Haemophillia Flashcards
What is haemophilia
increased bleeding due to low clotting factors (affects secondary haemostasis => deep bleeding)
Types of haemophillia
Haemophilia A- factor 8 deficiency
Haemophilia B- factor 9 deficiency
Haemophilia C- factor 11 deficiency (rare)
Inheritance pattern of haemophilia
X-linked recessive
males symptomatic, females carriers
symptoms + signs of haemophilia
- swollen/painful/reduced ROM joints=> haemarthrosis (increased bleeding into joints/muscles)
- XS bruising
- Hx of recurrent/prolonged bleeding
- prolonged bleeding after heel prick
- females (carriers) => heavy periods/ severe bleeding after surgery
investigations for haemophilia
- prolonged APTT/ normal PT
- Factor 8,9,11 assay (diagnostic)
Exclude other causes of XS bleeding
- FBC (low platelets => DIC, leukaemia?,
- ALT/AST (liver problems => low clotting factors=> low PT/APTT)
- VWF assay (WVD => but primary haemostasis so superficial bleeding)
management for haemophilia
Acute
factor concentrates
RESUS + supportive care
+/- antifibrinolytics (not for haematuria)
Chronic
prophylaxis => recombinant/ plasma-derived factor infusions
emicizumab - monoclonal antibody for haemophilia A
some people have developed factor inhibitors => immune tolerance induction (inhibits factor inhibitors)
complications of haemophilia
- compartment syndrome (deep bleeding into muscles => swollen/pain/reduced ROM => pale/absent pulses)
- joint/muscle damage
- haemorrhages
- blood borne infections (rare)
prognosis of haemophilia
on prophylaxis => near enough normal lifespan + lives
how to treat compartment syndrome secondary to haemophilia
- factor concentrate replacement
2.monitor need for fasciotomy
how to prevent complications of haemophilia
prophylaxis treatment - regular recombinant/plasma-derived factor infusions or emicizumab for Haemophilia A
