MBBS SAQ · Haematology
Haemophilia — diagnosis and management of an acute bleed
A final-prof / NEET-PG SAQ on an acute haemarthrosis in severe haemophilia A — immediate factor replacement (raise VIII to 50–80 percent for a joint, 100 percent for ICH/trauma), the RICE adjunct, analgesia (avoid IM/NSAIDs), screening for an inhibitor if bleeds escalate, and step-up to emicizumab prophylaxis.
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Question
A 5-year-old boy is brought to the emergency department with a swollen, painful right knee that developed spontaneously overnight. He has a known history of severe haemophilia A (factor VIII under 1 percent). On examination he is distressed, holding the right knee flexed; the joint is warm, swollen and tender with severely restricted movement. Vital signs are stable. His mother has been giving on-demand factor VIII but says the bleeds are increasing in frequency. Outline your assessment, immediate management, and longer-term plan. (10 marks)
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Diagnosis: acute haemarthrosis of the right knee in severe haemophilia A. Spontaneous joint bleeding in a child with severe haemophilia (factor VIII under 1 percent) is a classic target-joint bleed; the rising frequency on on-demand factor is a red flag for a developing inhibitor.[1]
Immediate management — factor first.[1]
- Give recombinant factor VIII immediately to raise the level to 50 to 80 percent for a joint bleed — do NOT wait for a level or imaging. The dose is weight-based (~50 IU/kg raises VIII by ~100 percent; ~25 IU/kg reaches ~50 percent).
- For ICH, major trauma or surgery, raise VIII to 100 percent and maintain troughs over 50 percent for at least 14 days.
Local and symptomatic measures.[1]
- RICE — Rest, Ice, Compression, Elevation of the knee.
- Analgesia with paracetamol / oral opioids; AVOID intramuscular injections, NSAIDs and antiplatelets (worsen bleeding; paracetamol is safe).
- Once pain is controlled and factor has been given, gentle mobilisation and physiotherapy to prevent stiffness and arthropathy. Aspiration is rarely needed and only after factor cover.
Investigate the escalating bleed — inhibitor screen.[1]
- A rising bleed rate on adequate factor VIII demands a Bethesda assay (neutralising antibodies). If a high-titre inhibitor is present, factor VIII will be ineffective — switch acute bleeds to bypassing agents (recombinant factor VIIa or FEIBA) and prophylaxis to emicizumab.
Longer-term plan.[1]
- Prophylaxis is the standard of care for severe haemophilia: subcutaneous emicizumab (bispecific antibody bridging IXa and X, mimicking VIIIa) is now first-line — it dramatically lowers annualised bleed rate and prevents arthropathy.
- Avoid the bleeds that cause haemophilic arthropathy (synovitis, cartilage loss, joint deformity) — the leading cause of long-term morbidity.
- Multidisciplinary care with a comprehensive haemophilia treatment centre, physiotherapy, genetic counselling for the family, and avoidance of IM injections / contact sports.
- Discuss gene therapy (valoctocogene roxaparvovec for haemophilia A) in adults as a potential functional cure.
Common errors
- Delaying factor for imaging or a level — in known haemophilia, treat the bleed clinically; a suspected ICH is treated BEFORE the CT.
- Using NSAIDs or IM injections — both worsen bleeding; give paracetamol and oral/IV routes.
- Ignoring the rising bleed frequency — escalating bleeds signal a new inhibitor; a Bethesda assay must be sent.
- Using factor VIII in a patient with an inhibitor — it will be neutralised; switch to bypassing agents (rFVIIa / FEIBA) and emicizumab prophylaxis.
- Forgetting prophylaxis — on-demand factor alone does not prevent arthropathy; emicizumab or factor prophylaxis is standard of care.
Examiner notes
- The exam rewards a structured sequence: recognise the bleed → factor FIRST (with the target percentage for joint versus life-threatening bleed) → adjuncts (RICE, analgesia, no NSAIDs/IM) → inhibitor screen given escalation → long-term prophylaxis (emicizumab) and prevention of arthropathy.
- State the factor target percentages (50–80 percent for joint/muscle, 100 percent for ICH/surgery) to score full marks.
- A strong candidate names emicizumab as modern first-line prophylaxis and mentions gene therapy as a potential cure.[1][2]
References2ShowHide
- [1]Berntorp E, Fischer K, Hart DP, et al. Haemophilia. Nature Reviews Disease Primers, 2021.PMID 34168126
- [2]Connell NT, Flood VH, Brignardello-Petersen R, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Advances, 2021.PMID 33570647