hemophiliac patient history and case presentation. topic discussion related to hemophilia approach to a patient who is bleeding

1. HEMOPHILIA
Presented by :
Muhammad Nabeel (11-MBBS-062)
Sehrish Riaz (11-MBBS-037)
Motia Noor (11-MBBS-046)

2. Patient’s Profile
 Name : Muhammad Hasnain
 Age : 4 years
 Residence : Qasim market, Rawalpindi
 Presented to : OPD on 22nd February 2016

3. Presenting Complaint
 Bleeding from gums 01 day.

4. History Of Presenting Complaints
 Known case of hemophilia
 History of spontaneous bleeding from gums in the morning.
 Fresh blood.
 Quantity : 4 to 5 table spoons.
 Relieving factor : applying cold water to the site.
 Bleeding reoccurred again after 2 to 3 hours.
 Same episode of bleeding at night.
 No history of bleeding from any other site in form of hemoptysis,
hematuria, hematemesis, bruises.

5. Past History Of Bleeding
• 40th day of life
• History of prolong bleeding from circumcision site for 2-3 hours.
• Transfused with blood and fresh frozen plasma
• At the age of 11 month
• Trauma to the oral mucosa
• Diagnosed as a case of hemophilia on the basis of investigation
• Transnfused with fresh frozen plasma

6. • At the age of 1 and a half years of life
• Trauma to the tongue
• Transfused with fresh frozen plasma
• At the age of 2 and a half years of life
• Spontaneous bleeding
• Transfused with fresh frozen plasma

7.  No history of swelling at the site of injection after vaccination.
 Multiple episodes of right knee joint swelling and bruises due to fall and
trauma.

8.  No history of
• Weight loss, weakness, recurrent chest infection
• fits, headache, muscular weakness
• Shortness of breath or palpitations
• Jaundice

9. Family History
 No previous positive family history of hemophilia.
??
4 years 2 and a half years

10. Birth History
 Birth at term, delivered at home by a midwife.
 Ante-natal : unremarkable
 Natal : unremarkable
 Post-natal : unremarkable
Vaccination History
 Fully vaccinated according to the EPI schedule.

11. Developmental History
 Normal except for bruises he got while starting walking
Nutritional History
 He has normal appetite
Socioeconomic History
 Low socioeconomic family

12. Examination
 General Physical Examination
• Pulse : 64 per minute
• Respiratory rate : 22 breaths per minute
• Blood pressure : 110/70 mmHg
• Temperature : 36.8 ºC

14. `

15.  Head circumference : 47.5 cm

16. • Pallor
• Oral hygiene poor

17.  No bleed from any other site seen like petichae, nose bleed except for one bruise

18.  Abdominal examination
• Symmetrical, no hepatosplenomegaly
 Respiratory examination
 Cardiovascular examination Unremarkable
 CNS examination

19. Investigation

21. Follow-up And Advice
 Factor VIII assay
 Chromosomal analysis of mother
 X-ray knee joint
 Avoid intramuscular injections
 Avoid contact sports like running, football, cricket, riding bicycle.
 Avoid drugs which promote bleeding
 Mother counselling
 Inform school authorities
 Registration with hemophilia center
 Report in case of heavy bleeding

22. What is Hemophilia?

23. Types
 Hemophilia A
 Hemophilia B

24. Hemophilia A
 Coagulation disorder
 Factor VIII deficiency

25. Inheritance
 X-Linked Recessive

26. Incidence

27. FACTOR VIII
 1unit/ml = 100%
 Normal range is 50-150%.

29. Clinical Manifestations
Severe factor VIII deficiency
 < 1% activity
 Frequent spontaneous bleeding from
skin , mucous membrane , joints,
muscles and viscera
Moderate Factor VIII
deficiency
 1-5% activity

30. Mild Factor VIII deficiency
 6-30% activity
 Trauma
 surgery

31. COMMON PRESENTATIONS

32. UMBLICAL CORD BLEED

33. CIRCUMCISION BLEED

34. HEMARTHROSIS

35. VACCINATION HEMATOMA

36. Diagnosis
 Positive family history
 APTT is prolonged
 Clotting time prolonged
 Bleeding and prothrombin time is normal
 Factor VIII assay

