multisystem disease Flashcards
(140 cards)
1
Q
pathophysiology of autoimmune connective tissue disease?
A
immune response against self antigen, producing antibodies, immune complexes and cellular activity against self-tissue.
2
Q
common history complaints of someone with an aCTD
A
fatigue, anorexia, fever, weight loss
skin changes/rashes, joint paints, muscle pains, dry eyes/mouth, sicca symptoms, raynauds phenomenon
3
Q
what are sicca symptoms
A
dry eyes, dry mouth, conjunctivities, episcleritis, vaginal dryness
4
Q
what can be seen on examination of someone with aCTD
A
rash, joint pain, pigmentation, alopecia, endocarditis
5
Q
what are some aCTDs
A
SLE, antiphospholipid syndrome, systemic sclerosis, polymyositis/myositis, dermatomyositis, mixed CTD
6
Q
how does SLE happen
A
failure to clear apoptosed cells, leaving remnants that are ingested by APC who then trigger lymphocyte production of antibodies against self tissue. along with failure of self-regulation, inflammatory state and immune-complex deposition, causes multisystem disease.
7
Q
systems that can be affected in SLE
A
CNS, eyes, mouth, joints, skin, heart, lungs, GI, kidneys, vasculature, blood
8
Q
what are some CNS symptoms in SLE
A
psychosis, confusion, hemiplegia, ataxia, cranial nerve lesions, fits
9
Q
what are some eye symptoms in SLE
A
dry eyes, scleritis, episcleritis, conjunctivitis, optic neuritis
10
Q
what are some mouth symptoms in SLE
A
mouth ulcers, dry mouth
11
Q
what are some joint symptoms in SLE
A
joint pains, muscle pains,
12
Q
what are some GI symptoms in SLE
A
mesenteric vasculitis
13
Q
what are some skin symptoms in SLE
A
lupus erythema discoid lupus raynauds phenomenon photosensitive rash butterfly rash livedo
14
Q
what are some cardiovascular signs in SLE
A
percarditis
endocarditis
aortic valve lesions
15
Q
what are some vascular signs in SLE
A
livedo
raynauds
nail and finger tip lesions
16
Q
what are some kidney signs in SLE
A
glomerulonephritis, Proteinuria, haematuria, AKI
17
Q
what are some haematological signs of SLE
A
lymphopenia, neutropenia, thrombocytopenia,
anaemia of chronic dz or haemolytic anaemia
low C3, C4
raised ESR (but often normal CRP)
auto antibodies
18
Q
what are some lung complications of SLE
A
restrictive lung disease raised hemidiaphrams - "shrinking lung" pleural effusions (exudative) pneumonitis
19
Q
is the pleural effusion in SLE transudative or exudative?
A
exudative
20
Q
what are the antibodies associated with SLE?
A
anti-dsDNA anti-Sm anti-ro anti-la anti-histone (drug induced SLE) anti RNP
21
Q
what auto antibody if seen, is specific to SLE?
A
anti-smith
22
Q
what is the most commonly seen auto antibody in lupus?
A
anti dsDNA
23
Q
what auto antibodies produce a ‘speckled’ sign on immunohistochemistry
A
anti-RO anti-LA, SCL-70, and RNA polymerase III
24
Q
what auto antibody is associated with drug induced SLE?
A
anti-histone
25
what will ESR and CRP be like in SLE?
high ESR, normal CRP
26
what can be seen on histology in SLE?
immune-complex deposition in skin and/or kidneys
27
what does a false +ve VDRL suggest
SLE
28
what are some life threatening complications of SLE
renal crisis
pulmonary haemorrhage
catastrophic antiphospholipid
29
what coagulation syndrome is associated with SLE ?
anti-phospholipid syndrome
30
what antibodies are associate with antiphospolipid syndrome?
lupus coagulant
anti-cardiolipin
anti-b2GP
31
what is the behaviour of lupus coagulant? in vitro/vivo
in vitro it is antocoagulative
| in vivo it is prothrombotic
32
what is anti-cardiolipin associated with
antiphospholipid syndrome
33
what syndrome is associated with lupus anticoagulant?
antiphospholipid syndrome
34
how will antiphospholipid syndrome affect pregnancy?
recurrent miscarriages
35
what can be seen on bone marrow biopsy in SLE?
lupus erythema cell (LE cell)
36
what is more worrying of SLE - 1:80 ANA titre found in a 22 year old, or 1:80 ANA titre found in a 79 year old?
the younger patient.
