Haemostasis And Inherited Bleeding Disorders Flashcards
Primary haemostasis
Platelet adhesion and aggregation
Secondary haemostasis
Formation of fibrin network
Fibrinolysis
Clot breakdown
Lifespan of a platelet
8-14 days
What type of genetic material do platelets contain
RNA
What cells are platelets produced from and where
Megakaryocytes
Bone marrow
Contact with which molecule activates platelets
Endothelial collagen
What substances are released by activated platelets
Serotonin
TXA2
ADP
PL
What molecule does thrombin activate in the last step of the coagulation cascade
Fibrin
What turns the primary plug to a stable haemostatic plug
Fibrin
Which receptor on platelets does von willebrand factor bind to
Glycoprotein 1b receptor
What does von willebrand factor bind to
Collagen
Platelets
Which molecule connects platelets in platelet aggregation
Fibrin
What receptor does fibrin bind to on platelets in platelet aggregation
Glycoprotein iib/iiia receptor
Laboratory investigations for inherited bleeding and platelet disorders
Coagulation screen
Platelet count
Platelet function Test
Genetic tests
How are inherited bleeding and platelet disorders treated
Replacement of factors
Antifibrinolytics
DDAVP
FFP
platelets
Which types of condition affect primary haemostasis
Platelet defects
Collagen related disorders
What types of conditions affect secondary haemostasis
Factor deficiency
Anti phospholipid syndrome
Coagulation factor defects symptoms
Delayed onset of bleeding
Solitary large ecchymosis
Haemarthrosis
Platelet disorder/vWF symptoms
Spontaneous + immediate bleeding
Mucosal bleeding
Petechiae
Multiple small ecchymosis
Persistent bleeding at small cuts
Ecchymosis
small bruise caused by blood leaking from broken blood vessels into the tissues of the skin or mucous membranes
Where is the mutation that hpcauses haemophilia
X chromosome
What causes haemophilia
Low level/ complete absence of coagulation factor VIII or IX
Does haemophilia cause faster bleeding
No, just for longer period
Does haemophilia affect primary or secondary haemostasis
Secondary
What genetic abnormality causes mild haemophilia
Carrier of haemophilia gene
What causes Haemophilia a
Deficiency of factor VIII
What causes haemophilia b
Deficiency of factor IX
What are the symptom differences between haemophilia a and b
None
How is factor VIII/IX level affected by stress and pregnancy
Increases
What is the normal level of factor VIII or IX
50-150 iu/dl
Signs of haemophilia
Big lumpy bruises
Bleeding into joints
Spontaneous bleeding
Bleeding for long time
Excessive bleeding after childbirth - carriers
Serious internal bleeding into internal organs after insult
What joints does bleeding most commonly occur into in haemophilia
Knees
Elbows
Ankles
How can a bleed be recognised in haemophiliacs
Reduced movement
Pain
Heat swelling
Bruising - can travel
What can cause deformation of joints in haemophiliacs
Constant long term bleeding into joints
What medications are used to treat haemophilia
IV Recombinant or plasma factor VII/IX
SC DDAVP
IV/oral tranexamic acid
How does DDAVP help in haemophilia
Makes platelets release contents including clotting factors
How does tranexamic acid help haemophilia
Helps prevent blood clots breaking down
How can gene therapy be used in haemophilia
Temporarily increase factor levels by releasing therapeutic gene code into liver cells
Which chromosome has a mutation in von willebrands disease
Chromosome 12
Are haemophilia and von willebrand disease sex dependent
Haemophilia - yes
Von willebrand - no
Which is more common, von willebrands disease or haemophilia
Von willebrands disease
Type 1 von willebrand disease
Reduction in von willebrand antigen and factor VIII as a result
Type 2 vin willebrand disease
Vin willebrand factor doesn’t work properly
Type 3 von willebrand factor
Extremely low levels/ complete absence of von willebrand antigen, RiCof, and factor VIII
What does RiCof test
Von willebrand factor activity
Vin willebrand disease symptoms
Nose bleeds
Easy bruising
Gum bleeds
Menorrhagia
Menstrual bleeding more than 7 days
Intestinal/gut bleeding
Which medications are used for von willebrand disease treatment
IV Wilate and voncento
SC DDAVP
IV/ oral tranexamic acid
What are wilate and voncento
FVIII and vWF replacement medications
