SlideShare a Scribd company logo
1 of 59
Hemophilia


                                   Dr. Kalpana Malla
                                       MD Pediatrics
                           Manipal Teaching Hospital

Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
Introduction:HAEMOPHILIA
• Commonest inherited bleeding
  disorder
• Bleeding due to deficiency of FVIII /
  IX / XI coagulant activity
• Severity of bleeding is related to
  FVIII / IX /XI concentration in blood
INCIDENCE
• 1 per 5,000 male births
• 1 per 10,000 population

• 85 % - F VIII deficiency
• 10- 15 % - F IX deficiency
• Haemophilia A: B= 7:1
Mode of Inheritance :


– X- linked recessive
   Males affected
  Females carriers
INHERITANCE
INHERITANCE

• Father with Haemophilia:
      Daughters are carriers Sons normal

• Mother with haemophilia gene (carrier)
     Sons     50:50 normal or affected
     Daughters 50:50 normal or carriers
FEMALES AFFECTED ONLY WHEN:

           1) TURNERS SYNDROME
         2) MOSAICISM/LYONISATION
          3) MOTHER TO DAUGHTER
            TRANSMISSION (POSSIBLE
          THEORETICALLY BUT EXTREMLY
                    RARE)
Types:

• Haemophilia A – deficiency of Factor VIII
• Haemophilia B – deficiency of Factor IX
• Haemophilia C – deficiency of Factor XI
HAEMOPHILIA A & B:
• Basic abnormality :
1. Reduction in amount of protein in
  factor
2. Dysfunctional protein
         5-10 % Haemophilia A
         40-50 % ” ”       B
Severity of haemophilia

• 1 ml of normal plasma contains 1 unit (U) of each
  factor
   100 ml plasma contains 100 U/dl (100 % activity)
  Severity depends on factor level in blood:
● Severe haemophilia: < 1 U/dl (%)
● Moderate haemophilia: 1-5 U/dl (%)
● Mild haemophilia: 5-30 U/dl (%)
Severity of haemophilia

   • Haemostatic level of factor VIII: 30-40 U/dl

   •   ”    ” of factor IX: 25-30 U/dl
Severity of Haemophilia

Severity Factor       Type of presentation
         level
          iu/dl (%)
Severe   <1           Spontaneous bleeds, Severe bleeding


Moderate 1-5          Few bleeds, Haemathrosis - traumatic

Mild     5-30         Few bleeds, Post-traumatic
                      Post-dental surgery
Pathophysiology:
tissue injury

platelet plug

              delayed   (Haemophilia A & B)

fibrin clot

prolonged bleeding
CLINICAL FEATURES – SUBTLE

• Bleeding as a baby rare
• Prolonged bleed from umbilical cord
• Muscle hematoma during immunisation
• Bleeding during circumcision
CLINICAL FEATURES – SUBTLE
• Toddlers - Large and prolonged bleed to
  trivial injury/cuts/abrasions
• Lip bleeds (hematomas)
• First bleeding in childhood
    Tooth extraction
    Trauma with walking
Gum bleeds while brushing teeth
SIGNIFICANT HEMORRHAGES

• RETROPERITONEAL H’GE: severe abd
   pain, anemia and shock
• HEMATURIA
• GI BLEED : difficult to control, severe
• INTRACRANIAL:
   extradural, subdural, intracerebral
 - Headache, vomiting, altered sensorium ->
   coma
• May be seen in neonates
SUBDURAL HEMORRHAGE
CLINICAL FEATURES - FRANK
HEMARTHROSIS (joint bleed) – hallmark of
  hemophilia
• Joints affected:
• in toddlers - ankle (most common) – earliest jt
  involved due to lack of stability as they assume
  upright posture
• Older child – knee, elbow (most common)
** Target joint – recurrent bleeding at a same
  joint
• LL > UL
CLINICAL FEATURES - FRANK
• Later : all joints
• Contact sports can provoke
• Recurrent – may be unprovoked,
  spontaneous

LARGE HEMATOMAS & EXTENSIVE
  ECCHYMOSES
BLEEDING INTO JOINTS


• First haemorrhage : Swelling >> Pain

• Subsequent haemorrhages: Pain >>
  Swelling
Bleeding in Haemophilia


•   Acute Haemarthrosis
•   Chronic haemophilic arthropathy
•   Bleeding into muscles
•   Haemophilic pseudo tumour - cysts
•   Haematuria
•   Gastrointestinal bleeding
•   Intracranial bleeding
Bleeding in Haemophilia


BLEEDING IN CARRIERS
• Reduced FVIII (IX) levels
• Mild bleeding tendency
• Childbirth
C/F OF ACUTE HAEMARTHROSIS

• Abnormal sensation
• Pain and swelling of joint
• Limitation of movement - especially
  flexion
• Tenderness and heat in the joint
Acute symptoms last 3-4 days; full recovery
  takes weeks
STAGES

• Initial bleed into joint - haemarthrosis
• Inflammatory stage affecting
       Synovium (synovial hypertrophy)
       Cartilage - Bone
• Final Stage
       Permanent joint changes
       Erosion & destruction Cartilage, Bone -
       Knees** ,Ankles** , Elbows*
        Wrists
         Shoulders           less common
         Hips
Chronic Haemophilic Arthropathy
 • Repeated bleeds - many years 
   Chronic degenerative changes
 • Chronic haemophilic arthritis → Loss
   of joint movement → Fixed flexion
   contractures → Severe muscle wasting
   → Muscle action imbalance →Valgus
   deformities → Crippling deformities →
      Wheel chair-bound
Chronic Haemophilic Arthropathy – Radiological
                  Changes
•   Epiphyseal overgrowth
•   Enlargement of bone ends
•   Loss of cartilage (joint space)
•   Gross irregularity articular surface
     –Subchondral collapse
     –Subchondral cysts
     –Osteophyte formation
     –Osteoporosis
     –Changes in joint alignment
HAEMOPHILIC PSEUDO TUMOURS (BLOOD
 CYSTS)

