Haemophilia

Question 1

Define haemophilia

Answer 1

Bleeding disorder/diathesis which resulting from an inherited deficiency of a clotting factor

Haemophilia A: Deficiency in factor VIII (most common)
Haemophilia B: Deficiency in factor IX (Christmas disease)
Haemophilia C: Deficiency in factor XI (rare)
Von Willebrand disease

Question 2

Aetiology of haemophilia

Answer 2

X-linked recessive pattern of inheritance → boys/men are exclusively affected
Female carriers may have clotting factor derangement + bleeding symptoms due to lyonization (random inactivation of the X chromosome)

Question 3

Symptoms of haemophilia

Answer 3

Recurrent, severe or prolonged bleeding e.g. Excessive bleeding after surgery, dental procedures
Bleeding into muscles → Pain and swelling, reduced ROM, erythema + warmth (Bleeding into the iliopsoas may present as severe lower abdominal, low back, or upper thigh pain)
Mucocutaneous bleeding: epistaxis, bleeding from gums following minor dental procedures
Haemarthrosis (MC knee)
Intracranial bleeding → hypoactivity, irritability, seizures, headache, vomiting, focal neurological deficits
Excessive bruising
Fatigue
Menorrhagia and bleeding following surgical procedures or childbirth
Extensive cutaneous purpura (acquired)
Painful and distended abdomen

Question 4

What are the key questions to ask for haemophilia

Answer 4

Was there umbilical cord bleeding or bleeding when the Guthrie test was performed?
Was there haematoma formation after vitamin K injection or vaccinations?
Was there bleeding after circumcision?

Question 5

Investigations for haemophilia

Answer 5

FBC: Normal
Clotting: aPTT Prolonged, PT and bleeding time normal
Plasma FVIII/FIX assay: decreased
INR: normal
vWF: normal (Note: F8 is low in vWD as well as Haemophilia A)
LFTs: ?liver dysfunction

Plain x-ray: ?haemarthrosis
Head/neck CT/MRI: ?intracranial bleeding
Abdomen USS/CT: ?GI bleed

Question 6

Chronic management for haemophilia

Answer 6

MDT with haematology

Replacement therapy 2-3 times a week:
Haemophilia A- IV Recombinant Factor 8 concentrate
Haemophilia B- IV Recombinant Factor 9 concentrate

Desmopressin may be useful in MILD haemophilia A as it stimulates the endogenous release of Factor 8 and vWF.

Question 7

Management for acute bleeds in haemophilia

Answer 7

Offer factor concentrates
Offer Anti-fibrinolytics (e.g. aminocaproic acid, tranexamic acid)
Consider Bypassing agents- given if there are high levels of factor inhibitor
(These contain variable amounts of activated and precursor clotting factors which generate thrombin by bypassing the coagulation cascade)
Analgesia and physiotherapy may be required for deep bleeds into muscles and joints
Orthopaedic and pain team review may also be necessary

Question 8

What should be avoided in haemophilia

Answer 8

IM injections → GIVE SC Immunisations instead of IM Imms
Aspirin
NSAIDs - affect platelet function

Question 9

Complications of haemophilia

Answer 9

Joint and/or muscular damage- contractures, synovitis, progressive arthropathy, muscle atrophy
Bleeding or life-threatening haemorrhage
Compartment syndrome - bleeding into the muscle can cause this
Haematuria → blood clots → renal colic
Inhibitors- i.e. antibodies to FVIII or FIX
Transfusion-transmitted infections e.g. hep B
Difficulty in vascular access

Question 10

Prognosis for haemophilia

Answer 10

near-normal lifestyle and lifespan for most patients with haemophilia A and B.
Preservation of joint function may be achieved, even in patients with severe haemophilia A or B, with the use of prophylaxis