Hemophilia & Other Hereditary Bleeding Disorders: Djajadiman Gatot Novie Amelia C

HEMOPHILIA & OTHER
HEREDITARY BLEEDING DISORDERS
Djajadiman Gatot
Novie Amelia C
Hematology-Oncology Division
Department of Child Health
Faculty of Medicine University of Indonesia/
Dr Cipto Mangunkusumo Hospital
Hereditary Bleeding Disorders
 Hereditary clotting factor deficiencies
 Single clotting factor deficiency
 Factor I, II, V, VII, X, XI, XIII deficiency (autosomal)
 Factor VIII/IX deficiency (X-linked recessive) XII
 Factor deficiency (non-bleeding disorder)
 Multiple clotting factor deficiencies

F V + F VIII (autosomal recessive)
 Vitamin K dependent factors (F II, VII, IX, X)
 Von Willebrand Disease
 Inherited platelet disorders

Global Survey 2007
WFH,2008
Hemostasis system
Primary
hemostasis
Secondary
hemostasis
Fibrinolytic
system
http://accessmedicine.net/search/searchAMResultImg.aspx?rootterm=hemostatic+function&rootID=11219&searchType=1
Clinical distinctions
Finding Disorders of Coagulation Disorders of Platelets or Vessel
Petechiae Rare Characteristic
Deep dissecting hematoma Characteristic Rare
Superficial ecchymoses Common, usually large & Characteristic, usually small &
solitary multiple
Hemarthrosis Characteristic Rare
Delayed bleeding Common Rare
Bleeding from superficial cuts Minimal Persistent, often profuse
& scratches
Sex of patient 80-90% male Relatively more common in
females
Positive family history Common Rare
Wintrobe’s Clinical Hematology, 11th ed, 2004

Hemophilia
Definition
 Hemophilias comprise a category of hereditary

bleeding disorders resulting from congenital
deficiencies of proteins involving in blood coagulation
 Sex-linked recessive disorder
 Hemophilia A : factor VIII (antihemophilic factor) deficiency

 Hemophilia B : factor IX (Christmas factor)deficiency
 Autosomal recessive : Hemophilia C

F XI deficiency  RARE
 Most commonly in Jewish of Eastern Europe ancestry
Hemostasis & Thrombosis : Basic Principals & Clinical Practice. 4th ed, 2006
Epidemiology
 Hemophilia A
 80-85% of hemophilia cases
 1 in 5000 male births
 Hemophilia B
1 in 30,000 male births
Pattern of inheritance
Hemophilia in Pictures. WFH, 2005

Degrees of Severity

Clinical manifestation
 Bleeding:
• usually deep (hematoma, hemarthrosis)
• spontaneous or following mild trauma
 Type:
 hemarthrosis
 hematoma
 intracranial hemorrhage
 hematuria
 epistaxis
 bleeding of the frenulum (baby)
Clinical Classification*
Severe Moderate Mild
Coagulation factor level < 1% 1 - 5% > 5%

Bleeding spontan mild moderat
eous trauma e
Episodes trauma
1-2 x/wk 1 x/mo
Hemarthrosis
none
common occasion
ally rare
* Hemophilia A or B
Clinical manifestation
3%
30%
2%
3%
45%
15%
2%
Hemarthrosis Muscle bleed Hemophilia in Pictures. WFH, 2005
Sites of Bleeding
Guidelines for the Management of Hemophilia, WFH 2005

Hemarthrosis

Diagnosis
 Presenting history
 Boy
 Easy bruising in early childhood

 Spontaneous bleeding (particularly into the joints & soft
tissue)
 Excessive bleeding following trauma or surgery
 History of abnormal bleeding in family
 Physical examination
 Sites & type of bleeding

Screening Tests

First aid
REST: The arm or leg should rest on pillows or be
put in a sling or bandage. The person should not
move the bleeding joint or walk on it.
ICE: Wrap an ice pack in a damp towel and put it
over the bleed. After 5 minutes, remove the ice for at
least 10 minutes. Keep alternating: 5 minutes on, 10
minutes off, for as long as the joint feels hot. This may
help decrease pain and limit bleeding.
COMPRESSION: Joints can be wrapped in a tensor
bandage or elastic stocking. This gentle pressure may
help to limit bleeding and support the joint. Use
compression carefully with muscle bleeds if a nerve
injury is suspected.
ELEVATION: Raise the area that is bleeding above
the level of the heart. This may slow blood loss by
lowering pressure in the area.
Blood Component Replacement Therapy
factor-VIII factor-IX
(unit/ml) (unit/ml) (ml)
fresh-frozen plasma ~ 0,5 ~ 0,6 200
cryoprecipitate ~ 4,0 - 20
factor-VIII concentrate 25 - 100 - 10
factor-IX concentrate - 25 - 35 20
 source of F-VIII: - monoclonal antibody purified;

- intermediate- and high-purity;
- recombinant
Replacement therapy
Dose calculation :
F VIII (unit): (every 12 hours)

BW (kg) x % (plasma target –patient F VIII ) x 0,5
F IX (unit): (every 24 hours)