• Cysts within the fascial muscle envelope
• Cysts arising in muscles
• Cysts arising from sub-periosteal
  haemorrhage
• Pseudo tumours in bone
• Gross destruction of normal architecture
  of bone
• Large bone cysts
• Pathological fracture
Complications :
• Pain
• Anaemia (proportionate to bleeding)
• Constitutional disturbances:
    fever < 24 hrs
    anorexia, malaise
• Chronic arthritis
• Pressure effects of large haematomas
• Transfusion acquired infections
• Inhibitors
Lab findings:
•   Hb low – proportional to blood loss
•   Platelets- normal
•   Bleeding time -normal
•   PT normal
•   APTT prolonged > 2-3 times ULN
•   CT prolonged
•   Low levels of F VIII / IX
•   Factor VIII and IX assay : mixing studies
•   Genetic analysis
MIXING STUDIES
• To determine if prolonged PT or PTT is due to
  a factor deficiency or an inhibitor
• Normal plasma : all Clotting factors-V,VIII,
  IX,X,XI,XII
• Method: add patient plasma to equal volume
  of normal plasma and repeat PT & PTT
• Correction of PT & PTT – suggests- deficiency
  of clotting factors
• Assays for factors
MIXING STUDIES

• Remains prolonged after mixing study:
  indicates inhibitor - most common is
  lupus anticoagulant
         - therapeutic anticoagulant
    - rarely ,inhibitors to factors VIII, IX, XI
MIXING STUDIES
• With normal /adsorbed plasma/aged plasma
• Normal plasma : all factor present
• Adsorbed plasma : FIX- deficient
• Aged plasma - FVIII- deficient
• Mix patient’s plasma with normal /aged/
  adsorbed plasma –
• Correction of APTT with normal & aged
  plasma/ not with adsorbed plasma  F IX
  deficiency
• Correction of APTT with normal /
  adsorbed plasma & not with aged
  plasma  F VIII deficiency
• If correction does not occur suspect
  inhibitor
Inhibitors:
• Antibodies against factors blocks clotting
  activity
• 14-25 % patients who receive factors (VIII/ IX)
• Failure of a bleeding episode to respond to
  appropriate replacement therapy 1st sign of
  inhibitor
• Others develop higher titres 
  desensitisation- higher doses of factors given
RADIOLOGICAL INVESTIGATIONS
•   Radiographs of joints
•   USG joints for effusions
•   MRI joints/ abdomen
•   CT head
MANAGEMENT -PRINICIPLES
• Control bleeding episodes – replacement
  therapy
• Prophylaxis and prevention
• Life style modifications
• Treatment of complications
• Rehabilitation
• Antenatal diagnosis and counselling
• Team effort : pediatrician, hematologist,
  orthopedician, physiotherapist, dentist
REPLACEMENT THERAPY
•   Fresh whole blood
•   FFP
•   Cryoprecipitate
•   Factor concentrates
•   Recombinant/ porcine factor VIII FIX :
    inhibitors of natural F-VIII/IX
• Prothrombin complex concentrates
  (PCC)
FFP AND CRYOPPT
• FFP contains F VIII and IX
• CRYOPPT contains F-VIII, fibrinogen, VWF
• 1 unit FFP = 200 units factor VIII/IX
• 1 unit cryoppt = 100 units factor VIII
• FVIII 1u/kg Increase plasma factor VIII by 2% (
  2 iu/dl) - t ½ = 8 hrs
• FIX 1u/kg Increase plasma factor IX by 1%
  (1iu/dl) - t ½ = 18-20 hrs
• Risk of HIV, HBV, HCV, CMV transmission
FACTOR CONCENTRATES
• Prothrombin complex concentrates
  (PCC) - Contain F IX & Vitamin K
  dependent factors I.e. II, VII, IX, X – high
  cost
• Pure factor IX concentrates available
  – Currently high cost
THERAPY FOR HAEMOPHILIA

• FACTOR RECOVERY AFTER I.V.
  INFUSION
     Factor VIII  100%
     Factor IX30-50%

• Raise factor levels to:
     100 U/dl – life threatening bleeds
      35- 40 U/dl – other bleeds
DOSAGE CALCULATION



• Dose of F VIII (U):
 desired rise in plasma F VIII (U/dl) X body wt (kg) X
  0.5
• Dose of F IX (U):
 desired rise in plasma F IX (U/dl) X body wt (kg) X
  1.4
Factor
                                                 FVIII
                                      level               FIX Dose
Indication or Site of Bleeding                   Dose,
                                      Desired,            IU/kg
                                                 IU/kg*
                                      %
Severe epistaxis; mouth, lip,
                                      20-50      10-25    20-50
tongue, or dental work
Joint (hip or groin) - Repeat in 24-
48 h                                 40          20       40

Soft tissue or muscle                 20-40      10-20    40

Muscle (calf and forearm)             30-40      15-20    40
Muscle deep (thigh, hip, iliopsoas)
                                      40-60      20-30    40-60
Transfuse, repeat at 24 h


Neck or throat                        50-80      25-40    50-80
Hematuria                    40       20      40


Laceration                   40       20      40

GI or retroperitoneal
                             60-80    30-40   60-80
bleeding

Head trauma (no evidence of
                            50        25      50
CNS bleeding)


Head trauma (probable or
definite CNS bleeding, eg,
                             100      50      100
headache, vomiting,
neurologic signs)

Trauma with bleeding,
                             80-100   50      100
surgery†
Other measures:

• General supportive measures:
   bed rest
   hospitalize for severe bleeds
   analgesics
   Local haemostasis
   Immobilisation
   Physiotherapy
HEMARTHOSIS MANAGEMENT
• 25 U F-VIII/kg q12h
• Prompt rx : prevent early sequalae
• Check APTT
• Joint immobilisation - 48hrs
• Early ambulation and physio
• NSAIDS : Aspirin, indomethacin – with
  caution- may induce GI bleed
• Paracetamol, pethidine, diazepam – can be
  used
• Home infusions : train for early administration
PROPHYLAXIS
• Mild/moderate hemophilia
• 10-20 units/kg 2-3 times/week
• Can have normal life and
  participate in sports
PREVENTION

• Immunisation : SC not IM
• Avoid IM injections-
   apply pressure 5 minutes
• Avoid contact sports
PREVENTION

• Orthopaedic care- traction, splinting,
  reconstructive surgery
• Regular dental exam and hygiene
• Prophylactic immunization- hep B
• Counselling
DRUGS

