Multi System Disease Flashcards
(129 cards)
1
Q
What is an autoimmune disease?
A
A normal immune response to the wrong target in a genetically predisposed individual
2
Q
Give 6 examples of organ specific aCTDs
A
Hashimotos Thyroiditis T1DM Anti-GBM disease Bullous phegmoid Myasthenia Gravis Pernicious anaemia
3
Q
Give 9 examples of systemic aCTDs
A
SLE Systemic sclerosis Sjorgens syndrome Polymyositis Dermatomyositis Mixed CTD ANCA associated vasculitis IBD Psoriasis
4
Q
What bedside investigations should always be done in a patient with aCTD?
A
RENAL function - urinalysis, BP
Obs - temp, sats
5
Q
What blood tests should always be done in a patient with aCTD?
A
FBC, CRP, ESR, autoantibodies
6
Q
Anti-La/Ro?
A
Sjorgens syndrome
7
Q
Anti-cardiolipin?
A
Antiphospholipid syndrome
8
Q
Anti-Jo1?
A
Polymyositis/dermatomyositis
9
Q
pANCA for MPO?
A
Microscopic polyangitis
Eosinophilic polyangitis with granulomas
10
Q
cANCA for RP3?
A
Granulomatous polyangitis
11
Q
dsDNA?
A
SLE
12
Q
Anti-RNP?
A
Mixed CTD
13
Q
Anti-Scl70?
A
Diffuse systemic sclerosis
14
Q
Anticentromere?
A
Limited systemic sclerosis
15
Q
Anti-Sm?
A
SLE
16
Q
Why is the titre important to measure?
A
It is the amount of times you can dilute a serum and still get the antibody - it is important as we all have some antibody in our serum
17
Q
What are the DDs of aCTD?
A
Pain syndrome - fibromyalgia, chronic fatigue syndrome
Malignancy
Infection
Degenerative disoerder
18
Q
How are ANA patterns identified?
A
Immunoassay or indirect fluorescent antibody
19
Q
Homogenous ANA?
A
SLE
20
Q
Speckled ANA?
A
SLE, MixedCTD, systemic sclerosis, sjorgens, RA
21
Q
Nucleolar ANA?
A
Systemic sclerosis (scleroderma + crest), polymyositis
22
Q
Centremere ANA?
A
Scleroderma, CREST
23
Q
What is the pathology of SLE?
A
Polyclonal B cell secretion of pathogenic autoantibodies causes tissue damage via immune complex deposition and complement activation
24
Q
Describe a typical history of a patient with SLE
A
- Young, female, afrocarribbean/asian
- Relapsing remitting
- Non specific features - malaise, weight loss, fever, sweats
- Specific features - malar/discoid rash, photosensitivity, alopecia, oral ulcer, non-erosive arthritis, raynauds, serositis, renal dysfunction, seizures, myalgia, vasculitis
25
What would blood tests of an SLE patient look like?
FBC - anaemia, neutropenia, thrombocytopenia, raised ESR, low complement, normal CRP
Autoantibodies - ANA, dsDNA, anti-Sm
Also might have:
HLAb8/DR2/3
EBV - precipitant
Bchrom - antihistone antibodies (drug induced)
26
What would biopsy show in a patient with SLE?
```
LE cell (macrophage that has engulfed another cell)
False positive test for syphillis (VDRL)
```
27
Which drugs can cause SLE?
Minocycline, procainamide, sulphasalazine, antiepileptics, Anti-TNFa drugs
28
What is systemic sclerosis?
Autoimmune and vascular dysfunction, leading to fibrosis and small vessel occlusion
29
Describe the features of diffuse SS
Raynauds, skin thickening, digital ulcers, ILD, GI, renal cardiac complications
30
What autoantibodies are present in diffuse SS?
Anti-Scl70, RNA polymerase III
31
Describe the features of limited SS
```
CREST syndrome
Calcinosis
Raynauds
Esophageal (GI involvement)
Sclerodactly
Telangectasia
```
Skin involvement limited to hands, feet and head.
