Haemophilia Flashcards
What type/pattern of bleeding occurs in haemophilia?
Platelet type
Does haemophilia casue splenic infarction?
Nope, it’s SCD that does that bro
What are the 2 types of haemophilia and which clotting factor is deficient in each one?
Haemophilia A -> F8 deficieincy
Haemophilia B -> F9 deficiency
Which sex are the only ones who can get haemophilia?
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)
What mode of inheiratnce is haemophilia?
X-linked recessive
Do both types of haemophilia have the same phenotype
Aye that’ll be true
What is the most common type of hameophilia?
Type A (F8 deficiency)
What is another name for Type B haemophila (F9 deficiency)?
Christmas disease
What are the clinical features of haemophilia?
Spontaneous bleeding
Haemathrosis
Muscle haematoma
Post-surgical bleeding
Compartment syndrome
What is haemathrosis?
Bleeding into a joint cavity
What symtpoms does haemathrosis cause?
Joint pain
Swelling
Difficulty weight-bearing
Which joints are most commonly affected by haemathrosis in haemophila?
Knee & ankle
Which muscle is most commonly gets a haematoma in hameophilia?
Iliopsoas
What causes compartment syndrome in haemophila?
Bleeding into muscle and nerve compartments causing pressure
Between which ages is haemophilia diagnosed?
6months -> 2 years
(early on bro)
What investigations are done for haemophilia?
APTT
PTT
X-ray
Gentetic testing
Why are X-rays undergone in haemophilia?
Check for damaged cartillage due to haemathrosis
What does APTT test for?
How long it takes for blood to clot
What does the severity of haemophilia depend on?
How much F8/F9 is still there
What % of F8/F9 is still avaiable for mild, moderate and severe haemophilia?
Mild -> 5-30%
Moderate -> 1-5%
Severe -> <1%
What is the aim of treating haemophilia?
Making it less severe
How is haemophilia treated?
Recombinant F8/F9
Desmopressin
Synovectomy
Joint arthoplasty
Splints
Phsyiotherapy
Cryoprecipitate (only for F8)
What type of haemphilia can be treated by cyroprecipitate?
F8
What is the function of desompressin?
Releases VWF from F8 cells
What are the treatments for haemoarthrosis?
Synovecomty
Joint arthoplasty
Splintage
Phsyiotherapy
What are the complications of haemophilia?
Chronic haemophilic arthorapthy
Inhibitory F8/F9 antibodies from recombinent factor F8/F9
Infections
Recombinant factor
Stroke
Synovitis
What is a complication of haemoarthrosis?
Chronic haemophilic arthropathy
What can be produced when heamophilia is being treated with recombinat factos F8/F9?
Inhibitory antibodies
What is haemophilia associated with?
Thrombocytoepnia
Leukaemia
VWD
(All cause of the bleeding)
What are some of the potential complications of recombinant factor F8/F9 for haemopihila?
Inhibitory antibody production
Renal failure
Acute thrombosis
Viral infections
What is the difference between haemophilia, VWF and Vit. K deficiency regarding…
A. APTT
B. PTT
A
Hameophilia -> increased APTT
VWD -> normal APTT
Vit. K deficieincy -> increased APTT
B
Hameophilia -> normal PTT
VWD -> normal PTT
Vit. K deficieincy -> increased APTT
Apart from acute thrombosis and inhibitory antibodies, what other complication can occur when recombinant F8/F9 is given for haemophilia?
Prions disease