• EACA - aminocaproic acid
• Tranexemic acid: 25mg/kg/day
• C/I in hematuria- ppt renal failure
• Desmopressin acetate: increases levels for
  first 2 days from body stores
• Danazol
• Fibrin glue : tooth extraction
Other agents used:
• Tranexamic acid
     Used for external bleeding
     eg. teeth extraction
     Not for internal bleedings
     Inhibits fibrinolysis
     decreases F VIII requirement
• DDAVP D-amino D-arginine Vasopressin
   Found to raise FVIII levels
   Mild haemophilia- releases F VIII from storage
   sites
   Moderate to severe cases- no endogenous
   stores treatment ineffective
   Mild von Willebrand’s disease
   Not effective in Haemophilia B
• Danazol:
    Androgen
    Elevates levels of protein in factors
    Increases levels of F VIII & F IX
• Prednisolone
    Acute synovitis
ANTENATAL DIAGNOSIS

•   18-20 weeks
•   Male fetuses
•   Fetal blood :
•   Amniotic fluid fibroblasts :DNA probe
•   Chorionic villous sampling :PCR
CARRIER DETECTION

• FVIII-C: FVIIIAg = 1:1 normally
• In carriers FVIII-C is low
• Hence ratio: 0.6:1
ACQUIRED HEMOPHILIA
• 5-20% of hemophiliacs develop antibodies against
   factor VIII/IX with time - alloantibodies
• Hemophilia A > Hemophilia B
• Suspect when failure of therapy
• Manage:
1) porcine FVIII
2) activated prothrombin complex
3) activated FVII
4) plasmapheresis
5) immunosuppresants
6) recombinant FVIII/IX
THERAPY FOR HAEMOPHILIA



• DEMAND THERAPY            Hospital
                            Home
  Long standing approach to haemophilia
     Patient treats when bleeds
     Arrest acute bleed
     No arrest, long term sequelae
• PROPHYLACTIC THERAPY
PROPHYLACTIC THERAPY

• Initiated with the 1st bleed
• Home - self or patient infused
• Small dose FVIII (FIX) 2-3 X /week ( 20%-
  30%)
      Prevents bleeds
      Prevents long term sequelae
THERAPY FOR SURGERY/ DENTISTRY
• Prophylactic
• Enables major procedures - 10 days cover
Thank you
Download more documents and slide shows on The
    Medical Post [ www.themedicalpost.net ]

More Related Content

What's hot

What's hot (20)

Anemia Causes, Types, Symptoms, Diet, and Treatment
Anemia Causes, Types, Symptoms, Diet, and Treatment Anemia Causes, Types, Symptoms, Diet, and Treatment
Anemia Causes, Types, Symptoms, Diet, and Treatment
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Bleeding disorders
Bleeding disordersBleeding disorders
Bleeding disorders
 
Von willebrand disease
Von willebrand diseaseVon willebrand disease
Von willebrand disease
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Heamophilia
HeamophiliaHeamophilia
Heamophilia
 
Sickle cell anemia
Sickle cell anemiaSickle cell anemia
Sickle cell anemia
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Megaloblastic anemia
Megaloblastic anemiaMegaloblastic anemia
Megaloblastic anemia
 
Pernicious anemia
Pernicious anemia Pernicious anemia
Pernicious anemia
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Polycythemia
PolycythemiaPolycythemia
Polycythemia
 
Iron deficiency anemia.
Iron deficiency anemia.Iron deficiency anemia.
Iron deficiency anemia.
 
Liver cirrhosis
Liver cirrhosisLiver cirrhosis
Liver cirrhosis
 
Iron Deficiency Anemia (IDA)
Iron Deficiency Anemia (IDA)Iron Deficiency Anemia (IDA)
Iron Deficiency Anemia (IDA)
 
Haemophilia
HaemophiliaHaemophilia
Haemophilia
 
Anemia
AnemiaAnemia
Anemia
 
Management of haemophilia
Management of haemophiliaManagement of haemophilia
Management of haemophilia
 
Cushings syndrome
Cushings syndromeCushings syndrome
Cushings syndrome
 
Thalassemias
ThalassemiasThalassemias
Thalassemias
 

Viewers also liked

Viewers also liked (12)

Haemophilia: Royal disease
Haemophilia: Royal diseaseHaemophilia: Royal disease
Haemophilia: Royal disease
 
Haemophilia
HaemophiliaHaemophilia
Haemophilia
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Color Blindness
Color BlindnessColor Blindness
Color Blindness
 
Colour vision & colour blindness
Colour vision & colour blindnessColour vision & colour blindness
Colour vision & colour blindness
 
Color blindness
Color blindnessColor blindness
Color blindness
 
Colour blindness ppt by meera qaiser
Colour blindness ppt by meera qaiserColour blindness ppt by meera qaiser
Colour blindness ppt by meera qaiser
 
Color blindness
Color blindnessColor blindness
Color blindness
 
Colour blindness
Colour blindnessColour blindness
Colour blindness
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 

Similar to Hemophilia

Presantation on bleeding disorder in pediatric patients
Presantation on bleeding disorder in pediatric patientsPresantation on bleeding disorder in pediatric patients
Presantation on bleeding disorder in pediatric patientsSiraj Shiferaw
 
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptx
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptxBleeding_and_Coagulation_disorders_2015_2_lectures.pptx
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptxkrishmajindal1
 
Approach To A Bleeding Child
Approach To A Bleeding ChildApproach To A Bleeding Child
Approach To A Bleeding ChildSurabhiPeriwal
 
Basics of hemophilia ppt.pptx
Basics of hemophilia ppt.pptxBasics of hemophilia ppt.pptx
Basics of hemophilia ppt.pptxmaulinshah38
 
Bleeding disorders in children 2021
Bleeding disorders in children 2021Bleeding disorders in children 2021
Bleeding disorders in children 2021Imran Iqbal
 
Dental Management of Patients with Bleeding Disorders
Dental Management of Patients with Bleeding DisordersDental Management of Patients with Bleeding Disorders
Dental Management of Patients with Bleeding DisordersDr Afsal S M
 
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdfKs doctor
 
Approach to a child with bleeding for UGs
Approach to a child with bleeding for UGsApproach to a child with bleeding for UGs
Approach to a child with bleeding for UGsCSN Vittal
 
Blood Coagulation.pptx
Blood Coagulation.pptxBlood Coagulation.pptx
Blood Coagulation.pptxFaisal Mohd
 
