Haemophilia Flashcards

1
Q

What type/pattern of bleeding occurs in haemophilia?

A

Platelet type

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2
Q

Does haemophilia casue splenic infarction?

A

Nope, it’s SCD that does that bro

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3
Q

What are the 2 types of haemophilia and which clotting factor is deficient in each one?

A

Haemophilia A -> F8 deficieincy

Haemophilia B -> F9 deficiency

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4
Q

Which sex are the only ones who can get haemophilia?

A

Boys

Cause it’s X-linked recessive, and boys only have one X chromosome so it’s always affected

(X-linked conditions need to be dominant for them to affect girls too)

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5
Q

What mode of inheiratnce is haemophilia?

A

X-linked recessive

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6
Q

Do both types of haemophilia have the same phenotype

A

Aye that’ll be true

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7
Q

What is the most common type of hameophilia?

A

Type A (F8 deficiency)

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8
Q

What is another name for Type B haemophila (F9 deficiency)?

A

Christmas disease

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9
Q

What are the clinical features of haemophilia?

A

Spontaneous bleeding

Haemathrosis

Muscle haematoma

Post-surgical bleeding

Compartment syndrome

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10
Q

What is haemathrosis?

A

Bleeding into a joint cavity

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11
Q

What symtpoms does haemathrosis cause?

A

Joint pain

Swelling

Difficulty weight-bearing

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12
Q

Which joints are most commonly affected by haemathrosis in haemophila?

A

Knee & ankle

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13
Q

Which muscle is most commonly gets a haematoma in hameophilia?

A

Iliopsoas

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14
Q

What causes compartment syndrome in haemophila?

A

Bleeding into muscle and nerve compartments causing pressure

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15
Q

Between which ages is haemophilia diagnosed?

A

6months -> 2 years

(early on bro)

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16
Q

What investigations are done for haemophilia?

A

APTT

PTT

X-ray

Gentetic testing

17
Q

Why are X-rays undergone in haemophilia?

A

Check for damaged cartillage due to haemathrosis

18
Q

What does APTT test for?

A

How long it takes for blood to clot

19
Q

What does the severity of haemophilia depend on?

A

How much F8/F9 is still there

20
Q

What % of F8/F9 is still avaiable for mild, moderate and severe haemophilia?

A

Mild -> 5-30%

Moderate -> 1-5%

Severe -> <1%

21
Q

What is the aim of treating haemophilia?

A

Making it less severe

22
Q

How is haemophilia treated?

A

Recombinant F8/F9

Desmopressin

Synovectomy

Joint arthoplasty

Splints

Phsyiotherapy

Cryoprecipitate (only for F8)

23
Q

What type of haemphilia can be treated by cyroprecipitate?

A

F8

24
Q

What is the function of desompressin?

A

Releases VWF from F8 cells

25
Q

What are the treatments for haemoarthrosis?

A

Synovecomty

Joint arthoplasty

Splintage

Phsyiotherapy

26
Q

What are the complications of haemophilia?

A

Chronic haemophilic arthorapthy

Inhibitory F8/F9 antibodies from recombinent factor F8/F9

Infections

Recombinant factor

Stroke

Synovitis

27
Q

What is a complication of haemoarthrosis?

A

Chronic haemophilic arthropathy

28
Q

What can be produced when heamophilia is being treated with recombinat factos F8/F9?

A

Inhibitory antibodies

29
Q

What is haemophilia associated with?

A

Thrombocytoepnia

Leukaemia

VWD

(All cause of the bleeding)

30
Q

What are some of the potential complications of recombinant factor F8/F9 for haemopihila?

A

Inhibitory antibody production

Renal failure

Acute thrombosis

Viral infections

31
Q

What is the difference between haemophilia, VWF and Vit. K deficiency regarding…

A. APTT

B. PTT

A

A

Hameophilia -> increased APTT

VWD -> normal APTT

Vit. K deficieincy -> increased APTT

B

Hameophilia -> normal PTT

VWD -> normal PTT

Vit. K deficieincy -> increased APTT

32
Q

Apart from acute thrombosis and inhibitory antibodies, what other complication can occur when recombinant F8/F9 is given for haemophilia?

A

Prions disease