Reccurent swollen tender joints (1356/1700)

A boy with a hx of recurrent swollen tender joints on both knees and elbows and not able to
participate in sports. What is the inv of choice to dx?
a. RF/ASO titre
b. Clotting factor
c. ESR

































answer: B (hemophilia)

He cannot participate in sports as minor head injury can cause a major intracranial bleed! N.b. Juvenile idiopathic arthritis is mostly a clinical diagnosis and neither of RF/ASP/ESR would make a definitive diagnosis, also rheumatic fever only shows arthropathy in active disease and it is a transient migrating arthropathy.

Haemophilia A is a congenital bleeding disorder due to defective production
of factor VIII (FVIII), with X-linked recessive inheritance.

Presentation
• Rare in the neonate: severe forms present in infancy with intracranial
bleeds or after circumcision: most present as they start to mobilize.
• Easy bruising. In younger children often get pea-sized lumpy bruises.
• Bleeding into joints (haemarthroses): knees > ankles > elbows > hips
> wrists. The joint is painful, swollen, tender, warm, with severe
limitation of movement, +/– unable to weight bear. Uncontrolled
recurrent bleeding can lead to degenerative joint disease.
• IM bleeds: can be difficult to differentiate between muscle strain and
bleed. May lead to compartment syndrome, nerve compression, or
ischaemic contracture.
• Intracranial bleeds: may be extradural, subdural, or intracerebral.
Usually follows minor head trauma. All patients should seek medical
attention, and those with severe disease need immediate FVIII.

Investigations
• APTT increased and FVIII decreased (PT, von Willebrand factor and PFA all normal).
• Perform cranial CT scan if any suspicion of intracranial bleed.
• US scans are useful for possible joint bleeds and muscle haematomas.

Management
• Prophylaxis: in severe disease, most require prophylaxis with alternate
day IV FVIII concentrates to prevent spontaneous bleeds. Children
with moderate or mild disease do not require regular prophylaxis.

• Major bleeds: treat with recombinant FVIII product except in those
with FVIII inhibitors. The dose depends on bleeding site, child’s weight
and serum half life of FVIII (usually 710hr). In those with severe disease
on prophylactic therapy, regular screens are made to assess exactly
how much FVIII is required to treat a joint or a major bleed. The dose
for joint bleed aims to get FVIII to 40–50%, whilst for head injury to
100%, i.e. treat intracranial bleeds with twice the dose used for a joint
bleed.