Hemophilia is an inherited disease occur in male
Hemophilia is an inherited disease occur in maleHemophilia is an inherited disease occur in male
Hemophilia is an inherited disease occur in maleDrMSajidNoor
 
Demands for Haemophilia tratment centres to fullfull universal health access...
Demands for Haemophilia  tratment centres to fullfull universal health access...Demands for Haemophilia  tratment centres to fullfull universal health access...
Demands for Haemophilia tratment centres to fullfull universal health access...SEJOJO PHAAROE
 
Hemophilia Final year M.B.B.S Lecture
Hemophilia Final year M.B.B.S LectureHemophilia Final year M.B.B.S Lecture
Hemophilia Final year M.B.B.S LectureSajjad Sabir
 
Prevsirjoh medical university hemophilia
Prevsirjoh medical university  hemophiliaPrevsirjoh medical university  hemophilia
Prevsirjoh medical university hemophiliaJohnLubutwe
 

Similar to Hemophilia (20)

Presantation on bleeding disorder in pediatric patients
Presantation on bleeding disorder in pediatric patientsPresantation on bleeding disorder in pediatric patients
Presantation on bleeding disorder in pediatric patients
 
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptx
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptxBleeding_and_Coagulation_disorders_2015_2_lectures.pptx
Bleeding_and_Coagulation_disorders_2015_2_lectures.pptx
 
Approach To A Bleeding Child
Approach To A Bleeding ChildApproach To A Bleeding Child
Approach To A Bleeding Child
 
Basics of hemophilia ppt.pptx
Basics of hemophilia ppt.pptxBasics of hemophilia ppt.pptx
Basics of hemophilia ppt.pptx
 
Bleeding disorders in children 2021
Bleeding disorders in children 2021Bleeding disorders in children 2021
Bleeding disorders in children 2021
 
Dental Management of Patients with Bleeding Disorders
Dental Management of Patients with Bleeding DisordersDental Management of Patients with Bleeding Disorders
Dental Management of Patients with Bleeding Disorders
 
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf
112/12/29--高雄地區第494次小兒科聯合病例討論會:淺談血友病.pdf
 
Hemorragics.pptx
Hemorragics.pptxHemorragics.pptx
Hemorragics.pptx
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Approach to a child with bleeding for UGs
Approach to a child with bleeding for UGsApproach to a child with bleeding for UGs
Approach to a child with bleeding for UGs
 
Hemophilia by Suhasis Mondal
Hemophilia by Suhasis MondalHemophilia by Suhasis Mondal
Hemophilia by Suhasis Mondal
 
Blood Coagulation.pptx
Blood Coagulation.pptxBlood Coagulation.pptx
Blood Coagulation.pptx
 
Bleeding disorders
Bleeding disordersBleeding disorders
Bleeding disorders
 
Hemophilia is an inherited disease occur in male
Hemophilia is an inherited disease occur in maleHemophilia is an inherited disease occur in male
Hemophilia is an inherited disease occur in male
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
HEMOPHILIA.pptx
HEMOPHILIA.pptxHEMOPHILIA.pptx
HEMOPHILIA.pptx
 
Hemophilia
HemophiliaHemophilia
Hemophilia
 
Demands for Haemophilia tratment centres to fullfull universal health access...
Demands for Haemophilia  tratment centres to fullfull universal health access...Demands for Haemophilia  tratment centres to fullfull universal health access...
Demands for Haemophilia tratment centres to fullfull universal health access...
 
Hemophilia Final year M.B.B.S Lecture
Hemophilia Final year M.B.B.S LectureHemophilia Final year M.B.B.S Lecture
Hemophilia Final year M.B.B.S Lecture
 
Prevsirjoh medical university hemophilia
Prevsirjoh medical university  hemophiliaPrevsirjoh medical university  hemophilia
Prevsirjoh medical university hemophilia
 

More from The Medical Post

Mechanical Ventilation Cheat Book for Internal Medicine Residents
Mechanical Ventilation Cheat Book for Internal Medicine ResidentsMechanical Ventilation Cheat Book for Internal Medicine Residents
Mechanical Ventilation Cheat Book for Internal Medicine ResidentsThe Medical Post
 
History Taking in Medicine and Surgery for Final MBBS practical exams
History Taking in Medicine and Surgery for Final MBBS practical examsHistory Taking in Medicine and Surgery for Final MBBS practical exams
History Taking in Medicine and Surgery for Final MBBS practical examsThe Medical Post
 
Introduction to Hematology and Anemia
Introduction to Hematology and AnemiaIntroduction to Hematology and Anemia
Introduction to Hematology and AnemiaThe Medical Post
 
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyHemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyThe Medical Post
 
Muscular Dystrophy : Duchenne and Becker's
Muscular Dystrophy : Duchenne and Becker'sMuscular Dystrophy : Duchenne and Becker's
Muscular Dystrophy : Duchenne and Becker'sThe Medical Post
 
Gestational age assessment and Neonatal reflexes
Gestational age assessment and Neonatal reflexesGestational age assessment and Neonatal reflexes
Gestational age assessment and Neonatal reflexesThe Medical Post
 
Respiratory Distress in Newborns
Respiratory Distress in NewbornsRespiratory Distress in Newborns
Respiratory Distress in NewbornsThe Medical Post
 
Neuroblastoma and Nephroblastoma
Neuroblastoma and NephroblastomaNeuroblastoma and Nephroblastoma
Neuroblastoma and NephroblastomaThe Medical Post
 
Neonatal Sepsis and Necrotizing Enterocolitis
Neonatal Sepsis and Necrotizing EnterocolitisNeonatal Sepsis and Necrotizing Enterocolitis
Neonatal Sepsis and Necrotizing EnterocolitisThe Medical Post
 

More from The Medical Post (20)

Mechanical Ventilation Cheat Book for Internal Medicine Residents
Mechanical Ventilation Cheat Book for Internal Medicine ResidentsMechanical Ventilation Cheat Book for Internal Medicine Residents
Mechanical Ventilation Cheat Book for Internal Medicine Residents
 
History Taking in Medicine and Surgery for Final MBBS practical exams
History Taking in Medicine and Surgery for Final MBBS practical examsHistory Taking in Medicine and Surgery for Final MBBS practical exams
History Taking in Medicine and Surgery for Final MBBS practical exams
 
