An X-linked recessive, hereditary disorder in which abnormally prolonged bleeding recurs episodically at one or a few sites on each occasion
Aetiology
Haemophilia A - factor VIII deficiency, 5x more common than
Haemophilia B - factor IX deficiency
Pathophysiology
No abnormality of primary haemostasis
Bleeding from medium to large blood vessels, most commonly into joints
Mild, moderate and severely affected families depending on factor VIII/IX level involved
Clinical presentation
Patients with mild haemophilia are usually associated with bleeding only after injury or surgery - diagnosis in this group can often be delayed until quite late in life
Clinical features of severe haemophilia include:
Recurrent haemarthroses
Recurrent soft tissue bleeds
Bruising in toddlers
Prolonged bleeding after dental extractions, surgery, and invasive procedures
Investigations
Isolated prolonged APTT
Coagulation factor assays
Genetic testing
Management
The affected clotting factors can be replaced by intravenous infusions
Can either be prophylactically or in response to bleeding
A complication of this treatment is formation of antibodies against the clotting factor resulting in the treatment becoming ineffective
Acute episodes of bleeding or prevention of excessive bleeding during surgical procedures involve:
Infusions of the affected factor (VIII or IX)
Desmopressin to stimulate the release of von Willebrand Factor
Made with Bullet