Also associated with pulmonary HTN, fibrotic lung disease and mild GI disease
32
Which SS is related with:
a) pulmonary HTN
b) ILD
c) telangectasia
d) cardiac complications
a) limited
b) diffuse
c) limited
d) diffuse
33
What autoantibodies are present in limited SS
Anticentromere
34
What investigations should be done in a patient with SS and why?
```
Urine dip/BP - renal
Nail fold capillaroscopy - nail changes
CXR - fibrosis, ILD
PFTs - restrictive in ILD
HRCT - pulmonary htn
Serial echo/BNP - diffuse cardiac involvement
OGD - GI involvement
```
35
What are the 3 phases of Raynauds?
White - vasoconstriction
Blue - cyanosis
Red - rapid blood reflow
36
What causes Raynauds?
SS, SLE, MCTD, DM, PM, RA, sjorgens, vasculitis
37
What exacerbates Raynauds?
Cold, female, smoking, polycythemia, hypercholesterolaemia
38
What is the most worrying complication of diffuse SS?
RENAL CRISIS - hypertension, rapidly deteriorating function, pulmonary oedema, seizures
39
What a)precipitates and b)protects a renal crisis?
a) steroids
| b) ACEis
40
What is localised scleroderma?
aka Morphea
This is scleroderma which only has skin and dermal involvement. It can has several forms:
- Linear morphea --> line of thickened skin
- Coup de sabre --> morphea on the forehead
41
What is Sjorgens Syndrome?
Chronic inflammatory disorder involving lymphatic infiltration and fibrosis of exocrine glands, causing 'sicca' symptoms. This can be primary or secondary (eg. to RA)
42
What are the symptoms of Sjorgens?
```
Dry eyes - gritty, red
Dry mouth - ulcers, swelling
Vaginal dryness
Dry cough
Dysphagia
Arthralgia
Fatigue
```
43
What investigations should be done in a patient with suspected Sjorgens?
Autoantibodies - Anti-Ro/La, ANA, RF
Bloods - ESR, immunoglobulins
Imaging - parotid gland biopsy
Special - Schimers tear test, salivary flow, gland biopsy
44
What does an anti-Ro antibody indicate and why is it dangerous?
Indicates skin involvement.
| This antibody can cross the placenta to the baby and cause fetal heart block
45
What is the most worrying complication of Sjorgens syndrome?
Increased risk of NHL and MALT, need to monitor
46
What is the mechanism behind polymyositis and dermatomyositis?
Inflammatory myopathies involving striated muscle inflammation, with insidious onset.
47
What are the features of an inflammatory myositis?
Muscle weakness, symmetrical and affecting proximal limbs first
Insidious onset but may progress rapidly
Often spares ocular muscles
Often there are few other CTD features except ILD, but systemic features include fever, weight loss, morning stiffness
48
What are the characteristic cutaneous manifestations of someone with dermatomyositis?
Gottrons papules (lichenoid), flagelate, shawl sign, purple rash on eyelides with oedema, dilated capillary nail fold loops, subcutaneous calcifications
49
What blood tests should be done in a patient with suspected dermatomyositis/polymyositis?
Antibodies - Anti-Jo1 (PM), AntiMi2 (dermo), antisynthetase syndrome, nucleolar ANA
Bloods - CK, LDH, AST, ALT raised (muscle enzymes)
50
What would EMG, MRI and muscle biopsy show for a patient with PM/DM?
EMG - characteristic fibrillation potentials
MRI - oedema
Muscle biopsy - endomysial infiltrates
51
What investigation confirms the diagnosis of PM/DM?
Muscle biopsy - shows endomysial infiltrates
52
What is the most worrying complication of DM?
Malignancy
53
What causes elevated CK?
- Statins
- Long lie (rhabdomyolysis)
- DM/PM
- Hypothyroidism
- MI
54
In which cases would an elevated CK prompt you to do a muscle biopsy?