Pain Management
Pain ManagementPain Management
Pain Management
 
Shortcut to ECG
Shortcut to ECGShortcut to ECG
Shortcut to ECG
 
Floppy infant syndrome
Floppy infant syndromeFloppy infant syndrome
Floppy infant syndrome
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Siickle cell anemia
Siickle cell anemiaSiickle cell anemia
Siickle cell anemia
 
Introduction to Hematology and Anemia
Introduction to Hematology and AnemiaIntroduction to Hematology and Anemia
Introduction to Hematology and Anemia
 
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyHemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
 
Bleeding disorder
Bleeding disorderBleeding disorder
Bleeding disorder
 
Aplastic anemia
Aplastic anemiaAplastic anemia
Aplastic anemia
 
Iron deficiency anemia
Iron deficiency anemiaIron deficiency anemia
Iron deficiency anemia
 
Muscular Dystrophy : Duchenne and Becker's
Muscular Dystrophy : Duchenne and Becker'sMuscular Dystrophy : Duchenne and Becker's
Muscular Dystrophy : Duchenne and Becker's
 
Gestational age assessment and Neonatal reflexes
Gestational age assessment and Neonatal reflexesGestational age assessment and Neonatal reflexes
Gestational age assessment and Neonatal reflexes
 
Respiratory Distress in Newborns
Respiratory Distress in NewbornsRespiratory Distress in Newborns
Respiratory Distress in Newborns
 
Prematurity and IUGR
Prematurity and IUGRPrematurity and IUGR
Prematurity and IUGR
 
Perinatal Asphyxia
Perinatal AsphyxiaPerinatal Asphyxia
Perinatal Asphyxia
 
Neuroblastoma and Nephroblastoma
Neuroblastoma and NephroblastomaNeuroblastoma and Nephroblastoma
Neuroblastoma and Nephroblastoma
 
Neonatal Sepsis and Necrotizing Enterocolitis
Neonatal Sepsis and Necrotizing EnterocolitisNeonatal Sepsis and Necrotizing Enterocolitis
Neonatal Sepsis and Necrotizing Enterocolitis
 
Neonatal seizures
Neonatal seizuresNeonatal seizures
Neonatal seizures
 

Recently uploaded

Tips and tricks to pass the cardiovascular station for PACES exam
Tips and tricks to pass the cardiovascular station for PACES examTips and tricks to pass the cardiovascular station for PACES exam
Tips and tricks to pass the cardiovascular station for PACES examJunhao Koh
 
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptx
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptxCURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptx
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptxDr KHALID B.M
 
PT MANAGEMENT OF URINARY INCONTINENCE.pptx
PT MANAGEMENT OF URINARY INCONTINENCE.pptxPT MANAGEMENT OF URINARY INCONTINENCE.pptx
PT MANAGEMENT OF URINARY INCONTINENCE.pptxdrtabassum4
 
Is Rheumatoid Arthritis a Metabolic Disorder.pptx
Is Rheumatoid Arthritis a Metabolic Disorder.pptxIs Rheumatoid Arthritis a Metabolic Disorder.pptx
Is Rheumatoid Arthritis a Metabolic Disorder.pptxSamar Tharwat
 
DIGITAL RADIOGRAPHY-SABBU KHATOON .pptx
DIGITAL RADIOGRAPHY-SABBU KHATOON  .pptxDIGITAL RADIOGRAPHY-SABBU KHATOON  .pptx
DIGITAL RADIOGRAPHY-SABBU KHATOON .pptxSabbu Khatoon
 
The Orbit & its contents by Dr. Rabia I. Gandapore.pptx
The Orbit & its contents by Dr. Rabia I. Gandapore.pptxThe Orbit & its contents by Dr. Rabia I. Gandapore.pptx
The Orbit & its contents by Dr. Rabia I. Gandapore.pptxDr. Rabia Inam Gandapore
 
Integrated Neuromuscular Inhibition Technique (INIT)
Integrated Neuromuscular Inhibition Technique (INIT)Integrated Neuromuscular Inhibition Technique (INIT)
Integrated Neuromuscular Inhibition Technique (INIT)Anjali Parmar
 
A thorough review of supernormal conduction.pptx
A thorough review of supernormal conduction.pptxA thorough review of supernormal conduction.pptx
A thorough review of supernormal conduction.pptxSergio Pinski
 
linearity concept of significance, standard deviation, chi square test, stude...
linearity concept of significance, standard deviation, chi square test, stude...linearity concept of significance, standard deviation, chi square test, stude...
linearity concept of significance, standard deviation, chi square test, stude...KavyasriPuttamreddy
 
Denture base resins materials and its mechanism of action
Denture base resins materials and its mechanism of actionDenture base resins materials and its mechanism of action
Denture base resins materials and its mechanism of actionDr.shiva sai vemula
 
Anuman- An inference for helpful in diagnosis and treatment
Anuman- An inference for helpful in diagnosis and treatmentAnuman- An inference for helpful in diagnosis and treatment
Anuman- An inference for helpful in diagnosis and treatmentabdeli bhadarva
 
Introducing VarSeq Dx as a Medical Device in the European Union
Introducing VarSeq Dx as a Medical Device in the European UnionIntroducing VarSeq Dx as a Medical Device in the European Union
Introducing VarSeq Dx as a Medical Device in the European UnionGolden Helix
 
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)Dr. Aryan (Anish Dhakal)
 
Cardiac Impulse: Rhythmical Excitation and Conduction in the Heart
Cardiac Impulse: Rhythmical Excitation and Conduction in the HeartCardiac Impulse: Rhythmical Excitation and Conduction in the Heart
Cardiac Impulse: Rhythmical Excitation and Conduction in the HeartMedicoseAcademics
 
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1THORACOTOMY . SURGICAL PERSPECTIVES VOL 1
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1DR SETH JOTHAM
 
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHY
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHYTUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHY
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHYDRPREETHIJAMESP
 
CT scan of penetrating abdominopelvic trauma
CT scan of penetrating abdominopelvic traumaCT scan of penetrating abdominopelvic trauma
CT scan of penetrating abdominopelvic traumassuser144901
 