37. Complications

38. Intracranial hemorrhage

39. Intramuscular hematomas

40. Hemarthrosis

41. Infections Related To Blood Transfusion

42. General Supportive Care
 Prevention of trauma
 Avoid aspirin
 Immunization

43. SPECIFIC MANAGEMENT
Normalize factor VIII activity by:
 Factor VIII concentrate
 Whole fresh blood
 Fresh Frozen Plasma
 Cryoprecipitate

44.  For Life threatening bleed :80-100% activity required
 For Mild to moderate bleed : 40% activity required

45. MILD BLEED
 Mild Bleed: Desmopressin acetate
 Oral Bleed: Aminocaproic and tranexamic acid

46. PREVENTION
 Genetic counseling
 Antenatal diagnosis

47. PROGNOSIS
 Attention is given to child’s :
 Physical
 Emotional
 Social
 Educational status

48. Hemophilia B
 Factor IX deficiency
 X-linked recessive
 APTT prolonged
 PT and thrombin time normal
 Diagnosis: Factor IX assay
 Treatment: Fresh frozen plasma/factor IX administration

49. Differential diagnosis
 Hemophilia A
 Hemophilia B
 Idiopathic thrombocytopenic purpura
 Platelet function disorder
 Von willebrand disease

50. APPROACH TO BLEEDING
CHILD

51. APPROACH TO BLEEDING CHILD
 HISTORY
 CLINICAL EXAMINATION
 LAB INVESTIGATIONS

55. PLATELET COUNT LOW
CONGENITAL ( Fanconi syndrome)
ACQUIRED ( idiopathic , drug induced )
PLATELET COUNT IF NORMAL
Platelet function disorders ( morphology , aggregometery , electron microscope )

56. QUESTIONS AND ANSWERS

57. MCQS

58. A 5 year old boy presents to out patient department with complaint of joint swelling
after trauma for last 02 days. His lab shows :
Platelet count = 170, 000 (150,000 - 400 ,000)
Prothrombin Time = 14 :12 seconds
Activated Partial Thromboplastin Time = 50:25 seconds
What is most probable diagnosis ?
A. Disseminated Intravascular Coagulation
B. Hemophilia
C. Idiopathic Thrombocytopenic purpura
D. Platelet function disorders
E. Von Willebrand Disease

59.  Answer is Hemophilia

60.  A 7 year old boy presents with oral cavity bleed after tooth extraction. On
examination , there was no other bleeding except few bruises seen over body.
Bleeding time is normal ,Clotting time is raised, Activated Partial Thromboplastin
Time is also raised.
Which diagnostic tests should be done ?
A. Bone marrow biopsy
B. Factor IX assay
C. Factor VIII assay
D. Platelet counts
E. Von Willebrand assay

61.  Answer is Factor VIII assay

62.  A 10 year old boy I vaccinated according to EPI in infancy, known case of
hemophilia. He was diagnosed at the age of 3 years when he had profuse
bleeding from the gums . Since then he is being transfused regularly with fresh
frozen plasma. Now he developed jaundice with hepatomegaly.
What is therapy related complication in this scenario ?
A. Hepatitis B
B. Human immunodeficiency virus
C. Hepatocellular carcinoma
D. Hepatitis C
E. Wilsons disease

63.  Answer is Hepatitis C

64.  A 3 year boy old presents with bleeding from dental cavity. During the hospital
admission he was diagnosed as a case of Hemophilia.
What is the first line of management ?
A. Fresh frozen plasma
B. Factor VIII administration
C. Packed red blood cells
D. Platelets transfusion
E. Whole blood transfusion

65.  Answer is Factor VIII administration

66. SEQS

67.  A 2 year old child presents to out patient department with complaints of gum
bleeds. On examination, the child is active ,vitally stable and oral cavity shows
minor bleed from gums. Rest of systemic examination is non significant
 Lab investigation shows
 Hemoglobin = 11.5 g/dl
 TLC = 6000/ cmm
 Platelets = 200 000
 Bleeding time = 1 to 2 seconds
 Prothrombin Time = normal
 Activated Partial Thromboplastin Time = prolonged
 Clotting Time = prolonged

68.  What is most probable diagnosis ?

69.  Hemophilia

70.  What further investigations you would like to do to confirm
diagnosis ?

71.  Factor VIII & Factor IX assays

72.  What supportive measures should be taken to prevent bleed
?

73. Supportive measures are ;
 Avoid trauma
 Anticipatory guidance like seat belts , car seats , bike helmets etc
 Avoid violent contact sports
 Avoid aspirin and NSAIDS
 Avoid intramuscular injections