Bleeding and Clotting Disorders - Hemophilia, Factor V Leiden, Von Willebrand Disease, APS, Heparin, Warfarin

Question 1

Haemophilia
-pathophysiology and types
-investigations
-presentation
-management

Answer 1

X linked recessive - more common in males
A - F8 deficient (children)
B - F9 deficient (infants)
Both involved in the intrinsic pathway => impaired clotting

BLEEDING INTO JOINTS AND MUSCLE
Easy bruising
Nosebleeds, GI bleeds
Normal bleeding time

FBC - rule out platelet dysfunction
-V HIGH aPTT (intrinsic pathway affected)
-normal PT (no impact on extrinsic or common pathway)
LFT - RO liver synthesis dysfunction
Mixing studies (sample plasma and normal plasma) - differentiate between factor deficiency or acquired hemophilia with factor AB
VWB factor antigen testing

US, joint Xray - localise damage
CT/MRI - localise intracranial bleeding

Genetic mutation testing

Supportive
-analgesia - paracetamol, opioids
-RICE if MSK
-physio
-avoid contact sports, aspirin, NSAIDS

Definitive - replace missing factors
-with time, factor inhibitor ABs develop. Must increase doses of factor for same effect

Question 2

Von Willebrand disease
-pathophysiology

Answer 2

MOST COMMON INHERITED BLEEDING DISORDER
Autosomal dominant

Normally
-promotes platelet adhesion to damaged endothelium
-carrier molecule for F8

HEAVY PERIODS, NOSEBLEEDS, BRUISING
Prolonged bleeding from surgery, gums

FBC - normal
aPTT - normal or increased if F8 reduced
PT - normal
Fibrinogen - normal

Tranexemic acid - mild bleeding
Desmopressin - causes vWF release from endothelial cells
F8 conc

Question 3

Factor V Leiden
-pathophysiology
-presentation

Answer 3

Activated protein C resistance - MOST COMMON INHERITED THROMBOPHILIA

Increased risk of clots, DVTs

Question 4

Antiphospholipid syndrome
-pathophysiology
-presentation
-investigations

Answer 4

Antiphosholipid ABs => increased risk of clots

Arterial, venous thromboses
Recurrent fetal loss
Low platelets

AB - anticardiolipin
Thrombocytopenia
Prolonged aPTT

Primary thromboprophylaxis - low dose aspirin
Secondary thromboprophylaxis - lifelong warfarin

Question 5

Coagulation test interpretation
-warfarin
-heparin
-hemophilia
-VW disease
-Vitamin K deficiency
-DIC

Answer 5

Warfarin - high PTT

Heparin, hemophilia - high APTT

VWB, APS - high APTT and bleeding time

Vitamin K deficiency - High APTT and PTT

DIC - high PTT, APTT, bleeding time

Question 6

Acquired hemophilia
-assocations
-management

Answer 6

Associated with
-elderly
-pregnancy
-malignancy
-AI conditions

Steroids