Hemophilia

Question 1

Epidemiology of Hemophilia

Answer 1

Defect in intrinsic pathway
Investigations done: APTT ( Activated Partial Thromboplastin Time)
More common in males
Due to deficiency of Factors 8 in hem A XLR, 9 in hem B XLR and 11 in hem C- autosomal

Deficiency as a result of mutations of respective clotting factor genes

Question 2

Pathophysiology of Hemophilia

Answer 2

Lack of factors to stabilize platelets plug leading to oozing of blood then anemia

Question 3

Which type of females can have hemophilia?

Answer 3

Lyonization of normal X chromosome
Turner syndrome (XO)
Father with hemophilia/ man as a carrier

Question 4

Signs and symptoms of hemophilia

Answer 4

Big bruises
Bleeding into muscles and joints
Spontaneous bleeding
Prolonged bleeding after getting a cut

Question 5

Signs of joint bleeds

Answer 5

Dull ache in joint
Swelling
Pain & stiffness
Difficulty using the joint or muscle

Question 6

Common sites of hemorrhage

Answer 6

-hemathrosis
- intramuscular hematoma
- hematuria
- mucous membrane ( mouth, dental, epistaxis, gastrointestinal)
- CNS
- retropharyngeal
- retroperitoneal
- bleeding causing nerve compression

Question 7

How is hemophilia managed?

Answer 7

1. Replacement of factor 8 or 9
2. Fresh frozen plasma
   3.cryoprecipitate
3. Desmopressin
4. Monoclonals like Emicizumab restores the function of missing activated Factor 8 by bridging Factor 9a and Factor 10, mimick factor Factor 8a
5. Antifibrinolytic agent like tranexamic acid and Amicar

Question 8

How is dosage of factors calculated?

Answer 8

F8 : % of desired rise in plasma F8 x body weight (kg) x 0.5

F 9: % of desired rise in plasma F 9 x body weight x 1.4
For life threatening bleed: 100% rise
Mild bleed: 60 % rise

Question 9

What is the rehabilitation plan after joint bleed?

Answer 9

Protect joint
Rest joint
Ice
Compression
Elevate
F8 or 9 is given to stop bleed
Acute treatment with physiotherapy
Pain management, no NSAIDs. Start with paracetamol -> celecoxib-> morphine

Question 10

What are the complications of bleeding?

Answer 10

Flexion contractures
Joint arthritis/ anthropathy
Chronic pain
Muscle atrophy
Compartment syndrome
Neurologic impairment

Question 11

Prophylaxis for hemophilia

Answer 11

Infusion with factor concentration 2 - 3 times a week with the aim of preventing bleeding .
Types:
primary by age 3 to prevent joint bleeds
Secondary: after 2 or more large bleeds
Tertiary: further damage after onset of joint bleed.
Home based care
Intermittent prophylaxis to prevent bleeding for short periods after surgery.