Transcript The patient with haemophilia in family practice.

Haemophilia in
practice
An inherited, X-linked, lifelong bleeding
disorder affecting males almost exclusively
Factor VIII deficiency = Haemophilia A
Factor IX deficiency = Haemophilia B
History
First references in Babylonian Talmud to
rule that mothers who lost 2 baby boys
after circumcision must not have other
boys circumcised
Similar references from 10th century
1803 –Dr Conrad Otto - First modern
reference of families with boys who are
bleeders and mothers the carriers
1928 –Dr Schonlein – Term “Hamophilie” –
affinity to blood
Dr Conrad Otto
Others favoured Haemorraphilia –affinity
to bleed - out of favour since 1850
History
1908 -? Prothrombin deficiency
1916 –transfusion of human plasma
shortened clotting time
1930 –better understanding of the
pathogenesis
1947 –Two types of haemophilia A and B
1960’s – first factor concentrates
1980 – virally inactivated
1992 –recombinant factor concentrates
Currently – long –acting factor
concentrates
History
Royal disease
Queen Victoria - a carrier
Her son ,Prince Leopoldt died of a
brain bleed at 31
Daughters took Haemophilia to Spain,
Germany and Russia
Now known to be Haemophilia B
Prince Leopoldt
Statistics
2043 patients with Haemophilia A+B
known in South Africa = 38/million
World : 100/million
Number known in SA represents less
than 50% of the expected cases – need
to find the others.
Treatment centres in each Province
South African Haemophilia
Foundation
Mission includes:
- to provide fellowship for haemophilia
patients and families
-to promote the interests of the
patients
-to assist financially where possible
-to facilitate adequate treatment and
access to safe products
Diagnosis
< 50% of expected cases in SA have
been diagnosed
High index of suspicion needed
30% are new mutations and will have
no family history
Diagnosis
Infants
-umbilical stump
-circumcision
-soft tissue bleeds
Toddlers
Walking – now more joint bleeds
Children with unexplained bruises or
bleeds – suspicion of physical abuse –
must rule out a bleeding tendency
Diagnosis
Prolonged PTT with correction if mixed
with normal plasma
Factor assays –start with most
common
Confirm factor VIII or IX deficiency and
specific level
Diagnosis
Must be seen by specialist at
treatment centre to manage and guide
the care
Counselling for parents
Join Haemophilia foundation
Medic alert
Haemophilia foundation
Parents empowering parents workshop
Inhibitor patients
10-15% of patients with Haemophilia and 1-3% of patients
with Haemophilia B
Neutralising antibodies which limit the effectiveness of
normal factor concentrates
Must monitor every 3-6 months for inhibitors
Usually happens within first 50 exposure days after
starting factor infusions
Always check for inhibitors before any surgical
procedure
Bleeds and surgery in inhibitor patients must be
managed by or under the guidance of a treatment centre
Concentrates to use:
FEIBA
NOVO SEVEN
Factor concentrates
Factor VIII deficiency (Haemophilia A )
Plasma derived :
Haemosolvate (NBI)
Virally inactivated Factor VIII (WPBTS)
Recombinant:
Kogenate
Half life :8-12 hours
1IU/kg = 2% rise in factor level
Minor bleed 20-40IU/kg
Major bleed 40-50IU/kg
Factor concentrates
Factor IX deficiency (Haemophilia B)
Plasma derived
Haemosolvex (NBI)
Half life : 16-24 hours
1 IU/kg = 1% rise in factor level
Minor bleed : 20-40IU/kg
Major bleed : 60- 80IU/kg
Minor bleeds
Early joint bleeds
Muscle /soft tissue
Gums
Epistaxes
Painless haematuria
Must always treat to prevent complications
Consult treatment centre for advice if
needed
Major bleeds
Can cause death / deformity
Immediate factor replacement
Hospitalise
Must consult treatment centre an d
transfer if needed
Major bleeds
CNS
GIT
Neck / throat
Severe trauma
Hip / iliopsoas
Advanced joint or muscle bleed
Forearm compartment
Management of a joint bleed
Management of a joint bleed
Management of a joint bleed
Ideally prevent frequent bleeds with
prophylaxis
Treat bleeds early with factor infusion
Repeat infusions every 12 -24 hours as needed
(discuss with treatment centre)
Ice packs 5minutes on and 10 minutes off
No x-ray unless fracture is suspected
Do not aspirate the joint
Rest
-no weight bearing
-sling for arm
-posterior splint for leg (never circumferential
Muscle bleeds
Treat early
Treat till fully recovered
Risk of pseudotumour
if not managed
adequately
Management of an intracranial
bleed
Life-threatening (up to 50% mortality)
High index of suspicion with new
headaches or any head trauma
If suspected treat as per major bleed and
then do scan
May need neurosurgery
Must call treatment centre
Factor levels must be 80-100% for 7 days
(do regular levels)
Keep at 50% for haemopilia A and 30% for
haemophilia B for a further 2 weeks
Surgical Cover
Plan well in advance
Combined discussion between
haematologist, surgeon, anaesthetist
and treatment centre staff needed
Ensure that enough factor is available
in the hospital
If patient has a medical aid motivation
for elective surgery needs to be done
in advance
Surgical Cover
Check inhibitor level and FBC and
chemistry
Aim for factor level of 50-80% for minor
surgery and 80-100% for major surgery
Dose as per minor and major bleeds –give
factor 30minutes pre –op and then 6 hours
post –op – then 12 hourly for haemophilia
A and daily for haemophilia b
Where it is critical to keep levels at
80-100% -- check peak and trough levels
and adjust
Carriers
Carriers
Baseline factor level must be checked to
establish bleeding risk
Symptomatic carriers must wear a
Medicalert bracelet
Manage according to specific bleeding
problems
Must know factor levels before
procedures on a carrier
Factor levels increase in pregnancy –
measure at 28 and 34 weeks to determine
if cover for delivery is required
Conclusion