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Path Week 2 > I - Autoimmune & Autoinflammatory Diseases > Flashcards

I - Autoimmune & Autoinflammatory Diseases Flashcards

1
Q

what causes auto inflamm or auto immune diseases

A

immunopathology i nthe absence of infection or pathogens

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2
Q

what part of the immune system is involved in auto inflam conditions

A

innate immune response eg neutrophils / macrophages

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3
Q

what part of the immune system is involved in auto immune conditions

A

adaptive immune response eg T / B cells

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4
Q

define auto immune disease

A

activation of aberrant T / C cell responses on primary and secondary lymphoid organs leading to breaking of tolerance with developmental of immune reactivity towards self antigens

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5
Q

what is characteristic of auto immune disease

A

auto ABs

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6
Q

name 4 ways in which DNA can affect proteins involved in the development of auto immune/inflamm conditions

A

genetic predispostion
somatic mutations occuring after conception
epigenetics
micro RNA

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7
Q

name 2 monogenic auto inflamm diseases

A

familial mediterranean fever
TRAPS

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8
Q

name 5 polygenic auto inflamm diseases

A

Crohns
UC
osteoarthritis
GCA
takayasu’s arteritis

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9
Q

are monogenic or polygenic auto inflamm/immune conditions more common

A

polygenic

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10
Q

name 3 mixed pattern diseases (both auto inflamm and immune)

A

axial spondyloarthritis
Psoriatic arthritis
behcet’s syndrome

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11
Q

name some polygenic auto immune conditions

A

rheumatoid arthritis
myasthenia gravis
pernicious anaemia
graves disease
SLE
PBC
ANCA
Goodpastures

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12
Q

name 2 monogenic auto immune diseases

A

ALPS
IPEX

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13
Q

what pathway problem is most common in monogenic auto inflam disease

A

abnormal signalling via cytokine pathways involving TNF alpha or IL1

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14
Q

Sx of monogenic auto inflamm disease

A

periodic fevers
inflam in joints / skin / CNS
high CRP / ESR
mucosal issues

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15
Q

what gene is abhorrent in FMF

A

MEFV

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16
Q

what is the inheritance of FMF

A

AR

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17
Q

who gets Muckle Wells syndrome (mongenic auto inflam)

A

kids

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18
Q

what protein is abhorrent in FMF

A

pyrin

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19
Q

what is the normal function of pyrin that is absent in FMF

A

negative regulator of inflammasome complex

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20
Q

pathogenesis of FMF

A

MEFV gene mutation
MEFV encodes pyrin-marenostrin (usually expressed in neutrophils)
failure to regulate cryopyrin driven activation of neutrophils

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21
Q

PC of FMF

A

periodic fevers for 48-96 hours
abdo pain - peritonitis
chest pain - pleurisy
arthritis
rash

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22
Q

complications of FMF

A

AA amyloidosis (serum amyloid A depositis in kidneys, liver, spleen) –> kidney failure

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23
Q

Ix for FMF & results

A

CRP - HIGH
serum amyloid A - HIGH
MEFV gene mutation

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24
Q

Tx for FMF

A

1st line = colchicine 500mcg bd
2nd line = IL1 blocker and TNF alpha blocker

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25
Q

what causes IPEX

A

abnormality of regulatory T cells due to Foxp3 mutation (needed for CD25+ Treg cells development) –> leads to autoreactive B cells

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26
Q

what causes ALPS

A

abnormality of lymphocyte apoptosis due to FAS pathway mutation –> failure of autoreactive B/T cell apoptosis

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27
Q

Sx of IPEX

A

endocrine Sx - DM, hypothyroidism, eczema, enteropathy (gut inflamm)

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28
Q

Sx of ALPS

A

high lymphocyte number
splenomegaly
large lymph nodes

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29
Q

complication of ALPS

A

lymphoma

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30
Q

are HLA associations stronger in auto inflamm or auto immune diseases

A

auto immune

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31
Q

do you get auto antibodies in auto inflam disease

A

NO

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32
Q

gene defect in Crohns

A

IBD1 gene on Chr 16 (NOD2 aka CARD-15)

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33
Q

what % of Crohns pts have CARD 15

A

30%

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34
Q

what is the increased risk of Crohns with someone with CARD-15 gene mutation

A

1.5 to 3x risk if 1 copy
14-44x risk if 2 copies

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35
Q

pathogenesis of Crohns

A

CARD-15 gene expressed in myeloid cells –> results in failure to clear bacteria leading to inflamm & immune cell activation at sites

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36
Q

Sx of Crohns

A

abdo pain
diarrhoea - blood, mucous, pus
fevers
malaise

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37
Q

Tx of Crohns

A

corticosteroids
anti TNF alpha AB

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38
Q

do you get auto ABs in mixed pattern auto inflam/immune disease

A

NO

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39
Q

what is the heritability of axial spondyloarthritis (aka ank spon)

A

90%

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40
Q

what genes are involved in development of ank spon

A

HLA B27 (50% of risk)
IL23R
ILR2

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41
Q

Sx of ank spon

A

sacroilitis / large joint arthritis
enthesitis
low back pain and stiffness

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42
Q

Tx of ank spon

A

NSAIDs
immunosuppresion - anti TNF alpha and anti IL17

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43
Q

are HLA molecules important in auto immune disease

A

YES

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44
Q

what is the susceptibility allele of goodpastures

A

HLA DR 15

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45
Q

what is the susceptibility allele of Graves disease

A

HLA DR3

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46
Q

what is the susceptibility allele of SLE

A

HLA DR3

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47
Q

what is the susceptibility allele of T1DM

A

HLA DR3/4

48
Q

what is the susceptibility allele of RA

A

HLA DR4

49
Q

name 2 common mutations in polygenic auto immune disease

A

PTPN 22
CTLA4

50
Q

describe the pathway of polygenic auto immune disease

A

genetic polymorphisms –> loss of tolerance –> auto reactive T cells / auto AB formation –> immunopathology

51
Q

what is type 1 hypersensitivity with eg

A

IgE mediated & immediate
eg anaphylaxis

52
Q

what is type 2 hypersensitivity

A

cytotoxic hypersensitivity - antibody reacts with cellular antigen

53
Q

what is type 3 hypersensitivity

A

immune complex hypersensitivity
- AB reacts with soluble antigen to form immune complex

54
Q

what is type 4 hypersensitivity

A

delayed type hypersensitivity
- t cell mediated response

55
Q

name 4 examples of type 2 hypersensitivity

A

goodpastures
pemphigus vulgaris
graves
MG

56
Q

auto AB of goodpastures

A

collagen type 4 of BM

57
Q

auto AB of graves

A

TSH R

58
Q

auto AB of MG

A

ACh R

59
Q

Sx of type 3 hypersensitivity reaction

A

cutaenous vasculitis –> purpura / rash
glomerulonephirits
arthritis

60
Q

give an example of type 3 hypersensitivity reaction

A

SLE

61
Q

autoAB in SLE

A

dsDNA

62
Q

Sx of SLE

A

rash
glomerulonephritis
arthritis

63
Q

example of type 4 hypersensitivity reaction

A

T1DM

64
Q

autoAB in T1DM

A

pancreatic B cell

65
Q

nervous, palpitations, heat intolerance, diarrhoea, exopthalmos. dx?

A

graves

66
Q

what Ig mediates graves

A

IgG

67
Q

can anti TSH R ABs in Graves affect foetus & how

A

YES - cross placenta to cause transient hyperthyroidism

68
Q

lethargic, dry skin and hair, constipation, cold intolerance, fat face. dx?

A

hashimotos

69
Q

auto AB in hashimotos

A

anti TPO / anti thyroglobulin

70
Q

is it useful to test for anti thyroid ABs to diagnose Hasmotos?

A

NO - lots of ppl will have them but not have Hashimotos, so just check TFTs

71
Q

tired, pale, mild numbness of feet. low Vit b12. Dx?

A

pernicious anaemia

72
Q

cause of pernicious anaemia

A

ABs to parietal cells or intrinsic factor
–> no absorption of vit B12

73
Q

Tx of pernicious anaemia

A

B12 injection - not oral as won’t absorb

74
Q

what FBC result is seen in pernicious anaemia

A

macrocytic anaemia

75
Q

anti TTG / anti endomyosial ABs. Dx?

A

coeliac

76
Q

which IBD has the most auto AB and what is the auto AB

A

UC > Crohns
p-anca

77
Q

anti nuclear ABs. Dx?

