Abnormalities of Homeostasis Flashcards

1
Q

Broadly speaking, what are the two causes of abnormal haemostasis?

A

Lack of a specific factor

Defective function of a specific factor

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2
Q

What can cause thrombocytopenia?

A

Failure of production – bone marrow failure e.g. leukaemia, B12 deficiency

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3
Q

State one very common cause of thrombocytopenia.

A

Autoimmune thrombocytopenia

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4
Q

What is a distinctive clinical feature of thrombocytopenia?

A

Petechiae

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5
Q

State three hereditary platelet defects.

A

Glanzmann’s Thrombasthenia
Bernard Soulier Syndrome
Storage Pool Disease

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6
Q

Broadly speaking, state three causes of thrombocytopenia.

A

Failure of platelet production by the megakaryocytes
Shortened half-life of platelets
Increased pooling of platelets in an enlarged spleen (hypersplenism)

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7
Q

State a broad acquired cause of impaired platelet function.

A

Drugs e.g. NSAIDs, clopidogrel

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8
Q

What are the two roles of von Willebrand factor in haemostasis?

A

Binding to collagen and trapping platelets

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9
Q

Von Willebrand Disease is usually hereditary. What are the threetypes of von Willebrand disease? State their pattern of inheritance.

A

Type 1 – deficiency of VWF but it functions normally (autosomal dominant)
Type 2 – VWF does not function normally (autosomal dominant)
Type 3 – VWF not made at all (autosomal recessive)

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10
Q

State two inherited vessel wall conditions that cause defects in primary haemostasis.

A

Hereditary haemorrhagic telangiectasia

Ehlers-Danlos Syndrome

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11
Q

State some acquired causes of vessel wall conditions that cause defects in primary haemostasis.

A

Scurvy
Steroid therapy
Ageing
Vasculitis

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12
Q

Describe the pattern of bleeding in defects of primary haemostasis.

A
The primary platelet plug isn’t strong enough to stop the bleeding  
Bleeding is immediate
Prolonged from cuts  
Epistaxes  
Gum bleeding  
Menorrhagia  
Easy bruising  
Prolonged bleeding after trauma and surgery
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13
Q

How are the clotting factors affected in severe von Willebrand disease?

A

Reduced factor 8 (because VWF stabilizes factor 8)

This causes haemophilia type bleeding patterns

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14
Q

What tests can be done for disorders of primary haemostasis?

A

Platelet count
Bleeding time
Assays for VWF
Clinical observation

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15
Q

What is haemophilia caused by?

What is its pattern of inheritance?

A

Lack of Factor 8 (A) or Factor 9 (B)
This leads to impaired thrombin generation
In haemophilia you get failure to generate fibrin to stabilize the platelet plug
It is X-linked recessive

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16
Q

Describe the difference in outcome for deficiencies of factors 2, 8 & 9, 11 and 12.

A

2 – lethal
8 & 9 (haemophilia) – severe but compatible with life
11 – bleeding after trauma but not spontaneously
12 – no excess bleeding

17
Q

State some acquired causes of deficiency of coagulation factors.

A

Liver disease
Dilution
Anti-coagulant drugs

18
Q

State some disorders of coagulation that are due to increased consumption.

A

Disseminated intravascular coagulation

Autoimmune thrombocytopenia

19
Q

What happens in Disseminated Intravascular Coagulation (DIC)?

A

Generalised activation of coagulation
It is associated with sepsis, inflammation and tissue necrosis
It consumes and depletes coagulation factors
Platelets are consumed

20
Q

Describe the pattern of bleeding in coagulation disorders.

A

Superficial cuts DO NOT bleed (because primary haemostasis is fine)
Bruising is common
Spontaneous bleeding is DEEP, into muscles and joints
Bleeding after trauma may be delayed and prolonged
Frequently restarts after stopping

21
Q

What is the hallmark of haemophilia?

A

Haemarthrosis

22
Q

What simple medical procedure must you avoid doing to patients with haemophilia?

A

Intramuscular injection – it can cause deep bleeding patterns

23
Q

State some tests that are used for coagulation disorders.

A

Screening Tests – APTT, PT & Platelet Count
Factor Assays
Tests for inhibitors

24
Q

Describe the APTT and PT results for a patient with haemophilia.

A

Prolongs APTT but normal PT

This is because the defect lies in the intrinsic pathway (factor 8 or 9)

25
Q

State some bleeding disorders that are not detected by routine clotting tests.

A
Mild factor deficiencies  
Von Willebrand Disease  
Factor 8 Deficiency (cross-linking) 
Platelet disorders  
Excessive fibrinolysis  
Vessel wall disorders  
Metabolic disorders (e.g. uraemia) 
NOTE: urea interferes with platelet function
26
Q

State a hereditary disorder of fibrinolysis.

A

Antiplasmin deficiency

27
Q

State two acquired disorders of fibrinolysis.

A

Drugs such as tissue plasminogen activator

Disseminated intravascular coagulation (DIC) – because everything has been used up

28
Q

What is the treatment that is considered for a patient whose abnormal haemostasis is caused by immune destruction of platelets?

A

Immunosuppression (e.g. prednisolone)

29
Q

Factor concentrates are available for all factors except which one?

A

Factor V

30
Q

Describe the use of Desmopressin (DDAVP) in von Willebrand disease.

A

Desmopressin makes the endothelial cells release their stored VWF
This is good for people with mild von Willebrand disease (as it releases endogenous stored of VWF)

31
Q

State two other drugs that are used as haemostatic treatments.

A
Tranexemic acid (inhibits fibrinolysis) 
Fibrin glue
32
Q

What is Glanzmann’s Thrombasthenia

A

absence of GlpIIb/IIIa (prevents platelet aggregation)

33
Q

What is Bernard Soulier Syndrome

A

absence of GlpIb (prevents binding to von Willebrand factor)

34
Q

What is Storage Pool Disease

A

storage granules are not able to release adequately