37
pathphysiology of systemic sclerosis
endothelial damage leading to immune/inflammatory response, leading to cellular infiltration which causes more damage, ischaemia. also activation of fibroblasts
38
who is the pathophysiology of fibrosis in systemic sclerosis
inflammation activates fibroblasts which produces more collagen, causing fibrosis in lower dermis and internal organs
39
common clinical features of systemic sclerosis
```
raynauds phenomenon
lung disease - pulm H/T and/or fibrosis
skin tightening - fingers, arms, face, neck
GI dysfunction - dysphagia
dilated nail capillary loops
```
40
how to tell between limited cutaenous Sc and diffused cutanaeous Sc
LcSSc is associated with CREST syndrome. more pulm hypertension, skin sclerosis usually distal to elbows, less systemic symptoms
DcSSc is more associated with fibrotic lung disease, systemic symptoms (fatigue, anorexia, weight loss), more widespread organ involvement, renal impairment, edema, more severe skin sclerosis that can lead to ulceration
41
difference in autoantibodies found in LcSSc and DcSSc
LcSSc is associated with anti-centromere antibodies
DsSSc is associated with antiSCL70 and antipolymerase
42
what are auto antibodies are found in systemic sclerosis?
rheumatoid factor (30%) and ANA (95%)
43
how to investigate systemic sclerosis?
FBC - Nchr Ncyt anaemia, or haemolytic microangiopathy in renal involvement
U&Es, urine dip, microscopy, ACR
autoantibody testing
nail fold capilloscopy
pulmonary function test
ECHO, BNP
imaging - CXR, xray hands, HRCT, barium swallow/OGD
44
explain what can be found on imaging in systemic sclerosis
CXR - heart enlargement, lung disease
xray hands - calcinosis
HRCT - fibrotic lung disease
barium swallow/OGD - oesophageal dysmotility
45
U&Es are always derranged in systemic sclerosis - T or F?
F, only if renal involvement
46
what is anti-topoisomerase antibody AKA?
anti-scl70
47
which auto antibody is associated with pulmonary hypertension?
anti RNA polymerase antibody
48
complications of systemic sclerosis?
pulmonary function
renal function
erectile dysfunction
GI dysfunction
49
why is pulmonary function testing indicated in systemic sclerosis?
monitoring of fibrotic lung disease
50
what is CREST syndrome?
```
calcinosis
raynauds
esophageal dysmotility
sclerodactyly
telangeictasia
```
51
what is morphea and when is it seen?
localised scleroderma - thickening of skin due to increased collagen production
52
symptoms of sjogrens syndrome
sicca
fatigue
joint involvement
renal tubular acidosis
53
how does sicca symptoms present
dry eyes
dry mouth/throat - coughing
dry vagina
54
what cancer is sjogrens associated with
non-hodgkins lymphoma
55
what antibodies is sjogrens syndrome associated with
ANA
rheumatoid factor
anti Ro, anti LA
56
how to investigate sjogrens syndrome
```
auto antibodies
ESR (raised)
complement (low)
immunoglobulins (raised)
schirmer's tear test (test how much tears produced)
salivary flow test (reduced)
parotid and mandibular gland USS
lip biopsy (can see inflammation)
```
57
how to tell the difference between myalgia secondary to an autoimmune disease VS primary inflammatory myositis?
secondary mylagia usually doesn't cause weakness, and will have normal muscle enzymes (CK, LDH)
myositis will cause muscle weakness, and raised CK and LDH, usually proximal muscles
58
clinical features of polymyositis
insidious onset with systemic symptoms (tiredness, weight loss. anorexia, fevers)
muscle weakness and pain (proximal)
59
describe the course of muscle weakness in polymyositis
starts with proximal weakness, then pain, usually shoulder and pelvis, in later stages, can involvement pharynx, larynx causing dysphonia/dysphagia, then respiratory muscles become affected causing respiratory failure
60
facial and hand muscles are not commonly involved in polymyositis - T or F
T
61
what is dermatomyositis associated with
cancer
62
what are signs of dermatomyositis
myositis + skin involvement
```
gottron's papules
shawl sign (photosensitive rash)
heliotropic rash (around eyes)
```
periorbital edema
63
what are gottron's papules
purplish/red lichenoid rash around fingers, knucles, extensor surfaces
64
how to investigate (dermato/poly)myositis
bloods - commonly raised ESR/CRP, muscle enzymes (CKD, LDH, Trop T). autoantibodies
EMG, MRI, muscle biopsy
cancer screen in dermatomyositis
65
what autoantibodies are commonly found in polymyositis
ANA
| anti-Jo-1
66
why is having sjogrens in pregnancy dangerous for the fetus?
sjogrens is associated with anti-Ro antibodies which can cross the placenta to cause heart blocks
67
pathogenesis of antiphospholipid syndrome?
antiphospholipid antibodies bind to a protein which causes inhibition of protein C. protein C is a anticoagulation protein (cleaves factor 5). without which, the system will become prothrombotic
68
how can antiphospholipid syndrome present?
any clotting event - DVT, stroke, PE
| recurrent miscarriages
69
what is a skin sign of antiphospholipid syndrome
livedo
70
what are the 2 associated antibodies in antiphospholipid syndrome
anti-cardiolipin
| lupus anticoagulant
71
what pregnancy conditions are women more at risk at if they have an aCTD?
preeclampsia, eclampsia, fetal growth restriction, preterm delivery.
