophylaxis with coag factors

A

30-50% of normal

46
Q

How give prophylaxis in haemophilia

A

1-3 infusions a weekminimum of 45 weeks a year

47
Q

ADjunctive treatment in haemphilia

A

Fibrinolytic inhibitors - alpha mainocarprioc acid, tranexamic acid
Fibrin glue
Topical thrombin

48
Q

Complications of haemophilia

A

Compartment syndrome - haematomas
Arthropathy - haemarthois
Severe haemorrhage - IC, GI
Inhibitor formation requiring higher doses of factor replacement + risk of anaphylaxis

49
Q

Would mixed studies correct APTT in haemophilia

A

Yes - factor depletion corrected
Not in acquired as factor antibodies present

50
Q

Which haemophilia are facotr antibodies more common in

A

A
Require higher doses of coag factors

51
Q

Treatment frequency for haemophilia

A

1-3 transfusions a week
30-50% CGF goal

52
Q

What meds avoid in haemophilia

A

NSAIDs and aspirins - increase bleed risk

53
Q

Complications of haemophilia

A

Compartment syndrome form haematomas muscle
Arthropathy from haemarthrosis
Sev haemorrhage - GI, intracranial

54
Q

What is most common nherited bleed disorder

A

Von willebrands

55
Q
A

Haemotology (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions