What is a bleeding disorder?
Where the person fails to clot there blood
What are the main 3 we are going to discuss?
Haemophilia
Von Willebrand’s disease
Thrombocytopenia
What are the 3 main pathophysiological of stopping bleeding and therefore where there can be disorders in?
- Vasoconstriction
- Gap-plugging by platelets
- Clotting cascade activation
What is Haemophilia A and B
Genetic disorder that impairs the body’s ability to make blood clots
What is the alternative name for Haemophilia B (Clue Ho Ho Ho)
Christmas disease
What kind of inheritance do the haemophilia show?
X-linked recessive
Can women get affected by haemophilia?
No it is X-linked Recessive as girls are XY, they can only be carriers
Are all haemophilia familial?
No, 1/3 is a new mutation
What is the epidemiology for the 2 haemophiliac
These are rare
1 in 10’000
1 in 60’000
What is the bleeding severity dependant on
The amount of residual coagulation factor activity
What are the patterns of bleeding?
Haemoarthrosis ie bleeding into the joint spaceL knees, ankles and elbows, patient won’t walk
Muscle haematoma ie big muscle swellingg in the thighs, gluten and ileopsoas
CNS bleed, Post-surgical bleed
What are some complications of Haemophilia?
Sudden onset ICH Synovitis Chronic haemophilic arthroplasty Neurovascualr compression and Stroke
What are the diagnostic tests for haemophilia?
Clinical diagnosis
Prolongued APTT, NORMAL PT, Nomal BT
Decresed factor VIII or IX
Genetic analysis
What is the management of A and B T?
Coagulation factor replacement factor VIII or IX, aim for levels of 2-5%
DDAVP = Desmopressin Injection which stimulates the vWF in Sx
Tranexamic Acid
What is the management of severe TP?
2-3x/wk coagulation factor replacement FVIII or IX
Physio, analgesia
What is vW disease?
Von Willebrand’s disease which is where there is no or decreased amounts of vWF
What is the genetic inheritance of VWD?
Autosomal dominant
What is type 1 deficiency in VWD?
Quantative deficiency
What is type 2 deficiency in VWD?
2 (A, B, M, N): qualitative deficiency determined by site of mutation in relation to vWF function
What is type 3 deficiency in VWD?
Severe (complete deficiency) RARE; joint bleeding and co-cutaneous bleeding
What is the prevalence of VWD?
1 in 200
What are the clinical presentations of VWD?
Platelet type bleeding: bleeding of the Mucosa Epistaxis Purpura Menorrhagia and GI bleeds
What are the findings on FBC?
Raised APTT and Bleeding time
Decreased Factor IIIc and vWF
What is the treatment of VWD?
Replacement of the vWF or DDVAP Tranexamic acid Topical applications and COC AVOID NSAIDs
What is the definition of thrombocytopenia?
Aquired bleeding disorder where there are low platelets
What are the decreased production causes of TP?
Marrow failure
aplasia
Infiltration
What are the increased consumption causes of TP?
Immune ITP
Hypersplenism
What is ITP?
Immune Thrombocytopenia purpura
What are the common causes of ITP?
Infection EBV
Collagenosis
Lymphoma
Drug induced
What is the adult and childhood presentation of ITP?
Adults slow and insidious onset and chronic. Usually DOESN’T follow infection
Children usually follows viral infection and is SELF LIMITING
What is non-immune DIC
Tissue factor everywhere causing tiny clots everywhere causing multi-organ failure
Uses up platelets elsewhere causing thrombocytopenia
What are the characteristic features of TP?
Non-blanching petechiae
Eccymosis
Mucosal bleeding
CNS bleed
What is the diagnosis of ITP?
FBC, blood smear
Bone marrow biopsy
Only the PLATELET COUNT is abnormal
What is the management of ITP?
AVOID NSAIDs and contact sports
Steroids
IV immunoglobulin
IV anti-D if Rh-ve
Splenectomy if severe acute bleeding or severe chronic bleeding
“Thrombopoietin analogues to stimulate megakaryocytes (ELTROMBOPAG, ROMIPLOSTIM) in chronic pts
What is a Liver failure associated bleeding disorder?
A haemorrhage and prothrombin disorder due to liver failure because this is where the clotting factors etc are formed
What are the 2 types of liver failure deficiencies?
Factor I, II, V, VII, VIII, IX, X, XI
Cholestasis Vit K dept factor deficiency: factor II, VII, IX, X.
What is the classical sign of liver failure bleeding?
Bleeding form abnormal structural lesions such s varies
What are the 2 FBC findings in liver failure bleeding?
Protongued PT and APTT
Decreased fibrinogen
How you going to treat the LFB?
Replacement with FFP and Vitamin K
What is haemorrhage disease of the newborn caused by ?
Immature coagulation systems so low in vitamin K
Vitamin K deficient diet (especially breast)
What is the hallmark of HDofN?
Fatal and incapacitating haemorrhage?
How are we going to prevent the outcome of HDofN?
vitamin K administration to mum PO/IM at birth