World Haemophilia Day : Bleeding disorders

Haemophilia

1. HAEMOPHILIA PRESENTATION BY : ASHISH RAJPUT BAMS 4 th Yr., Student Desh Bhagat Ayurvedic College & Hospital Mandi Govindgarh.

2. WHAT IS HAEMOPHILIA ? World Haemophilia Day is held on 17 April. Also known as Royal’s disease, because it was carried by many members of Europe’s royal families. Queen Victoria of England was a carrier of haemophilia. X- linked recessive inherited bleeding disorder More common in males than females. Transmitted via females to men who are sufferers, carry a single mutated gene are generally asymptomatic and not affected. It is a commonest inherited group of bleeding disorder occurring due to hereditary deficiency of coagulation or low level of clotting factors resulting in excess bleeding in affected individuals. People who have haemophilia often have longer bleeding after some sort of contact to injury. People who have severe haemophilia starts to have spontaneous bleeding in the joints and muscles all around the body. It is an INCURABLE disorder.

3. Types of Haemophilia H. Type A – 80% H.Type B – 20%

4. Causes of Haemophilia By Birth (Genetic) :– most common Acquired (Autoimmune/mutation): - Eg. Immune system develops antibodies Attacking CF VII or IX, etc. INCIDENCE 1 per 5000 males 1 per 10000 females

5. GENETICS

6. Females affected only when: Turners syndrome Mosaicism/Lyonisation Mother to Daughter Transmission (Possible theoretically but extremely rare )

7. PATHOPHYSIOLOGY A B

8. Haemophilia A

9. Severity of Haemophilia

10. HAEMOPHILIA B

11. SIGN & SYMPTOMS

12. How is Haemophilia Diagnosed ? By family history Complete haemogram Hb count – decreased TLC – normal DLC – normal Platelets count – normal 3. X- Ray of joint Knee, elbow, ankle 4. CT – prolonged 5. PT – usually normal (9-12)sec. 6. APTT(Activated partial thromboplastin time ) – prolonged 2-3 times (26*3 )sec. in mild to moderate CF IX deficiency, it may be normal. Thus, if haemophilia is suspected, a CF IX assay should be performed even if the PTT is normal 7. Special Investigation CF VIII assay

13. Management Options Management Options A. Prevention of bleeding episodes ( eg. Muscles , nose , superficial rupture etc) eg. Fibrin glue Basic t/t is R REST I ICE PACKS C COMPRESS E ELEVATES B. Replacement therapy also k/a treatment on demand replacement of CF VIII or IX to hemostatically adequate plasma levels for prevention or T/T of acute bleed Fresh frozen Plasma (FFP) 160-250ml Cryoprecipitate F VIII or F IX concentrate Dose – One unit is defined as amount of F VIII (100ng/ml) or F IX ( 5micro g/ml) in 1 ml of normal plasma. F- VIII dose (IU)= Target FVIII - FVIII baseline levels x body weight(kg) x 0.5 unit/kg level 30-40 to 100-150 U/dL for 5/7 day F- IX dose (IU) = Target FIX – FIX baseline levels x body weight(kg) x 1 unit/kg level 30 to 80-100 U/dL for 5/7 day

14. Management Options Management Options C. Gene Therapy D. Desmopressin ( DDAVP ) stimulate & release of stored CF VIII or von Willebrand factor ( it carries & bind F VIII) Injections or nasal sprays IV dose – 0.3mcg/kg, in 25-50mL NS over 20-30 min. Intranasal route 150 mcg to 300 mcg

15. Management Options Management Options Antifibrinolytic therapy inhibits the fibrinolysis of thrombus by plasma eg. TRANEXAMIC ACID oral – 25mg/kg/dose every 6- 8 hr. iv – 10mg/kg/dose every 6-8hr. EACA ( Epsilon amino caproic acid ) 100 mg/kg 6hr. Oral minor surgeries , tooth extraction APCC ( activated prothrombin complex concentrates ) increase FVIIa & X , thrombin Analgesics Antibiotics Hematinics

16. Prevention Aviod IM injections (apply 5min. Pressure) Avoid contact sports Orthopedic care – traction ,splinting ,reconstructive surgery Prophylactic immunisation Proper checkups & Councelling Avoid NSAIDS

17. Raise awareness about haemophilia & other bleeding disorders & to promote advocacy & support for people.