World Hypertension Day 17th may 2024 ppt
World Hypertension Day 17th may 2024 pptWorld Hypertension Day 17th may 2024 ppt
World Hypertension Day 17th may 2024 pptdesktoppc
 
Muscle Energy Technique (MET) with variant and techniques.
Muscle Energy Technique (MET) with variant and techniques.Muscle Energy Technique (MET) with variant and techniques.
Muscle Energy Technique (MET) with variant and techniques.Anjali Parmar
 
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best suppler
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best supplerCas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best suppler
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best supplerSherrylee83
 

Recently uploaded (20)

Tips and tricks to pass the cardiovascular station for PACES exam
Tips and tricks to pass the cardiovascular station for PACES examTips and tricks to pass the cardiovascular station for PACES exam
Tips and tricks to pass the cardiovascular station for PACES exam
 
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptx
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptxCURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptx
CURRENT HEALTH PROBLEMS AND ITS SOLUTION BY AYURVEDA.pptx
 
PT MANAGEMENT OF URINARY INCONTINENCE.pptx
PT MANAGEMENT OF URINARY INCONTINENCE.pptxPT MANAGEMENT OF URINARY INCONTINENCE.pptx
PT MANAGEMENT OF URINARY INCONTINENCE.pptx
 
Is Rheumatoid Arthritis a Metabolic Disorder.pptx
Is Rheumatoid Arthritis a Metabolic Disorder.pptxIs Rheumatoid Arthritis a Metabolic Disorder.pptx
Is Rheumatoid Arthritis a Metabolic Disorder.pptx
 
DIGITAL RADIOGRAPHY-SABBU KHATOON .pptx
DIGITAL RADIOGRAPHY-SABBU KHATOON  .pptxDIGITAL RADIOGRAPHY-SABBU KHATOON  .pptx
DIGITAL RADIOGRAPHY-SABBU KHATOON .pptx
 
The Orbit & its contents by Dr. Rabia I. Gandapore.pptx
The Orbit & its contents by Dr. Rabia I. Gandapore.pptxThe Orbit & its contents by Dr. Rabia I. Gandapore.pptx
The Orbit & its contents by Dr. Rabia I. Gandapore.pptx
 
Integrated Neuromuscular Inhibition Technique (INIT)
Integrated Neuromuscular Inhibition Technique (INIT)Integrated Neuromuscular Inhibition Technique (INIT)
Integrated Neuromuscular Inhibition Technique (INIT)
 
A thorough review of supernormal conduction.pptx
A thorough review of supernormal conduction.pptxA thorough review of supernormal conduction.pptx
A thorough review of supernormal conduction.pptx
 
linearity concept of significance, standard deviation, chi square test, stude...
linearity concept of significance, standard deviation, chi square test, stude...linearity concept of significance, standard deviation, chi square test, stude...
linearity concept of significance, standard deviation, chi square test, stude...
 
Denture base resins materials and its mechanism of action
Denture base resins materials and its mechanism of actionDenture base resins materials and its mechanism of action
Denture base resins materials and its mechanism of action
 
Anuman- An inference for helpful in diagnosis and treatment
Anuman- An inference for helpful in diagnosis and treatmentAnuman- An inference for helpful in diagnosis and treatment
Anuman- An inference for helpful in diagnosis and treatment
 
Introducing VarSeq Dx as a Medical Device in the European Union
Introducing VarSeq Dx as a Medical Device in the European UnionIntroducing VarSeq Dx as a Medical Device in the European Union
Introducing VarSeq Dx as a Medical Device in the European Union
 
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)
Book Trailer: PGMEE in a Nutshell (CEE MD/MS PG Entrance Examination)
 
Cardiac Impulse: Rhythmical Excitation and Conduction in the Heart
Cardiac Impulse: Rhythmical Excitation and Conduction in the HeartCardiac Impulse: Rhythmical Excitation and Conduction in the Heart
Cardiac Impulse: Rhythmical Excitation and Conduction in the Heart
 
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1THORACOTOMY . SURGICAL PERSPECTIVES VOL 1
THORACOTOMY . SURGICAL PERSPECTIVES VOL 1
 
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHY
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHYTUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHY
TUBERCULINUM-2.BHMS.MATERIA MEDICA.HOMOEOPATHY
 
CT scan of penetrating abdominopelvic trauma
CT scan of penetrating abdominopelvic traumaCT scan of penetrating abdominopelvic trauma
CT scan of penetrating abdominopelvic trauma
 
World Hypertension Day 17th may 2024 ppt
World Hypertension Day 17th may 2024 pptWorld Hypertension Day 17th may 2024 ppt
World Hypertension Day 17th may 2024 ppt
 
Muscle Energy Technique (MET) with variant and techniques.
Muscle Energy Technique (MET) with variant and techniques.Muscle Energy Technique (MET) with variant and techniques.
Muscle Energy Technique (MET) with variant and techniques.
 
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best suppler
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best supplerCas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best suppler
Cas 28578-16-7 PMK ethyl glycidate ( new PMK powder) best suppler
 

