HAEMOPHILIA

BLEEDING DISORDER
IN PAEDIATRICS

Anis Arifah
Mentor : Dr Lim
A is a 5 year old boy, presented to the casualty
with chief complaint of left elbow swelling for
one day after tripping over stairs and hitting
against the floor. His father noted bruises over
patients right palm after hitting the floor.

What are the further history that you would like

to elicit from the father?
History of current condition
Left elbow swelling for 1/7
Mechanism : fall yesterday after tripped over stairs
Fall with left elbow and right palm hit on the floor
Associated with pain
Swelling not increasing in size
Bruises over right palm
Restricted daily routine activity
No other bruises/pain in other parts of body
No LOC / vomiting / retrograde amnesia post fall
No head swelling or pain
 No nose bleed or oral cavity bleed
No hematuria, hematochezia
No history of insect bite
No fever
Tolerating orally as usual
Able to ambulate after fall as usual
Active as usual
No UTI symptom, PU regularly
BO normal
No loss of appetite
No change of behavior
Past medical or surgical history
U/L haemophilia A, diagnosed at 1 month old
History of frequent admissions for factor VIII transfusion
4 admissions last year. Last admission Jan 2016
Follow up under Pakar 3 Hospital Kulim

Family history
No family history of bleeding/ blood disorder
Non consanguineous marriage
Another sibling, younger brother with Hemophilia A

Immunization - up to date
Developmental - up to age
Weight : 24 kg on 95th percentile
Height : 107cm on 50th percentile
Primary survey
Airway
No secretion, no FB
Breathing
Effort: no wheezes , no stridor, RR 30, no recession
Efficacy: A/E equal, good breath sound
Effect: No cyanosis, SpO2 100% RA
Circulation
HR 90, BP 85/40
CRT <2 sec
Good pulse volume
Disability
Conscious but minimal painful
Pupils B/L 3mm reactive
No abnormal posture
Dxt 5.8mmol/L
Exposure
No rashes
Bruises seen over right palm
Temperature : 36.8 0C
Secondary survey
o/e: alert, conscious and well perfused. He was sitting comfortably
with a sling bandage of his left elbow. He looked well nourished. He
was not in severe pain.

Local examination
Swelling over the left elbow.
Loss of bony prominences.
On palpation, the joint was slightly warm and mildly tender to touch
Presence of moderate effusion in the left elbow joint.
Restricted joint movement
Flexion and extension were limited
Brachial and radial pulse palpable
Sensation intact
 No wrist drop or finger drop
Right elbow was normal
Noted bruise over the right palm 3X3 ROM normal
No other bruising or deformity noted

Systemic
CVS : DRNM
Lungs : clear, no chest recession, no flaring of alae nasi
Abdomen : soft, non tender, no hepatosplenomegaly, no
bruises noted
Lymph node not palpable
What are the differential diagnoses?
Differential diagnoses
Haemathrosis secondary to haemophilia
Septic arthritis
Juvenile rheumatoid arthritis
Bone or soft tissue malignancy
Fracture
Leukaemia
Blood investigation
Full blood count Specific factor assay :
- Hb : 13.5 - Factor VIII level 3.2 %
- Hct : 38
- TWC : 8
- Platelet : 220

Coagulation Profile
- PT : 10 s
- APTT : 70
- INR : 1
- PT ratio : 0.94
Specific factor assay :
To ascertain the specific factor that is deficient that is causing
the bleeding disorder.
Results: Factor VIII level: 3.2%
Interpretation: A has moderate haemophilia A due to his
Factor VIII level is in between 1-5%.
Further investigation
Hepatitis B surface antigen, anti HBS antibody
Hepatitis C antibody
HIV serology
Renal profile and LFT
Diagnosis of carrier status for genetic counselling
- Mother of a newly diagnosed son with haemophilia
- Female siblings of boys with haemophilia
- Daughter of a man with haemophilia
 Working diagnosis?

