Hemophilia talk
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1) The document outlines a 5-step approach to diagnosing and managing haemophilia: clinical suspicion, laboratory confirmation, counseling, treatment, and education. 2) It describes 3 case studies where haemophilia was correctly or incorrectly diagnosed in infants and children presenting with bleeding. 3) Proper diagnosis requires prompt laboratory testing to identify deficiencies in clotting factors VIII or IX. Treatment involves factor replacement and education of parents on home therapy and preventing joint damage.
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Hemophilia talk
- 1. Approach to Diagnosis & Management of Haemophilia
- 2. Step 1: Clinical suspicion
- 3. Case 1 Baby boy DOB: 30th July 2010 SVD, discharged well That night, noted bruise behind ears and scalp swelling Brought to A&E
- 4. Case 1 – clinical suspicion Non-accidental injury (NAI) Police report made
- 5. Case 1 – cont’d Hb 4.5 g/dL APTT x 3 >100 sec Rx: PRBCs + FFP transfused
- 6. Case 1 – factor assay Sample sent over to haemostasis lab Within 1 hour FVIII <1 % vWF 90% Δ: Severe haemophilia A
- 7. Do not mistake haemophilia for non- accidental injury (NAI)
- 8. Bleeding – 2 types 1. Immediate bleeding Defects in primary haemostasis Vascular abnormality 2. Delayed bleeding Defects in secondary haemostasis
- 9. Case 1 – Day 2 of life following SVD Bleeding in haemophilia is delayed
- 10. Prompt Accurate Step 2: Laboratory confirmation
- 11. Case 2 2 year old boy c/o sudden onset of headache Vomiting >10x GCS: 12/15 Suspected posterior fossa tumour Courtesy of Dr Peter, March 2012
- 12. Case 2 – cont’d Planned for emergency surgery APTT 127 (36.9- 45.5) sec Unable to do factor assay Sample sent over to reference laboratory Child deteriorated and died Results came back 10 days later FVIII < 1%
- 13. Case 3 5 year-old boy Admitted for upper GI haemorrhage h/o recurrent epistaxis and easy bruising No f/h of bleeding Hb 4.5 g/dL TW 4.5 Plt 398
- 14. Case 3 – cont’d PT 12.o (11.5- 14.4) sec APTT 102.0 (36.9- 45.5) sec 4 PRBC & 4 FFP transfused Factor VIII 2.5% Diagnosis: Moderate Haemophilia A
- 15. Case 3 – cont’d Bleeding stopped with FFP x 3 doses OGDS: pangastritis Switched to hemofil M (high purity FVIII) 3 days later, re-bled Hb fell from 11.o to 5.0 g/dL APTT 98 sec Mixing studies 48 sec
- 16. Case 3 – cont’d Suspected inhibitor; switched to PCC Unable to do inhibitor assay Sample sent to reference laboratory FVIII 3% No inhibitor detected vWF Ag < 1% Diagnosis: severe type 3 vWD
- 17. Learn about haemophilia Genetic risk & Carrier status Inhibitor risk Step 3: Counseling
- 18. Case 1 – Family history Mom: 2 daughters (10 and 6 years old) 6 younger siblings No f/h of haemophilia
- 19. Case 1 – Family tree ? NM I II III 6 yrs
- 20. Case 1 – Counseling D: Your son has been diagnosed with severe haemophilia A. Have you heard about haemophilia? M: No doctor, but from what I see it must be a serious bleeding disorder D: Explain about haemophilia
- 21. Haemophilia Hereditary bleeding disorder X-linked Lack a clotting factor factor VIII (HA) or factor IX (HB) Blood fails to clot Bleeds spontaneously in severe disease 20% present at birth
- 22. XH X Carrier Woman Healthy Man Carrier Girl Healthy Girl Haemophilic Boy Healthy Boy XH X X X X XH Y X Y Y Inheritance 50% 50%
- 23. Classification of Haemophilia Severity Factor level % Bleeding Severe < 1 Spontaneous Moderate 2 – 5 After minor trauma Mild 6 – 40 After major trauma or surgery
- 24. Management Replace the factor that is missing Vaccinations are not contraindicated but must be given S/C Learn about haemophilia and inhibitor risk Learn to recognise bleeds Need to report trauma or bleeding
- 26. Avoid aspirin/ NSAIDs Superficial cuts – OK Platelets – primary haemostasis
- 27. IM injections must be avoided
- 28. Haemarrthrosis right elbow Haemarrthrosis – the hallmark of haemophilia
- 29. Bleeding in haemophilia 1. Haemarrthrosis Begin approx age 1 year Spontaneous May be preceded by ‘tingling’ Blood fills joint cavity Rise in pressure is excruciatingly painful Pressure eventually stops the bleeding Blood damages cartilage Joint becomes prone to recurrent bleeds
- 30. Target joint
- 31. Joint damage
- 32. Bleeding in haemophilia 2. Muscle bleeds Often, apparently spontaneous May result from exertion Blood fills muscle capsule or compartment Compartment syndrome may result Pressure eventually stops the bleeding Psoas bleed is a typical example
- 33. Psoas bleed
- 35. Case 1 – Counseling cont’d M: Does that mean I am a carrier? D: Possible but in 30% it may be a spontaneous mutation M: How do I know if I am a carrier?
