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Hemophilia
-By Dr. Rima Jani PT
(MPT in Pediatric Science)
What is Hemophilia?
 An incurable hereditary bleeding disorder due to absence or deficiency of clotting
factors in the blood.
 Basically the process of hemostasis is impaired.
 Means the process of stopping the flow of blood is impaired.
 Repeated Spontaneous bleeds inside the joint and muscles of the patient, if not
treated promptly lead to permanent disability.
TYPES
 Hemophilia A
• Most common type
• Caused by lack of clotting factor VIII
 Hemophilia B
• Caused by lack of clotting factor IX
 Hemophilia C
• Caused by lack of clotting factor XI
Genetics
Causes
 Hemophilia (Inherited)
o Hemophilia A, B and C
 Hemophilia (Acquired)
o Liver Failure (Liver synthesis I, II, V, VII, VIII, I, X, XI, XIII)
o Vitamin K deficiency (Liver needs Vit. K to synthesis and release factors II, VII,IX and X)
o Autoimmunity against a clotting factor.
o Disseminated Intravascular coagulation which consumes clotting factors.
Classification based on severity
 Mild
• Level is 5-50%
• Only occasional bleeding usually related to significant Trauma or
Surgery.
 Moderate
• Level is 1-5%
• Spontaneous bleeding is uncommon but occur after minor Trauma or
Surgery.
 Severe
• Level is <1% • Spontaneous joint and soft tissue bleeding several times
several months.
Signs and Symptoms
 Easy bruising (Ecchymosis)
 Hematomas (collection of blood outside of blood vessels often in muscles)
 Prolonged bleeding after cut or surgery
 Oozing after tooth extraction
 Gastrointestinal bleeding
 Hematuria (Blood in urine)
 Severe nose bleeds
 Hemarthrosis (Bleeding in joint spaces)
 Severe complication can occur because of bleeding into brain (Stroke or Increased
Intracranial pressure)
Common areas affected
 Joint bleeds are most common
• Knees • Ankles • Elbows
• Joints of the hands are not usually affected except after injury.
 Muscles affected by Hemophilic bleeding
• Biceps brachii
• Forearm flexors
• Iliopsoas (hip flexor)
• Quadriceps
• Hamstrings
• Calf muscles
Clinical Features
 Early
•Tingling sensation
•Feeling of warmth
 Late
•Difficulty in movement
•Pain with movement
•Tightness or swelling
•Numbness or Tingling feeling
F
E
A
T
U
R
E
S
C
L
I
N
I
C
A
L
Diagnosis
 Lab Test
 Platelets (Normal)
 Prothrombin Time (normal)
Tests Extrinsic and Common pathways (VII,X,V,II,I)
 Partial Thromboplastic Time (Increases)
Tests Intrinsic and common pathways (XII,XI, IX,VIII, X, V, II, I)
 Confirmatory Tests
 Tests for special factor activities and
 Mutation testing
Treatment
 Replacing the missing clotting factor in the blood.
 Whole blood
• Plasma • Cryoprecipitate • Factor concentrate
 Physiotherapy
• Therapeutic exercise • Electro therapy
Goals of Physiotherapy
 Pain Relief
 Reduce Muscle spasm
 Soften contracted tissue
 To increase or maintain muscle power
 To increase proprioception
In Subacute Stage
 Isometric exercise
 Active assisted
 Active free exercise as pain allows
In Chronic Stage
 Mobilization exercises according to ROM
 Strengthening exercises
 Self stretching
 Ultrasound Therapy
 Hydrotherapy
Lifestyle modification & Home remedies
 Exercise regularly prescribed by the Physical Therapist.
 Balanced diet to maintain weight and prevent obesity.
 Practice good dental hygiene.
 Parent counselling:
o Protect your child from injuries that could cause bleeding.
o Do not participate in contact sports.
 Avoid certain medication—
o Some drugs can aggravate bleeding such as “Aspirin”, “Ibuprofen.”
o Some drugs prevent blood from clotting such as “Heparin”, ”Warfarin.”
THANK YOU

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Hemophilia and Physiotherapy Treatment