Left elbow haemarthroses

due to moderate Hemophilia A
Management
1)Factor VIII infusion 480 U BD x 3/7

Dose of factor replacement depends on type and severity

of bleed

Dose of factor calculated using formula

Units of factor VIII : (% rise required) x (weight in kg) x 0.5
Units of factor IX : (% rise required) x (weight in kg) x 1.4
Percentage of factor aimed

Infusion rate
Factor VIII given by slow IV push at rate not exceeding 100
units per minute in young children
Factor VIII is given every 8-12 hours
Factor IX is given every 12-24 hours
2) RICE
Rest
Ice
Compression
Elevation

3) Tranexamic acid
Reduces breakdown of blood clots and is effective for
treating and preventing recurrence of mouth bleeds and
epistaxis
Contraindicated for treatment of haematuria (form clots in
tubules may not recanalize)
Dose of tranexamic acid 25mg/kg/dose TDS x 5-7 days
4) Analgesia
Rapid pain relief in haemarthrosis once missing factor
concentrate is infused
Avoid intramuscular injection
Do not use aspirin or NSAIDS
Analgesic : Syrup paracetamol 360 mg stat and PRN

5) Desmopressin
Releases stored Factor VIII and vWF into the circulation.
Used in patients with mild haemophilia A
not recommended in young children ( < 3 years) due to
documented reports of hyponatraemia and seizures.
Relatively contraindicated in children with previous
seizure disorders.
Dose: 0.3 microgram/kg BD, give over 20 minutes
Management (cont.)
Early physiotherapy
Watch out for other bleeding tendency
Watch out for worsening of swelling
Advice to avoid contact sports
Dental care
Immunisation
Haemophilia Society
- Registered with a patient support group
- Medic-alert bracelet or chain
 Approach to bleeding disorders
Primary hemostasis
- Vasoconstriction
- Platelet plug formation

Secondary hemostasis
- Activation of clotting cascade
- Deposition and stabilization of fibrin

Tertiary hemostasis
- Dissolution of fibrin clot
- Dependant on plasminogen activator
Clinical presentation
The symptoms can vary depending on the specific type of
bleeding disorder. However, the main signs include:
unexplained and easy bruising
heavy menstrual bleeding
frequent nosebleeds
excessive bleeding from small cuts or an injury
bleeding into joints
 PT: Thromboplastin is added to test the extrinsic system. PT is expressed as a ratio
(INR) Normal range : 0.9-1.2. It tests for abnormalities in factor I, II, V, VII, X.
Prolonged: warfarin, Vit K deficiency, liver disease, DIC

APTT: Kaolin is added to test intrinsic system. Test for abnormalities I, II, V, VIII, IX,
X, XI, XII. Normal range 35-45sec.
Prolonged: heparin, hemophilia, DIC, liver disease, vWD

Thrombin time : thrombin is added to plasma to convert fibrinogen to fibrin.

Normal range: 10-15 sec.
Prolonged: heparin, DIC, dysfibrinogenemia

D-Dimers: fibrin degradation product, released from cross-linked fibrin during

fibrinolysis. This occurs during DIC, presence of DVT or PE. Also increase in
inflammation.

Bleeding time tests hemostasis. It is done by making 2 small incisions into the skin
of the forearm. Normal time >10min. Rarely done as it is operator dependant.
Raised in vWD and platelet disorder
 Condition Prothrombin time Partial thromboplast Bleeding time Platelet count
in time

Vitamin K deficiency Normal or mildly

Prolonged Unaffected Unaffected
or warfarin prolonged

Disseminated intravas Prolonged Prolonged Prolonged Decreased

cular coagulation

Prolonged or
Von Willebrand disea Unaffected Prolonged Unaffected
unaffected
se
Hemophilia Unaffected Prolonged Unaffected Unaffected
Aspirin Unaffected Unaffected Prolonged Unaffected
Thrombocytopenia Unaffected Unaffected Prolonged Decreased
Liver failure, early Prolonged Unaffected Unaffected Unaffected
Liver failure, end- Prolonged Prolonged Prolonged Decreased
stage
Uremia Unaffected Unaffected Prolonged Unaffected

Congenital afibrinog Prolonged Prolonged Prolonged Unaffected

enemia
Factor V deficiency Prolonged Prolonged Unaffected Unaffected
Factor X deficiency as
seen in Prolonged Prolonged Unaffected Unaffected
amyloid purpura

Glanzmann's thromba Unaffected Unaffected Prolonged Unaffected

sthenia
Decreased or
Bernard-Soulier synd Unaffected Unaffected Prolonged unaffected
rome
Factor XII deficiency Unaffected Prolonged Unaffected Unaffected
C1INH deficiency Unaffected Shortened Unaffected Unaffected
 Haemophilia
A group of blood disorder in which there is a defect in
the clotting mechanism