Hemophilia

  • 1. Hemophilia Dr. Kalpana Malla MD Pediatrics Manipal Teaching Hospital Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
  • 2. Introduction:HAEMOPHILIA • Commonest inherited bleeding disorder • Bleeding due to deficiency of FVIII / IX / XI coagulant activity • Severity of bleeding is related to FVIII / IX /XI concentration in blood
  • 3. INCIDENCE • 1 per 5,000 male births • 1 per 10,000 population • 85 % - F VIII deficiency • 10- 15 % - F IX deficiency • Haemophilia A: B= 7:1
  • 4. Mode of Inheritance : – X- linked recessive Males affected Females carriers
  • 6. INHERITANCE • Father with Haemophilia: Daughters are carriers Sons normal • Mother with haemophilia gene (carrier) Sons 50:50 normal or affected Daughters 50:50 normal or carriers
  • 7. FEMALES AFFECTED ONLY WHEN: 1) TURNERS SYNDROME 2) MOSAICISM/LYONISATION 3) MOTHER TO DAUGHTER TRANSMISSION (POSSIBLE THEORETICALLY BUT EXTREMLY RARE)
  • 8. Types: • Haemophilia A – deficiency of Factor VIII • Haemophilia B – deficiency of Factor IX • Haemophilia C – deficiency of Factor XI
  • 9. HAEMOPHILIA A & B: • Basic abnormality : 1. Reduction in amount of protein in factor 2. Dysfunctional protein 5-10 % Haemophilia A 40-50 % ” ” B
  • 10. Severity of haemophilia • 1 ml of normal plasma contains 1 unit (U) of each factor 100 ml plasma contains 100 U/dl (100 % activity) Severity depends on factor level in blood: ● Severe haemophilia: < 1 U/dl (%) ● Moderate haemophilia: 1-5 U/dl (%) ● Mild haemophilia: 5-30 U/dl (%)
  • 11. Severity of haemophilia • Haemostatic level of factor VIII: 30-40 U/dl • ” ” of factor IX: 25-30 U/dl
  • 12. Severity of Haemophilia Severity Factor Type of presentation level iu/dl (%) Severe <1 Spontaneous bleeds, Severe bleeding Moderate 1-5 Few bleeds, Haemathrosis - traumatic Mild 5-30 Few bleeds, Post-traumatic Post-dental surgery
  • 13. Pathophysiology: tissue injury platelet plug delayed (Haemophilia A & B) fibrin clot prolonged bleeding
  • 14. CLINICAL FEATURES – SUBTLE • Bleeding as a baby rare • Prolonged bleed from umbilical cord • Muscle hematoma during immunisation • Bleeding during circumcision
  • 15. CLINICAL FEATURES – SUBTLE • Toddlers - Large and prolonged bleed to trivial injury/cuts/abrasions • Lip bleeds (hematomas) • First bleeding in childhood Tooth extraction Trauma with walking Gum bleeds while brushing teeth
  • 16. SIGNIFICANT HEMORRHAGES • RETROPERITONEAL H’GE: severe abd pain, anemia and shock • HEMATURIA • GI BLEED : difficult to control, severe • INTRACRANIAL: extradural, subdural, intracerebral - Headache, vomiting, altered sensorium -> coma • May be seen in neonates
  • 18. CLINICAL FEATURES - FRANK HEMARTHROSIS (joint bleed) – hallmark of hemophilia • Joints affected: • in toddlers - ankle (most common) – earliest jt involved due to lack of stability as they assume upright posture • Older child – knee, elbow (most common) ** Target joint – recurrent bleeding at a same joint • LL > UL
  • 19. CLINICAL FEATURES - FRANK • Later : all joints • Contact sports can provoke • Recurrent – may be unprovoked, spontaneous LARGE HEMATOMAS & EXTENSIVE ECCHYMOSES
  • 20. BLEEDING INTO JOINTS • First haemorrhage : Swelling >> Pain • Subsequent haemorrhages: Pain >> Swelling
  • 21. Bleeding in Haemophilia • Acute Haemarthrosis • Chronic haemophilic arthropathy • Bleeding into muscles • Haemophilic pseudo tumour - cysts • Haematuria • Gastrointestinal bleeding • Intracranial bleeding
  • 22. Bleeding in Haemophilia BLEEDING IN CARRIERS • Reduced FVIII (IX) levels • Mild bleeding tendency • Childbirth
  • 23. C/F OF ACUTE HAEMARTHROSIS • Abnormal sensation • Pain and swelling of joint • Limitation of movement - especially flexion • Tenderness and heat in the joint Acute symptoms last 3-4 days; full recovery takes weeks
  • 24. STAGES • Initial bleed into joint - haemarthrosis • Inflammatory stage affecting Synovium (synovial hypertrophy) Cartilage - Bone • Final Stage Permanent joint changes Erosion & destruction Cartilage, Bone - Knees** ,Ankles** , Elbows* Wrists Shoulders less common Hips
  • 25. Chronic Haemophilic Arthropathy • Repeated bleeds - many years  Chronic degenerative changes • Chronic haemophilic arthritis → Loss of joint movement → Fixed flexion contractures → Severe muscle wasting → Muscle action imbalance →Valgus deformities → Crippling deformities → Wheel chair-bound
  • 26. Chronic Haemophilic Arthropathy – Radiological Changes • Epiphyseal overgrowth • Enlargement of bone ends • Loss of cartilage (joint space) • Gross irregularity articular surface –Subchondral collapse –Subchondral cysts –Osteophyte formation –Osteoporosis –Changes in joint alignment
  • 27. HAEMOPHILIC PSEUDO TUMOURS (BLOOD CYSTS) • Cysts within the fascial muscle envelope • Cysts arising in muscles • Cysts arising from sub-periosteal haemorrhage • Pseudo tumours in bone • Gross destruction of normal architecture of bone • Large bone cysts • Pathological fracture
  • 28. Complications : • Pain • Anaemia (proportionate to bleeding) • Constitutional disturbances: fever < 24 hrs anorexia, malaise • Chronic arthritis • Pressure effects of large haematomas • Transfusion acquired infections • Inhibitors
  • 29. Lab findings: • Hb low – proportional to blood loss • Platelets- normal • Bleeding time -normal • PT normal • APTT prolonged > 2-3 times ULN • CT prolonged • Low levels of F VIII / IX • Factor VIII and IX assay : mixing studies • Genetic analysis
  • 30. MIXING STUDIES • To determine if prolonged PT or PTT is due to a factor deficiency or an inhibitor • Normal plasma : all Clotting factors-V,VIII, IX,X,XI,XII • Method: add patient plasma to equal volume of normal plasma and repeat PT & PTT • Correction of PT & PTT – suggests- deficiency of clotting factors • Assays for factors
  • 31. MIXING STUDIES • Remains prolonged after mixing study: indicates inhibitor - most common is lupus anticoagulant - therapeutic anticoagulant - rarely ,inhibitors to factors VIII, IX, XI