72
what should be done if a woman with aCTD wants to get pregnant
planning, counselling, disease remission for 6 months before trying.
73
what should be prescribed prophylactically if someone has an aCTD and is pregnant
low dose aspirin
74
what DMARDs are safe in pregnancy?
hydroxychloroquine, azathioprine, methylprednisolone, rituximab in 1st trimester.
75
why might a woman with SLE give birth to a baby with rashes
could be neonatal lupus - self limiting
76
what autoantibody is mixed CTD associated with
anti-RNP
77
what conditions is mixed CTD more associated with
joint erosions
| pulmonary hypertension
78
what is anti-Jo-1 associated with
myositis
79
what conditions can be seen in mixed CTD
rheumatoid arthritis
SLE
scleroderma
myositis
80
why might someone with dry eyes also complain of a cough?
(sjogrens) dry mouth/throat can cause chronic cough
81
why might someone with sjogrens complain of swollen lymph nodes?
could be lymphoma
82
which auto antibodies give a homogenous picture on Immunofluorescence?
anti-dsDNA
| anti-histone
83
pathophysiology of giant cell arteritis?
granulomatous inflammation of large arteries
84
clinical features of PMR
```
pain shoulder, hips, lumbar, neck (worse in morning)
systemic symptoms (fever, tiredness, weight loss, anorexia)
```
85
who gets PMR?
usually >50 and female
86
investigations to do in PMR?
FBC (CRP, ESR raised, normochromic normocytic anaemia)
raised alk phos and GGT (acute phase reactants)
temporal artery biopsy if indicated
87
signs/symptoms of giant cell arteritis
severe headache
scalp tenderness
eye symptoms
jaw claudication
88
what are some occular complications u can get with giant cell arteritis ?
amurosis fugax
blurred vision
diplopia
permanent loss of viseion
89
what will be seen on a histological biopsy in affected giant cell arteritis
T cell, macrophage, granulomatous inflammation. +/- giant cell
90
what imaging should be done in someone with GCA?
serial CXR to monitor for AA/AD
91
what kind of vasculitis is polyarteritis nodosa?
medium sized vessels
92
who gets polyarteritis nodosa
middle aged men
93
clinical features of polyarteritis nodosa?
```
systemic symptoms
mononeuritis multiplex
abdominal pain
GI bleeding
acute/chronic renal failure
cardiac (mi, pericarditis, heart failure)
skin (purpura, livedo, gangrene)
```
94
investigations in polyarteritis nodosa?
```
FBC (anaemia, raised esr, raised wcc)
U&Es
ECG
aniogram
biopsy
investigation of any affected organ
```
95
what is the pathophysiology of a vasculitis?
a trigger causing endothelial damage, causing immune response towards endothelium of vessels, creating antibody-immune complex deposition onto endothelium, causing inflammation and imune destruction of endothelium, causing damage to vessels leading ischaemia, necrosis, gangrene
96
common symptoms of small vessel vasculitides
systemic symptoms - fever, weight loss, fatigue, myalgia, arthralgia
eye involvement - scleritis, scleromalacia
ENT - sinusitis, epistaxis, nose collapse, stridor
mucus membranes - genitooral ulcers
skin - rash, livedo, purpura, ulceration, necrosis, gangrene
pulmonary - lung haemorrhage, haemoptysis, chest pain, crackles, wheeze
kidney - AKI/chronic kidney disease
abdo - pain, bloody stools, obstruction
97
difference between GPA and MPA
GPA is more associated with C-ANCA, MPA is more associated with P-ANCA
GPA tends to be more diffused and multisystemic
MPA tends to involve kidneys more
98
what is the classical presentation of EGPA
late onset asthma with no prior hx of atopy
99
what is HSP
henoch schoenlein purpura
rash, arthalgia, abdo pain, with possible AKI
100
what is important to be done in HSP
urine dipstick, kidney involvement testing
101
which ANCA antibody is HSP associated with?