X-linked recessive inheritance, however in 30% there is

no family history as it is a spontaneous new mutation

Types of hemophilia :
Hemophilia A : deficiency of factor VIII ( 85% )
Hemophilia B : deficiency of factor IX ( 15% )
Hemophilia C : deficiency of factor XI (not common)
Classification and Clinical Manifestation
Complications
Joint destruction
Recurrent haemarthroses eventually destroy joint causing osteoarthritis and
deformity

Acquisition of viruses
Hep B, Hep C, HIV

Inhibitors
Antibodies directed against exogenous FVIII or FIX neutralizing the clotting
activity
15-25% in haemophilia A and 1-3% in haemophilia B
Usually after 10-20 exposure days.
Suspected when there is lack of response to replacement therapy despite high
doses.
Treatment - bypassing the deficient clotting factor : recombinant activated
factor VII (novoseven or rfVIIa) and FEIBA.
Treatment
Prophylactic to prevent arthropathy and ensure the best quality
of life
Dosage of prophylaxis is usually 25-35 U/kg of factor VIII
concentrate, given every other day or 3 times a week
For factor IX, the dosage is 40-60 U/kg, given every 2-3 days.
However this form of management is costly and requires
central venous access

On demand treatment when clotting factors are inadequate

Replacing the missing factor : Factor VIII concentrates and
Factor IX concentrate.
FFP and CRYOPRECIPITATE should not be used as there is a
high risk of viral transmission.
Specific condition and
management
Intracranial hemorrhage
Surgery
Iliopsoas bleed
Haematuria
Haemarthroses
 Intracranial hemorrhage
Give factor replacement before suspected bleed is
confirmed by CT scan
Aim to increase factor VIII level to 100
For haemophilia B if monoclonal factor IX is used a level of
80% is adequate and if prothrombin complex concentrate
(PCC) is used 50% level is recommended
Urgent CT scan : if confirm ICH, maintain factor level 80-
100% for 1-7 days and 50% for 8-21 days.
Pre treatment factor assay level and inhibitor level before
starting treatment and to repeat after 3-5 days of
treatment
Follow up CT scan after 2/52
 Surgery
Coag profile, pre factor assay level and inhibitor level, GXM if required
Dose 30 min before operation, infuse patient with appropriate factors
- Factor VIII 80-100%
- Factor IX 70%
- PCC 50%
Check post transfusion specific factor level 30 min later if necessary or
after surgery to ensure correct factor level is achieved.
Clotting factor level should be maintained above 50% during the
operation and 24 hours after surgery
Maintain adequate factor levels
- D 1-3 60-80%
- D 4-7 40-60%
- D 8-14 30-50%
Repeat factor assay and check inhibitor level on D3 to ensure adequate
levels. Post operatively a minimum of 10-14 days replacement therapy is
recommended
 Iliopsoas bleed
Symptoms : pain/discomfort in the lower abdomen/upper
thighs
Signs : hip flexed, internally rotated, unable to extend
Danger : hypovolemia, large volume of blood may be lost in
the retroperitoneal space
Management :
- Factor replacement : 50 U/kg stat, followed by 25 U/kg bd till
asymptomatic, then 20 U/kg every other day for 10-14 days.
- US/CT scan
- Physiotherapy after pain subside
- Repeat US to assess progress
 Haematuria
Management :
- Bed rest
- Hydration (1.5 maintenance)
- Monitor for first 24 hours : UFEME and Urine C&S
- If bleeding persists for >24 hours, start factor concentrate
infusion
- Perform US KUB
- DO NOT give tranexamic acid because this may cause
formation of clots in the tubules which may not recanalize.
 Haemarthroses
Most spontaneous haemarthroses respond to single infusion
of factor concentrate. Aim for a level of 30-40%.
If swelling or spasm is present, treatment to level of 50% is
required and infusion may have to be repeated at 12-24
hours interval until pain subsides.
Minor haemarthroses may not require immobilization, elastic
bandage or slings and ice may help in pain relief.
Severe haemarthroses
- splint in position of comfort
- rest
- early physiotherapy
Thank you!