  • 32. MIXING STUDIES • With normal /adsorbed plasma/aged plasma • Normal plasma : all factor present • Adsorbed plasma : FIX- deficient • Aged plasma - FVIII- deficient • Mix patient’s plasma with normal /aged/ adsorbed plasma – • Correction of APTT with normal & aged plasma/ not with adsorbed plasma  F IX deficiency
  • 33. • Correction of APTT with normal / adsorbed plasma & not with aged plasma  F VIII deficiency • If correction does not occur suspect inhibitor
  • 34. Inhibitors: • Antibodies against factors blocks clotting activity • 14-25 % patients who receive factors (VIII/ IX) • Failure of a bleeding episode to respond to appropriate replacement therapy 1st sign of inhibitor • Others develop higher titres  desensitisation- higher doses of factors given
  • 35. RADIOLOGICAL INVESTIGATIONS • Radiographs of joints • USG joints for effusions • MRI joints/ abdomen • CT head
  • 36.
  • 37. MANAGEMENT -PRINICIPLES • Control bleeding episodes – replacement therapy • Prophylaxis and prevention • Life style modifications • Treatment of complications • Rehabilitation • Antenatal diagnosis and counselling • Team effort : pediatrician, hematologist, orthopedician, physiotherapist, dentist
  • 38. REPLACEMENT THERAPY • Fresh whole blood • FFP • Cryoprecipitate • Factor concentrates • Recombinant/ porcine factor VIII FIX : inhibitors of natural F-VIII/IX • Prothrombin complex concentrates (PCC)
  • 39. FFP AND CRYOPPT • FFP contains F VIII and IX • CRYOPPT contains F-VIII, fibrinogen, VWF • 1 unit FFP = 200 units factor VIII/IX • 1 unit cryoppt = 100 units factor VIII • FVIII 1u/kg Increase plasma factor VIII by 2% ( 2 iu/dl) - t ½ = 8 hrs • FIX 1u/kg Increase plasma factor IX by 1% (1iu/dl) - t ½ = 18-20 hrs • Risk of HIV, HBV, HCV, CMV transmission
  • 40. FACTOR CONCENTRATES • Prothrombin complex concentrates (PCC) - Contain F IX & Vitamin K dependent factors I.e. II, VII, IX, X – high cost • Pure factor IX concentrates available – Currently high cost
  • 41. THERAPY FOR HAEMOPHILIA • FACTOR RECOVERY AFTER I.V. INFUSION Factor VIII 100% Factor IX30-50% • Raise factor levels to: 100 U/dl – life threatening bleeds 35- 40 U/dl – other bleeds
  • 42. DOSAGE CALCULATION • Dose of F VIII (U): desired rise in plasma F VIII (U/dl) X body wt (kg) X 0.5 • Dose of F IX (U): desired rise in plasma F IX (U/dl) X body wt (kg) X 1.4
  • 43. Factor FVIII level FIX Dose Indication or Site of Bleeding Dose, Desired, IU/kg IU/kg* % Severe epistaxis; mouth, lip, 20-50 10-25 20-50 tongue, or dental work Joint (hip or groin) - Repeat in 24- 48 h 40 20 40 Soft tissue or muscle 20-40 10-20 40 Muscle (calf and forearm) 30-40 15-20 40 Muscle deep (thigh, hip, iliopsoas) 40-60 20-30 40-60 Transfuse, repeat at 24 h Neck or throat 50-80 25-40 50-80
  • 44. Hematuria 40 20 40 Laceration 40 20 40 GI or retroperitoneal 60-80 30-40 60-80 bleeding Head trauma (no evidence of 50 25 50 CNS bleeding) Head trauma (probable or definite CNS bleeding, eg, 100 50 100 headache, vomiting, neurologic signs) Trauma with bleeding, 80-100 50 100 surgery†
  • 45. Other measures: • General supportive measures: bed rest hospitalize for severe bleeds analgesics Local haemostasis Immobilisation Physiotherapy
  • 46. HEMARTHOSIS MANAGEMENT • 25 U F-VIII/kg q12h • Prompt rx : prevent early sequalae • Check APTT • Joint immobilisation - 48hrs • Early ambulation and physio • NSAIDS : Aspirin, indomethacin – with caution- may induce GI bleed • Paracetamol, pethidine, diazepam – can be used • Home infusions : train for early administration
  • 47. PROPHYLAXIS • Mild/moderate hemophilia • 10-20 units/kg 2-3 times/week • Can have normal life and participate in sports
  • 48. PREVENTION • Immunisation : SC not IM • Avoid IM injections- apply pressure 5 minutes • Avoid contact sports
  • 49. PREVENTION • Orthopaedic care- traction, splinting, reconstructive surgery • Regular dental exam and hygiene • Prophylactic immunization- hep B • Counselling
  • 50. DRUGS • EACA - aminocaproic acid • Tranexemic acid: 25mg/kg/day • C/I in hematuria- ppt renal failure • Desmopressin acetate: increases levels for first 2 days from body stores • Danazol • Fibrin glue : tooth extraction
  • 51. Other agents used: • Tranexamic acid Used for external bleeding eg. teeth extraction Not for internal bleedings Inhibits fibrinolysis decreases F VIII requirement
  • 52. • DDAVP D-amino D-arginine Vasopressin Found to raise FVIII levels Mild haemophilia- releases F VIII from storage sites Moderate to severe cases- no endogenous stores treatment ineffective Mild von Willebrand’s disease Not effective in Haemophilia B
  • 53. • Danazol: Androgen Elevates levels of protein in factors Increases levels of F VIII & F IX • Prednisolone Acute synovitis
  • 54. ANTENATAL DIAGNOSIS • 18-20 weeks • Male fetuses • Fetal blood : • Amniotic fluid fibroblasts :DNA probe • Chorionic villous sampling :PCR
  • 55. CARRIER DETECTION • FVIII-C: FVIIIAg = 1:1 normally • In carriers FVIII-C is low • Hence ratio: 0.6:1
  • 56. ACQUIRED HEMOPHILIA • 5-20% of hemophiliacs develop antibodies against factor VIII/IX with time - alloantibodies • Hemophilia A > Hemophilia B • Suspect when failure of therapy • Manage: 1) porcine FVIII 2) activated prothrombin complex 3) activated FVII 4) plasmapheresis 5) immunosuppresants 6) recombinant FVIII/IX
  • 57. THERAPY FOR HAEMOPHILIA • DEMAND THERAPY Hospital Home Long standing approach to haemophilia Patient treats when bleeds Arrest acute bleed No arrest, long term sequelae • PROPHYLACTIC THERAPY
  • 58. PROPHYLACTIC THERAPY • Initiated with the 1st bleed • Home - self or patient infused • Small dose FVIII (FIX) 2-3 X /week ( 20%- 30%) Prevents bleeds Prevents long term sequelae THERAPY FOR SURGERY/ DENTISTRY • Prophylactic • Enables major procedures - 10 days cover
  • 59. Thank you Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]