1. Abnormal EMG
3. CK 3x the upper limit of normal
4. Age<25
5. Exercise intolerance
55
What is a mixed connective tissue disease?
Mixture of RA, SLE, myositis and systemic sclerosis
56
What are the key features of a mixed CTD?
Pulmonary HTN and erosive arthritis
57
What investigation confirms mixed CTD?
Anti-RNP antibody
58
What is antiphospholipid syndrome?
An acquired autoimmune disorder in which antiphospholipid antibodies cause hypercoagubility and recurrent thrombosis
59
What are the main features of a antiphospholipid history?
```
CLOT
Coagulation defect
Livedo reticularis
Obstetric
Thrombocytopenia
```
They also may have Libman-Sacks valvulopathy, MI, amaurosis fugax, retinal thrombosis, adrenal infarction, and renal complications
60
How is APL syndrome diagnosed?
Need at least 1 clinical and 1 lab:
CLINICAL - history of vascular thrombosis OR pregnancy morbidity
LAB - elevated IgG/IgM/anticardiolipin/antib2GP1 OR lupus anticoagulant
61
How is antiphospholipid syndrome managed?
Low dose aspirin/warfarin
Pregnancy advice
Dont prescribe COCP
62
How are aCTDs managed generally?
```
Severe flares - cyclophosphamide
Rash - topical steroids
Joint pains - hydroxychloroquinine
Renal - immunosuppression and BP control
New treatment - interferons/interleukins
```
63
What pre pregnancy planning do people with aCTDs require?
- Obstetrician + rheumatologist led
- Screening for Ro/La and foetal cardiac scan if present
- Antibody testing in those with lupus
64
What management do people with aCTDs require during pregnancy?
LOW DOSE aspirin, and prednisolone for flare ups
65
Which patients may be advised against pregnancy altogheter?
- Active disease
- Stage 4/5 CKD
- Pulmonary HTN
66
Which DMARDS should be withdrawn in pregnancy?
Mycophenate, cyclophosphamide, methotrexate
67
Which DMARDS should be withdrawn in an SLE pregnancy?
Hydroxychloroquinine
68
Which DMARDS are safe in pregnancy?
Azathioprine, IVIG
69
Is rituximab safe in pregnancy?
Yes in 1st trim
| Causes B cell depletion in 2nd/3rd trim
70
What causes livedo reticularis?
Pink/blue mottling of skin from dilation and stasis due to:
- APL syndrome
- RA
- SLE
- TB
- Renal cell carcinoma
71
What is the pathophysiology of large vessel vasculitis?
Inflammatory disorder involving destruction or stenosis of the aorta, subclavian, carotid, pulmonary and coronary arteries.
eg. in aorta, damage causes loss of elastic recoil and slows blood movement
72
What is the most common vasculitis in the UK?
Giant Cell Arteritis
73
What is the epidemiology of GCA?
More common in females, northern europeans, >50
74
What are the cranial and systemic symptoms of GCA?
Cranial - headache, scalp tenderness, neck ache, jaw/tongue claudication, polymyalgia (shoulder/hip), visual symptoms
Systemic - fever, weight loss, limb claudication, abdo pain, HTN
75
What should the initial management of GCA be?
Take ESR and start on prednisolone immediately. Do further investigations within 7 days
76
What would initial investigations show for someone with GCA?
BLOODS - Raised ESR/CRP, normocytic anaemia, thrombo/neutrophilia, increased ALP
IMAGING - TA USS, PET/CT
SPECIAL - temporal artery biopsy
77
What is the gold standard investigation for GCA and what would it show?
Temporal artery biopsy - shows giant multinucleate cells and disrupted elastic lamina
78
What would TA USS show for GCA?
Black halo sign, abnormal blood flow
79
Sometimes patients have GCA without a headache. How would they present?
PUO, weight loss, arm pain, thoracic aneurysm, posterior stroke
80
If a patient with GCA complains of eye symptoms how should they be managed?
