Haemophilia

Question 1

An 18 month old boy presents with a swollen right knee joint following a minimal impact fall whilst walking. He is an otherwise well boy and there has been no concern regarding his development. He is crying when you approach, refusing to move his right leg, but can be easily consoled by his mother. He is afebrile with the right knee being swollen and warm to touch with minimal active movement.

Answer 1

Impression
given the swollen knee following minimal impact in 18 month old, am concerned about a PDx of Haemarthrosis secondary to a congenital bleeding disorder such as Haemophilia A/B.

Of course, keep wide DDx and rule out serious causes including;
- MSK: fracture, other soft tissue injury
- infective: septic arthritis, cellulitis (not in keeping with presentation)
- NAI

Question 2

Haemophilia - History

Answer 2

History
- prev hx of bruising or significant bleeds, MOI,
- RISKS: male gender, fam history, ethnicity (mediterannean)
- Paediatric hx: growth charts (blue book), developmental milestones, obstetric hx and details of pregnancy, preterm?

Question 3

Haemophilia - Examination

Answer 3

Examination
- General appearance + vitals
Priority is factor replacement before more extensive examination with risk of causing further bleeding
- assess range of motion

• MSK examination
• haem exam: hepatosplenomegaly, lymph nodes

Question 4

Haemophilia - Investigations

Answer 4

Investigations
Key/diagnostic
- FBC + blood film, iron studies, specific factor levels (8, 9, 11), coags (prolonged aPTT), VWD assays
- genetic studies (clinical geneticist referral

Other
- CRP/ESR, cultures, FBC, coags,
- imaging: Knee US/X-ray

Question 5

Haemophilia - Management

Answer 5

Management
Supportive
- avoid NSAIDs
- Protection, rest, ice elevation
- appropriate analgesia
- parent education about condition, referral to clin geneticist for family planning etc.

Definitive
- admission under paeds haem
- immediate factor replacement
- advanced care plan for blood products (Esp if rurally-based)
- prophylactic factor replacement to prevent future bleeds, may need portacath insertion (2-3x weekly)
- regular monitoring for complications:

Definitive (aetiology-specific)
- acute fracture management
- empirical ABx for joint infection (IV fluclox, cephazolin PO), surgical washout and debridement