none
102
small vasculitic purpuric rashes vs one bigger vasculitic lesion, which is more serious?
the bigger patch, because it indicates a larger vessel involvement
103
how to tell the difference between a vasculitic purpura VS a thrombotic purpura?
vasculitis involves inflammation which will cause the lesions to be raised - palpable
104
what does a blue/purple edge of a lesions indicate?
vasculitis, due to start of necrosis
105
causes of raynauds ?
primary = idiopathic
secondary: SLE, SSC, dermatomyositis/polymyositis, sjogrens, RA, mCTD, takayasu's arteritis, some drugs
106
what are some drugs that can cause raynauds
beta blockers, cytotoxic drugs (e.g. bleomycin), sulfasalazine
107
what does unilateral raynauds imply?
localised vascular problem
108
what HLA gene is antiphospholipid syndrome associated with?
HLA-DR7
109
what is the pathophysiology of livedo reticularis?
blocking/obstruction/constriction of capillaries
110
what are some autoimmune causes of livedo?
SLE, dermatomyositis, rheumatoid arthritis, polyarteritis nodosa
111
what are some vascular causes of livedo?
antiphospholipid syndrome
thrombocytosis
polycythaemia
cryoglobulinaemia
112
what is mononeuritis multiplex?
neuropathy of multiple individual nerve trunks
113
what can cause mononeuritis multiplex
diabetes
autoimmune: SLE, RA
vascular: GPA, MPG, polyarteritis nodosa
114
what hand signs can be seen in Graves disease?
thyroid acropatchy
115
what is the pattern of rashes seen in porphyria?
sun exposed areas - blistering, scarring, fragility
116
which type of porphyria does not exhibit skin signs?
acute intermittent porphyria
117
which dyslipidaemia condition is tendon xanthoma associated with
familiar hypercholesterolaemia
118
what underlying condition is eruptive xanthoma associated with?
hypertriglyceridaemia
119
how to tell the difference between a common viral rash and a rash caused by varicella?
common viral rashes are caused by e.g. measles, they diffused and erythematous, macula papular.
varicella rashes are raised vesicles with umbilication and monomorphic i.e all the same size
120
what is a sign of primary syphillis infection?
painless chancres at site of infection (mouth, anus, vagina)
121
what is the secondary sign of syphilis infection
coppery brown rash on the palms and soles
122
how does lyme disease present?
after tick bite, erythema migrans (red patch), that then becomes an annular rash around the bite
123
what are 2 skin manifestations of IBD?
erythema nodosum and pyoderma grangrenosum
124
describe erythema nodosum
erythematous painful nodules usually found on the legs caused my inflammation in fats
125
what is the rash exhibited in reactive arthritis?
PPPP - palmar plantar pustular psoriasis. or keratoderma blenorrhagica
126
what other symptoms can be found along side keratoderma blenorrahgica?
urethritis, conjunctivitis, arthritis
127
what are the symptoms found in behcet's syndrome
orogenital ulcers, pyoderma, pathergy, uveitis
128
what inflammatory condition canpathergy be associated with?
Behcet's disease
129
what conditions are associated with dilated nail fold capillaries?
raynauds phenomenon
systemic sclerosis
polymyositis/dermatomyositis
mixed CTD
130
what condition is associated with a sun-exposed geographical shape ring-like rash?
subacute lupus
131
what condition is associated with beaking of the nose, small tight mouth and telangectasia?
systemic sclerosis
132
clinical featurs of scurvy ?
corkscrew hairs, perifollicular haemorrhages (small red petichiae), bleeding gums
133
what are lisch nodules and what are they associated with?
brown streaks around the iris, associated with neurofibromatosis
134
are lymphocytes raised or reduced in SLE?
reduced
135
what ENT signs can be seen in small vessel vasculitis?
sinusitis, collapsed nose, epistaxis
136
what is the triad found in lofgren's syndrome? and what is it?
erythema nodosum, bilateral perihilar lymphadenopathy, arthralgia
137
which patient is more worrying, a 19 year old with raynauds or a 52 year old with raynuds?
the 52 year old. the younger the patient presenting with raynauds, the more likely it is to be primary raynouds with no associated conditions. but the older presentation would be more likely to be associated with other autoimmune conditions e.g. SSc or dermatomyositis
138
what is the difference on examination of between reactive lymphadenopathy and malignant lymphandenopathy?
reactive LNs are more mobile lumps compared to malignant LNs which are more rubbery
139
what is erythema migrans associated with?
tick bite, lyme disease
140
what autoimmune condition is associated with dysphagia, dysphonia and loss of finger pulp tissue?
systemic sclerosis