REFER TO OPTHALMOLOGY IMMEDIATELY
81
What are the symptoms of anterior arteritis ischamic optic neuropathy?
Unilateral visual loss, amaurosis fugax, RAPD, decreased colour vision
- diffuse pale disc swelling, haemorrhage, cotton wool spots
82
How should AAION be managed?
Admit, IV methylprednisolone for 3 days
83
Which is the most common GCA eye complication?
AAION
84
What are the symptoms of posterior arteritis ischaemic optic neuropathy?
Unilateral visual loss, amaurosis fugax, RAPD, decreased colour vision
- haemorrhage, cotton wool spots, NO NERVE HEAD SWELLING
85
What are the symptoms of slow flow retinopathy?
Dim vision, pixellation, worse with bright lights -like claudication in the eyes
- haemorrhage, cotton wool spots
86
What are the symptoms of central retinal artery occlusion?
Amaurosis fugax, visual loss, RAPD
| - cherry red spot, bright fovea
87
What are the symptoms of cilioretinal artery occlusion?
SECTORAL visual loss, sudden onset
88
What are the symptoms of cranial nerve palsies?
Double vision, ophthalmoplegia, aniscoria due to compromised blood supply to extra ocular muscles
89
What are the ocular side effects of steroids?
Cataracts, increased ICP, worsening infection or worsening diabetic retinopathy
90
What is the main cause of death from GCA?
Steroid side effects
91
What is Takayusus Arteritis and what are the symptoms?
A large vessel vasculitis, causing joint pain fvere, dizziness, claudication, PUO and hypertension.
More likely to get aneurysms, aortic involvement
92
What is the epidemiology of TA?
<55, female, japanese
93
What would investigations be done in a patient with suspected TA?
BLOODS - Increased ESR/CRP/acute phase reactants
| IMAGING - CTA, MRI, doppler USS, CT, PET
94
How is TA treated?
Prednisolone, cylophosphamide, tociluzimab, endovascular surgery (if inactive disease)
95
What are the complications of TA?
Aortic valve regurgitation
Aortic aneurysm
Ischaemic stroke
96
What is the pathophysiology of s/m vessel vasculitis?
Inflammation and fibrinoid necrosis of the blood vessel wall with impairment of blood flow and thrombosis
97
What are the cutaneous manifestations of s/m vessel vasculitis?
Livedo reticularis
Palpable, purpuric rash
Ulceration and gangrene
Painful nodules
98
What are the ocular manifestations of s/m vessel vasculitis?
Episcleritis - tenderness
| Scleromalacia - thinning of the cornea revealing the pigment undeneath
99
What are the MSK manifestations of s/m vessel vasculitis?
Arthralgia
Myalgia
Weakness
(milder than RA for example)
100
What are the abdo manifestations of s/m vessel vaculitis?
Pain
Diarrhoea
Blood loss
101
What are the neuro manifestations of s/m vessel vasculitis?
Peripheral neuropathy
Mononeuritis multiplex
Transverse myelitis - inflammed spinal cord
102
What are the chest/cardiac manifestations of s/m vessel vasculitis?
Chest pain
SOB
Haemoptysis
Crackles and wheeze
103
What are the ENT manifestations of s/m vessel vasculitis?
Crusting
Hoarseness
Nasal collapse
Stridor
104
What investigations should be considered in a pt with suspected S/MVV?
Bedside - Urine dip, PFTs
Bloods - ANCA, FBC, CRP, ESR, infection screen
Imaging - CXR, HRCT, CT sinus, MRI muscles, EMG
Biopsy - if unsure about diagnosis
105
What is the pathology and features of granulomatous polyangitis (Wegeners)?
Necrotising granulomatous inflammation that particularly concentrates in the UPPER RESP TRACT, LUNG and the KIDNEYS.
There are two subtypes:
- Systemic/vasculitic
- Localised/granulomatous (only 5% remain in this state)
106
What are the characteristic autoantibodies for granulomatous polyangitis?
cANCA against PR3
107
What is the pathology and features of Microscopic polyangitis?