- 36. Ratio <0.7 FVIII 82% vWF antigen 81% Ratio: 1.0
- 37. Genetic testing Index patient (NM) Intron 22 inversion by PCR If negative Intron 1 inversion If both negative DNA sequencing Once mutation detected, screen mom
- 38. Case 1 – Result NM- T1468X mutation Mom- normal So mom is not a carrier Not at risk of having another child with haemophilia No need to screen daughters and sisters
- 39. Rx of acute bleeds Prevention of bleeds – Prophylaxis Physiotherapy Step 4: Treatment
- 40. Case 1 – Intracranial Haemorrhage Factor replacement D1 – D2: 100% D3 – D4: 80% D5 – D9: 50% D11 – D14: 30% Monitor FVIII levels D1 – post dose, 6 – 8 h later D2, D4, D6 – trough
- 42. Factor dosing Formula: Dose in units = weight in kg x % rise in factor required K factor (K factor for FVIII = 2.0 , FIX = 1.0)
- 43. Physiotherapy Start exercise once pain subsides Early restoration of Full range of motion Strength Proprioception, balance and coordination
- 44. Case 1 – Prevention of bleeds Started prophylaxis age 10 months at 50 IU/kg once a week After 4 months, difficulty with venous access Port-a-cath inserted on 11/10/11; age 14 months
- 45. Prophylaxis is the Rx of choice Many studies Prophylaxis prevents joint damage Better joint scores * Manco-Johnson Prophylaxis (32 boys) vs. enhanced episodic therapy (33 boys) 93% vs. 55% (normal MRI joints at 6 years) Manco-Johnson MJ, NEJM 2007
- 46. Case 1 – Prophylaxis Factor VIII replacement for port-a-cath insertion 100% bolus 50% 8hrly D1- D2 50% 12hrly D3- D5 Followed by prophylaxis 25 iu/kg 3x/wk Medic alert
- 47. Prophylaxis dose Low dose (Utrecht) 15 – 30 IU/kg High dose (Malmo) 25 – 40 IU/kg 3x/ week for HA 2x/ week for HB Principle: to convert a severe haemophilia to a moderate haemophilia Petrini P, Haemophilia 2004 A Srivastava, Haemophilia 2012
- 48. Starting prophylaxis Primary prophylaxis before any joint bleeds Age 1 – 2 years Primary prophylaxis after 1 or 2 joint bleeds Damage already done
- 49. Explain about inhibitor risk D: There is a 15 – 30% risk of inhibitor development P: What is an inhibitor? D: An inhibitor is an antibody against the infused factor VIII P: Why is it important? D: It will render treatment with FVIII useless
- 50. Prophylaxis protects against inhibitor development Gouw SC et al. Blood 2007;109(6)4648-4654
- 51. Self-infusion & Dosing Recognising problems Communicating Step 5: Caregiver & Patient education
- 52. Mom taught to infuse
- 54. Home therapy
- 55. Self-infusion
- 56. Home & School Visits
- 57. Communicate If any doubts If bleeding not resolved In an emergency If factors running low Plan your travels
- 58. Dental check-ups ½ - 1 yearly Prevention is better
- 59. Physiotherapy Know your exercises Keep to your appointments
- 60. Approach to Diagnosis & Mx of Haemophilia: 5 steps Step 1: Clinical suspicion Step 2: Laboratory confirmation – prompt & accurate Step 3: Counseling & carrier detection Step 4: Treatment/ Home therapy Step 5: Parent/ Caregiver/ Patient education
Editor's Notes
- #12: Posterior fossa tumour
- #15: This hospital can only do FVIII and FIX levels
- #17: Diagnosis: severe type 3 vWD vWF &lt;1%
- #23: Carrier mother has a 50% chance of having a daughter who will be a carrier and a 50% chance of having a son who is a haemophilia ie. 25% chance of passing on the gene with each pregnancy.
- #28: No aspirin or NSAIDs
- #46: 2 RCTs- the other Italian study Gringeri: 21 prophy; 19 OD; Jt damage 29% prophy; 74% OD at 6 years