Haem- other

Question 1

what is pancytopenia

Answer 1

a deficiency of blood cells of all lineages (generally excludes lymphocytes)

Question 2

is pancytopenia a diagnosis?

Answer 2

NO- reflects a diagnosis

Question 3

causes of pancytopenia

Answer 3

reduced production
OR
increase destruction

Question 4

causes of reduced production of blood cells

Answer 4

bone marrow failure- acquired/inherited/secondary

Question 5

Inherited marrow failure syndrome- Fanconi’s anaemia CF

Answer 5

short stature
skin pigment abnormalities
hypogenitillia
endocrinopathies
GI
CVS
renal
haematological

Question 6

skin change in Fanconi’s anaemia

Answer 6

cafe au lait spots- flat, light to dark brown patches on the skin

Question 7

what is idiopathic aplastic anaemia

Answer 7

autoimmune attack against haemopoioetic stem cells

Question 8

what are myelodysplastic syndromes

Answer 8

increased apoptosis of progenitor and mature cells, propensity for evolution into AML

Question 9

secondary bone marrow failure- drug induced examples

Answer 9

chemotherapy
alcohol
azathioprine
methotrexate

Question 10

causes of increased destruction of blood cells

Answer 10

hypersplenism

Question 11

causes of hypersplenism

Answer 11

splenic congestion- portal hypertension
systemic diseases- RA
haematological diseases- splenic lymphoma

Question 12

what is amyloidosis

Answer 12

disorder characterised by extracellular deposits of misfolded proteins

Question 13

what is the average age of diagnosed patients with amyloidosis

Answer 13

65 years
fewer than 10% of patients are under 50

Question 14

most common type of systemic amyloidosis in developed countries

Answer 14

AL amyloidosis (light chain)

Question 15

what causes AL amyloidosis

Answer 15

production of abnormal immunoglobulin light chains from plasma cells- light cells enter bloodstream and cause amyloid deposits

Question 16

what organs are commonly affected in AL amyloidosis

Answer 16

heart
bowel
skin
nerves
kidneys

Question 17

what is AA amyloidosis associated with

Answer 17

systemic inflammation

Question 18

what protein is overproduced in AA amyloidosis

Answer 18

serum amyloid A protein, an acute phase protein

Question 19

What percentage of patients with chronic inflammatory or infectious conditions develop AA amyloidosis?

Answer 19

5%

Question 20

what are some inflammatory diseases associated with AA amyloidosis

Answer 20

RA
IBD
psoriasis

Question 21

what are some chronic infections associated with AA amyloidosis

Answer 21

TB
osteomyelitis
bronchiectasis

Question 22

what organs are most commonly affected in AA amyloidosis

Answer 22

liver
spleen
kidneys
adrenals

Question 23

most common presenting symptoms of amyloidosis

Answer 23

weakness
dyspnoea

Question 24

what is the most frequently affected organ system in amyloidosis

Answer 24

renal system (kidneys)

Question 25

how often is the heart involved in amyloidosis at diagnosis

Answer 25

more than 50% of patients

Question 26

what heart condition does amyloidosis commonly cause

Answer 26

restrictive cardiomyopathy

Question 27

what nervous system issues may be seen in amyloidosis

Answer 27

peripheral neuropathy autonomic neuropathy

Question 28

what are some hepatosplenic manifestations of amyloidosis

Answer 28

hepatomegaly splenomegaly deranged liver function tests

Question 29

what GI symptom is associated with amyloidosis

Answer 29

malabsorption

Question 30

what is the gold standard test for confirming amyloidosis

Answer 30

organ biopsy (commonly renal)

Question 31

what special stain is used in biopsy to detect amyloid deposits

Answer 31

congo red stain

Question 32

what is the characterised appearance of amyloid under polarised light

Answer 32

green apple befringence

Question 33

what biopsy sites can be used if renal biopsy is not possible/inconclusive

Answer 33

abdominal fat pad rectal biopsy

Question 34

management of AL amyloidosis

Answer 34

immunosuppression- steroids, chemo, stem cell transplant

Question 35

main adverse prognostic factor of amyloidosis

Answer 35

presence and severity of amyloid heart disease