A

autoimmune hepatitis
PBC

78
Q

anti SM / anti LKM ABs. Dx?

A

AI hepatitis

79
Q

anti mitochondrial ABs. Dx?

A

PBC

80
Q

p-anca ABs. Dx?

A

AI hepatitis
PBC

81
Q

drooping eyelids, weakness, worse at the end of the day. Dx?

A

MG

82
Q

pathogenesis of MG

A

ABs against ACh R
–> failure of nerve depolarisation
–> absence of muscle AP

83
Q

what % of MG pts have anti ACh R ABs

A

75%

84
Q

haemoptysis and AKI. Dx?

A

goodpastures

85
Q

where is the auto AB found in goodpastures

A

lungs /kidneys

86
Q

how is Goodpastures auto AB Ix

A

kidney biopsy with immunoflurescence

87
Q

conditions with p-anca

A

ANCA associated vasculitis
- micrscopic poluyangiitis
- eosinophilic granulomatosis with polyangiitis

88
Q

conditions with c-anca

A

ANCA associate vasculitis
- granulomatosis with polyangiitis

89
Q

what is auto AB in RA

A

anti CCP - citrulinated peptide

90
Q

what non genetic factors increase risk of RA

A

smoking
gum infections (P. gingivalis)

91
Q

what is the specificity of anti CCP ABs to RA

A

95%

92
Q

what is the sensitivity of anti CCP ABs to RA

A

60-70%

93
Q

what is more useful in detection of RA, anti CCP ABs or rheumatoid factor RF

A

anti CCP - more specific

94
Q

generalised arthralgia, particularly small joints of hand. hair falling out. mouth ulcers. butterfly rash. dx?

A

SLE

95
Q

process of SLE formation

A

ABs find to antigen to form immune complexes
complexes deposit in skin / joints / kidneys
immune complexes activate complement
complexes stimulate cells expressing Fc and complement Rs

96
Q

how does immuneflurescence staining of type 2 hypersensitivity (AB mediated) vs type 3 (immune complex) differ

A

type 3 is lumpy, type 2 is smooth

97
Q

what is the normal AB titre

A

1:80

98
Q

specificity of dsDNA ABs in SLE

A

95%

99
Q

sensitivity of dsDNA ABs in SLE

A

60-70%

100
Q

how does dsDNA AB titre relate to disease progression in SLE and what is the use of this

A

high titres = more severe disease
–> good for disease monitoring

101
Q

what does a low complement C4 level represent in SLE

A

active disease

102
Q

what 4 Ix are done for monitoring in SLE

A

anti dsDNA AB
C3 / C4 complement
ESR

103
Q

recurrent thrombosis / miscarriages. Ix? Dx?

A

anti-phospholipid ABs: anti-cardolipin, anti-beta2 glycoprotein 1, lupus anti coagulant
anti-phospholipid syndrome

104
Q

dry eyes, dry mouth, enlarged parotid gland. Dx?

A

Sjogrens

105
Q

complication of sjogrens

A

MALT lymphomas

106
Q

ABs for Sjogrens

A

anti nuclear AB
anti Ro / La

107
Q

Sx for limited cutaneous systemic sclerosis

A

CREST
- calcinosis
- raynauds
- esophageal dysmotility
- sclerodactyly
- telangectasia

108
Q

assoication of limited cutaneous systemic sclerosis

A

primary pulmonary HTN

109
Q

which is worse, limited cutaneous or diffuse systemic sclerosis & why

A

diffuse
- get kidney crises

110
Q

auto ABs for limited cutaneous / diffuse systemic sclerosis

A

limited cutaneous = anti-centromere
diffuse = anti-topoisomerase

111
Q

rash characteristic of dermatomyositis

A

helitrope rash on knees / forehead

112
Q

contrast dermatomyositis with polymyositis

A

dermato = skin involved, CD4
poly = no skin involved, CD8

113
Q

AB for dermatomyositis

A

ANA

114
Q

what enzyme is cANCA associated with

A

proteinase 3

115
Q

what enzyme is pANCA associated with

A

myeloperoxidase

116
Q

which small vessel vascultiis is associated with cANCA

A

GPA

117
Q

which small vessel vascultiis is associated with pANCA

A

MPA and EGPA

Path Week 2 (18 decks)

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