Diseases of Blood Plasma

Question 1

What is a decreased / increased number of RBCs called?

Answer 1

Anaemia / Erythrocytosis

Question 2

What is a decreased / increased number of WBCs (leukocytes) called?

Answer 2

Leukopenia / Leucocytosis

Question 3

What is a decreased /increased number of platelets called?

Answer 3

Thrombocytopenia / Thrombocytosis or Thrombocythemia

Question 4

How does a Vitamin K deficiency lead to bleeding?

Answer 4

Required to produce coagulation factors

Question 5

How does liver disease lead to bleeding?

Answer 5

Liver produces clotting factors required for coagulation

Question 6

How can infection/sepsis lead to bleeding?

Answer 6

Microthrombotic response - all of coagulation factors used up

Question 7

What are the diseases of blood plasma?

Answer 7

Bleeding, thrombosis, hereditary angioedema, complement deficiency

Question 8

What are the 7 major causes of thrombosis?

Answer 8

1. Atherosclerosis
2. Cancer
3. Immobilisation
4. Surgery
5. Hypercoagulability
6. Thrombocythaemia
7. Factor V Leiden

Question 9

How can atherosclerosis lead to thrombosis?

Answer 9

Deposition of lipids particularly in form of lipoproteins in areas of arterial wall –> plaque ruptures which drives thrombus formation

Question 10

What is thrombosis?

Answer 10

Local coagulation or clotting of the blood in a part of the circulatory system

Question 11

What is hyper coagulability? What is it caused by?

Answer 11

An abnormality of blood coagulation that increases risk of thrombosis

Caused by inhibitor deficiency (antithrombin, protein C, protein S)

Question 12

What is hereditary angioedema caused by? What does it lead to?

Answer 12

Deficiency of C1 inhibitor

Leads to uncontrolled complement activation - swelling in face and neck

Question 13

What is the complement system?

Answer 13

A part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and attack the pathogen’s cell membrane

Question 14

What can a complement deficiency lead to?

Answer 14

Not enough complement activity - increased susceptibility to infection

Question 15

What would a prolonged APTT and low levels of factor 8 indicate a diagnosis of?

Answer 15

Haemophilia A

Question 16

What is the typical inheritance pattern for haemophilia A?

Answer 16

Inherited as an X-linked recessive trait, though there are cases which arise from spontaneous mutations.

Question 17

What is angiodema?

Answer 17

An area of swelling of the lower layer of skin and tissue just under the skin or mucous membranes. The swelling may occur in the face, tongue, larynx, abdomen, or arms and leg.

Question 18

The release of what 2 chemicals can trigger angiodema?

Answer 18

Histamine or bradykinin

Question 19

Where does swelling from histamine-mediated angioedema tend to occur?

Answer 19

Swelling can occur at any site of the body, predilection for the facial area, particularly the lips and periorbital area

Question 20

How can histamine-mediated angiodema be treated?

Answer 20

Anti-histamines

Question 21

What is histamine typically released by?

Answer 21

Mast cells after exposure to an allergen

Question 22

What is non-histamine mediated angioedema related to?

Answer 22

Bradykinin

Question 23

How can bradykinin lead to angiodema?

Answer 23

Is a vasodilator that triggers blood vessels to widen and become more permeable, leading to swelling.

Question 24

What is bradykinin-mediated angiodema sometimes a side effect of?

Answer 24

Medication for high blood pressure, including ACE inhibitors

Question 25

What enzyme is bradykinin controlled by?

Answer 25

C1-inhibitor - deficiency of this can lead to angiodema

Question 26

What does deficiency of C-1 inhibitor lead to?

Answer 26

Uncontrolled bradykinin activation –> episodes of angiodema

Question 27

How can bradykinin-mediated angiodema be treated?

Answer 27

• Bradykinin receptor inhibitor

- C1 inhibitor replacement

Question 28

What else should be investigated in cases of angiodema?

Answer 28

Allergies (e.g. nuts, bee/wasp venom)

Question 29

IgG 2.3 g/l (6-16)
IgA >0.06 g/l (0.8-4)
IgM 0.1 g/l (0.5-2)

Inadequate levels of anti-pneumococcal Ab

Low levels of memory B cells, normal T cell numbers

What would diagnosis be?

Answer 29

Common variable immunodeficiency

Question 30

What is common variable immunodeficiency?

Answer 30

An antibody deficiency that leaves the immune system unable to defend against bacteria and viruses, resulting in recurrent and often severe infections primarily affecting the ears, sinuses, and respiratory tract.