Necrotising vasculitis of small vessels, causing rapidly progressive glomerulonephritis, pulmonary haemorrhage and near and GI complications, with PALPABLE PURPURA
108
What are the characteristic investigation findings in microscopic polyangitis?
pANCA for MPO, urinary red cell casts, dysmorphic RBCs
109
What is the pathology and features of eosinophilic granulomatosus with polyangitis (aka Churg-Strauss)
Necrotising vasculitis with granulomas and eosinophilic necrosis causing LATE ONSET ASTHMA
110
What are the characteristic investigation findings in Churg Strauss?
Eosinophils on biopsy - tomatoes in sunglasses
| pANCA for MPO (but not as much as the other)
111
What is the pathology and features of polyarteritis nodosa?
Necrotising vasculitis causing aneurysms and thrombosis in medium arteries, leading to infarction in affected vessels
Symptoms include renal, GI and ocular complications
112
What are the characteristic investigation findings in polyarteritis nodosa?
High WCC,CRP, ESR
May have Hep B virology as this can be a driver
ANCA negative
113
What is the pathology and features of HSP?
Post viral small vessel vasculitis, presenting with purpura on buttocks and extensor surfaces, arthralgia and abdo pain
114
How is HSP diagnosed and treated?
Clinically - self limiting illness
115
What are some secondary causes of small vessel vasculitis?
```
Rheumatological - SLE, RA, Sjorgens
Drugs - hydrazine, propylthiouracil
Malignancy - haematological, paraneoplastic
Infection:
- direct damage - strep/staph/syphillis
- immune complex formation - HIV, HepB/C
```
116
How would HepC small vessel vasculitis present?
Vasculitis that only comes on in cold conditions
117
What are the principles of treatment of small vessel vasculitis?
Induce remission - cyclophosphamide, steroids, rituximab
Maintenance - methotrexate, azathioprine
Treat relapses - rituximab
Treat severe cases - plasma exchange
Also need to keep BP under control to avoid renal complications
118
What is the initial sign of vasculitis?
Purpuric rash
- this can become purple with yellow inside if it blisters
- it can then become black edge if it ulcerates
119
What is leucocytoclastic vasculitis?
Type III hypersensitivity allergic vasculitis
120
What is pyoderma gangrenosum?
Deep ulcerating lesion with violet border, associated with vasculitis and IBD
121
How should pyoderma gangrenous be managed?
Do biopsy from ulcer margin and culture from tissue then treat with steroids and ciclosporin
122
What is erythema nodosum?
Painful blue/red raised lesions on the shins, due to infection, sarcoidosis, IBD.
123
What are the signs of large vessel vasculitis?
Claudication
Absent pulses
Bruits
Assymetric BP
124
What are the signs of medium vessel vasculitis?
Livedo reticularis
Gangrene/ulceration
Mononeuritis multiplex
Microaneurysms
125
What are the signs of small vessel vasculitis?
Purpura
Glomerulonephritis
Alveolar haemorrhage
Eye/ENT involvement
126
What are the characteristics of sarcoidosis? What would blood tests show?
Erythema nodosum
Arthralgia
Bilateral hilar lymphadenopathy
Raised serum ACE
127
What are the features of Paget's disease?
Disorder of bone modelling causing constant remodelling:
- Skull changes
- Bowed tibia
- Sensorineural deafness
- Bone pain
- Lytic lesions on xray
128
A patient has the 'itchiest rash of their life'. accompanied by diarrhoea and constipation. What is the likely diagnosis and how should it be investigated?
Dermatitis hepatiformis, associated with Coeliac disease
129
A patient has increased urinary frequency and an erythematous, itchy scaly rash. What investigation should be done?
Blood glucose - this is describing necrobiosis lipodicum which is associated with diabetes mellitus
NB a skin biopsy would be diagnostic but initial investigations should include blood glucose