  • 1. Hemophilia -By Dr. Rima Jani PT (MPT in Pediatric Science)
  • 2. What is Hemophilia?  An incurable hereditary bleeding disorder due to absence or deficiency of clotting factors in the blood.  Basically the process of hemostasis is impaired.  Means the process of stopping the flow of blood is impaired.  Repeated Spontaneous bleeds inside the joint and muscles of the patient, if not treated promptly lead to permanent disability.
  • 3.
  • 4. TYPES  Hemophilia A • Most common type • Caused by lack of clotting factor VIII  Hemophilia B • Caused by lack of clotting factor IX  Hemophilia C • Caused by lack of clotting factor XI
  • 6. Causes  Hemophilia (Inherited) o Hemophilia A, B and C  Hemophilia (Acquired) o Liver Failure (Liver synthesis I, II, V, VII, VIII, I, X, XI, XIII) o Vitamin K deficiency (Liver needs Vit. K to synthesis and release factors II, VII,IX and X) o Autoimmunity against a clotting factor. o Disseminated Intravascular coagulation which consumes clotting factors.
  • 7. Classification based on severity  Mild • Level is 5-50% • Only occasional bleeding usually related to significant Trauma or Surgery.  Moderate • Level is 1-5% • Spontaneous bleeding is uncommon but occur after minor Trauma or Surgery.  Severe • Level is <1% • Spontaneous joint and soft tissue bleeding several times several months.
  • 8. Signs and Symptoms  Easy bruising (Ecchymosis)  Hematomas (collection of blood outside of blood vessels often in muscles)  Prolonged bleeding after cut or surgery  Oozing after tooth extraction  Gastrointestinal bleeding  Hematuria (Blood in urine)  Severe nose bleeds  Hemarthrosis (Bleeding in joint spaces)  Severe complication can occur because of bleeding into brain (Stroke or Increased Intracranial pressure)
  • 9. Common areas affected  Joint bleeds are most common • Knees • Ankles • Elbows • Joints of the hands are not usually affected except after injury.  Muscles affected by Hemophilic bleeding • Biceps brachii • Forearm flexors • Iliopsoas (hip flexor) • Quadriceps • Hamstrings • Calf muscles
  • 10. Clinical Features  Early •Tingling sensation •Feeling of warmth  Late •Difficulty in movement •Pain with movement •Tightness or swelling •Numbness or Tingling feeling
  • 12. Diagnosis  Lab Test  Platelets (Normal)  Prothrombin Time (normal) Tests Extrinsic and Common pathways (VII,X,V,II,I)  Partial Thromboplastic Time (Increases) Tests Intrinsic and common pathways (XII,XI, IX,VIII, X, V, II, I)  Confirmatory Tests  Tests for special factor activities and  Mutation testing
  • 13. Treatment  Replacing the missing clotting factor in the blood.  Whole blood • Plasma • Cryoprecipitate • Factor concentrate  Physiotherapy • Therapeutic exercise • Electro therapy
  • 14. Goals of Physiotherapy  Pain Relief  Reduce Muscle spasm  Soften contracted tissue  To increase or maintain muscle power  To increase proprioception
  • 15. In Subacute Stage  Isometric exercise  Active assisted  Active free exercise as pain allows
  • 16. In Chronic Stage  Mobilization exercises according to ROM  Strengthening exercises  Self stretching  Ultrasound Therapy  Hydrotherapy
  • 17. Lifestyle modification & Home remedies  Exercise regularly prescribed by the Physical Therapist.  Balanced diet to maintain weight and prevent obesity.  Practice good dental hygiene.  Parent counselling: o Protect your child from injuries that could cause bleeding. o Do not participate in contact sports.  Avoid certain medication— o Some drugs can aggravate bleeding such as “Aspirin”, “Ibuprofen.” o Some drugs prevent blood from clotting such as “Heparin”, ”Warfarin.”

Editor's Notes

  1. Mutated gene for Hemophilia A is called F8 Mutated gene for Hemophilia B is called F9 Both of them are on X chromosome So it is an X linked recessive disorder