Trigger 3

• For information, none of them had any history of surgery, nor had any
of them been unwell with rash or joint pain – why are these
information important?
Differential diagnosis of rash with joint pain, or past surgery causing pallor

Acquired
- Vitamin k defficiency: mainly in neonates or early infancy
- Liver disease
- Thrombocytopenia
- Henoch Scholein Purpura

Inherited disorder
- Haemophillia A and Haemophillia B
- Von Willebrand disease
Haemophillia A and B
Haemophillia
• Commonest severe coagulation disorder
• Both have X-linked recessive inheritance
• Haemophillia A has FVIII deficiency with frequency of 1 to 5000 birth
• Haemophillia B has FIX deficiency with frequency of 1 to 30000 birth
Clinical features
• Presents towards end of 1st year of life when start to crawl or
walk(when they start to fall over)
• Bleeding episodes most frequent in joint and muscle
• 40% cases presented in neonatal period particularly in intracranial
haemorrhage, bleeding post- circumcision, prolonged oozing from
heel prick and venepuncture sites
• Spontaneous bleeding into join and muscles can lead to crippling
arthritis
Classification based on severity
Management
• Recombinant FVIII concentrate for haemophillia A and FIX
concentrate for Haemophillia B via intravenous infusion if theres
bleeding
• If recombinant product not available, highly purified, virally
inactivated plasma derived product should be used
• Quantity depends on the site and nature of the bleed
• Raising circulating level up to 30% of normal is sufficient for minor
bleed
• Major surgery or life threatening bleeds requires 100% and then
maintained at 30%-50% for up to 2 weeks to prevent secondary
haemorrhage
• Intramuscular injection, NSAIDS and aspirin are contraindicated in
patient with haemophillia

• Prophylatic FVIII is given to all children with severe haemophillia to

reduce chronic joint damage by raising baseline level above 2%. Begins
at the age of 2-3 and given 2-3 times per week.
• Desmopressin is used in mild haemophillia A which can stimulate
endogenous release of FVIII and von Willebrand factor. Does not work
in haemophillia B
Von Willebrand disease
Von Willebrand factor
• Faclitates platelets adhesion to damaged endothelium
• Act as a carrier protein for FVIII protecting it from degradation
Von Willebrand disease
• Quantitative or qualitative deficit in von willebrand factor.
• Results in defective formation of platelet plug
• Since vwf is also carrier of FVIII, patient also have deficit in FVIII
• Many different von Willebrand diseases due to many different
mutation in vWf gene
• Autosomal dominant
Clinical features

• Bruising
• Excessive prolong bleed after surgery
• Mucosal bleed such as epistaxis and menorrhagia
• Spontaneous soft tissue bleed such as haematoma or haemarthrosis
are not common
Management
• Desmopressin- Stimulate endogenous production of FVIII as well as
von Willebrand factor
• Should be used in caution in child under 1 year old as it can cause
hyponatremia due to water retention and may lead to seizures,
particularly after repeated dose or fluid intake is not strictly monitored

More severe von Willebrand disease cannot be treated with

desmopressin and requires plama derived FVIII concentrate
Henoch Scholein Purpura
HSP is the combination of some of following features

• Characteristic skin rash

• Arthralgia
• Periarticular edema
• Abdominal pain
• Glomerunonephritis
• Usually occurs between age 3-10
• Twice as common in boys
• Peaks during winter and is often preceded by upper respiratory tract
infection
• Unknown cause
• Inflammatory response with vasculitis
Clinical features
• Fever
• Rashes symmetrically distributed over buttocks, extensor surface of
arms and legs and ankles
• Rash initially urticarial, rapidly becoming maculopapular and purpuric
• Rash is the first clinical features in 50% and is cornerstone for
diagnosis
• Joint pain occurs in two third particularly on knee and ankle with
periarticular edema
• Long term damage to joint does not occur
• Colicky abdominal pain
• Gastrointestinal petechiae can cause haematemesis or melena
• Intussusception
• Renal involvement- haematuria
Management
• Supportive in most case
-ensuring adequate hydration
-monitor abdominal and renal complications
-treating minor symptoms of arthritis, edema, fever
-discontinue drugs suspected of playing causative role