BW (kg) x % (plasma target –patient F IX )
Hemofilia A Hemofilia B
Bleeding Plasma Target (%) Duration (day) Plasma Target (%) Duration
(day)
Joint 10-20 1-2* 10-20 1-2*
Muscle 10-20 2-3* 10-20 2-3*
(excl.iliopsoas)
Iliopsoas
-initial 20-40 1-2 15-30 1-2
-maintenance 10-20 3-5# 10-20 3-5#
CNS
-initial 50-80 1-3 50-80 1-3
-maintenance 30-50 4-7 30-50 4-7
20-40 8-14^ 20-40 8-14^
Resp. tract
-initial 30-50 1-3 30-50 1-3
-maintenance 10-20 4-7 10-20 4-7
Gastrointestinal
-initial 30-50 1-3 30-50 1-3
-maintenance 10-20 4-7 10-20 4-7
Ginjal 20-40 3-5 15-30 3-5
Deep laceration 20-40 5-7 15-30 5-7
Operasi mayor
-pre-op 60-80 1-3 50-70 1-3
-post-op 30-40 4-6 30-40 4-6
20-30 7-14 20-30 7-14
10-20 10-20
Tooth extraction
-before procedure 50 1-3* 40 1-3*
-after procedure 20-40 20-30
What are the Long-Term Effects of Joint Bleeds?
•Repeated bleeding into a joint causes the

synovium (lining) to swell and bleed very
easily.
•Some blood remains in the joint after
each bleed. The synovium stops producing
the slippery, oily fluid that helps the joint
move.
•This damages the smooth cartilage that
covers the ends of the bones. The joint
becomes stiff, painful to move, and
unstable. It becomes more unstable as
muscles around the joint weaken.
•With time, most of the cartilage breaks
down and some bone wears away.
Sometimes the joint cannot move at all.
The whole process is called hemophilic
arthritis. Hemophilia in Pictures. WFH, 2005
Comprehensive Care
To be governed through multidiscipline

approach involving experts in the field of:
 hematology  occupational therapy

 orthopedics  vocational therapy
 infectious disease  psychology
 nutrition  nursing
 dentistry  genetics
Thank you
Von Willebrand Disease
Introduction
 VWD is the most common inherited bleeding
disorder
 Mucocutaneous bleeding
 Estimated prevalence varied from 1% of general
population to 125 cases per million population

 All ethnic background; severe disease have been
documented in Israel, Sweden and Iran

Classification
Type of VWD Definition
Type 1 (≈80%) Partial quantitative deficiency of VWF
Type 2 (≈20%) Qualitative defects of VWF
2A Qualitative variants with decreased platelet function (high molecular
weight multimer)
2B Qualitative variants with increased binding affinity for platelet
glycoprotein 1b
2M Qualitative variants with decreased platelet function (normal
molecular weight multimer)
2N Qualitative variants with reduced binding of F VIII
Type 3 (<1%) Complete absence of VWF
Diagnosis
 Focused on 3 factors :
 Personal history of excessive mucocutaneous bleeding
 Evidence of family history of the condition
 Laboratory demonstration of VWF deficiency :

 CBC
 Platelet aggregation test
 APTT
 Factor
VIII:C
 VWF:Ag
 VWF:Rco
 VWF multimers
Clinical definition of a significant bleeding trait
 Recurrent nosebleeds requiring medical treatment (packing,
cautery, etc) or leading to anemia
 Oral cavity bleeding/bleeding from skin laceration
lasting for at least 1 hour, restarting over the next 7 days or
requiring medical treatment
 Prolonged bleeding associated with or following dental
extraction/other oral surgery
 Menorrhagia requiring medical attention or leading to anemia
 Spontaneous GI bleeding requiring medical attention or
leading to anemia, unexplained by local causes
 Prolonged bleeding from other skin/mucous membrane
surfaces requiring medical treatment
Pediatric Hematology, 3rd ed, 2006.
Treatment
 Desmopressin (DDAVP)
 Blood component therapy :
 Cryoprecipitate
 Plasmaderived F VIII concentrate (intermediate purity)

 Recombinant VWF concentrate
 Adjunctive therapy :
 Antifibrinolytic agents : tranexamic acid, aminocaproic
acid
 Estrogen (reducing menstrual bleeding)

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HEMOPHILIA & OTHER

HEREDITARY BLEEDING DISORDERS

 Multiple clotting factor deficiencies

 Von Willebrand Disease

 Inherited platelet disorders

Wintrobe’s Clinical Hematology, 11th ed, 2004

 Hemophilias comprise a category of hereditary

 Hemophilia A : factor VIII (antihemophilic factor) deficiency

 Autosomal recessive : Hemophilia C

Hemophilia in Pictures. WFH, 2005

Hemophilia in Pictures. WFH, 2005

Severe Moderate Mild

Coagulation factor level < 1% 1 - 5% > 5%

Guidelines for the Management of Hemophilia, WFH 2005

Hemophilia in Pictures. WFH, 2005

 Easy bruising in early childhood

 History of abnormal bleeding in family

Guidelines for the Management of Hemophilia, WFH 2005

Guidelines for the Management of Hemophilia, WFH 2005

 source of F-VIII: - monoclonal antibody purified;

F VIII (unit): (every 12 hours)

F IX (unit): (every 24 hours)

•Repeated bleeding into a joint causes the

To be governed through multidiscipline

 hematology  occupational therapy

 Estimated prevalence varied from 1% of general

population to 125 cases per million population

documented in Israel, Sweden and Iran

 Laboratory demonstration of VWF deficiency :

 Plasmaderived F VIII concentrate (intermediate purity)

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