Autoimmune Disease Flashcards
When should you consider autoimmune connective tissue
Any unwell patient with multi-organ involvement
Especially if no infection
What is ANA
Tells something is wrong with immune system General Ab screen Sensitive but NOT specific Can occur with MS / infection 30+ of people in health have
When do you test for ANCA
Vasculitis
what is cANCA +Ve in and what is target
Known known as proteinase 3 / PR3 Ab (or target)
Macroscopic vasculitis
Granulomatosis with polyangiitis
What is pANCA +ve in and target
Known known as MPO - myeloperoxidase (or target)
Microscopic vasculitis Churg Strauss Microscopic polyangiitis PSC GN SLE Sjogren RA IBD Autoimmune hepatitis
Is suspecting autoimmune connective tissue disease what is important to do
Specific nuclear antigens / ENA
Specific antigens for SLE
ANA Anti-dsDNA Anti-Ro Anti-SM Low complement Lupus anti-coagulant Anti-phospholipid can be +Ve RF can be +Ve \+Ve DAT
Specific antigens for Sjogren
Anti-Ro
Anti-La
Can be RF +Ve / ANA
Specific antigens for Sclerosis
Anti-centromere in limited
Anti-Scl-70 in diffuse
Ant-RNA pol 1,2,3
Can be ANA / RF +ve
Specific antigens for polymyositis
Anti-Jo1
What antigen if presenting with mixed connective tissue disease
Anti-RNP
Specific antigens for anti-phospholipid
Technically not ENA as not part of nucleus Anti-carpolipin Anti-phospholipid Anti-binding globulin Lupus anti-coagulant
What is important to remember
Ab often overlap
Conditions overlap too
Clinical Hx then support from immunology is important for Dx
How do you investigate autoimmune connective tissue disease
Hx Immunological bloods if specific - ANA + specific ANCA if suspect vasculitis Biopsy = best way to Dx PET may show inflammaiton USS may show vasculitis
CRP doesn’t tend to rise in flares so what does a raised CRP suggest
Sepsis
Synovitis
Serositis (pleurisy / peritonitis)
What are maintenance Rx
NSAID + hydroxychoroquine for joint and skin = most mild
DMARD - Azathioprine / methotrexate = steroid sparing
Biologics - Monoclonal Ab
What is used if mild flare
Mild medications
DMARD - hydroxychloroquine
Low dose steroid
What is used if moderate flare with organ involvement
Add immunosuppression e.g. MMF
+ DMARD
What may be needed in severe flare
High dose steroids
Cyclophosphamide
Rituximab
What do you do if on long term steroid
DEXA
Bone protection with biphosphonates
Increased risk of infection but sometimes patient requires
What is 5 year damage
Nerve damage Malignancy Intersitial lung disease End stage renal CVS disease Osteoporosis Hearing loss
What is severe complications
Haemolytic anaemia
Nephritis
Severe pericarditis or CNS
What annual monitoring is needed to look for complications
Clinic ECHO for pulmonary hypertension PFT for ILD BP Urine dip - look for protein or blood (nephritis or nephrotic) Bloods - FBC, U+E, LFT, CRP, autoimmune
What is SLE (Lupus) and what type of hypersensitive
Autoimmune disease
Ab targeted at double stranded DNA
Type 3 hypersensitivity reaction
Who does it tend to affect / what is associated
YOUNG FEMALE Rare post-menopausal Sjogren Autoimmune thyroid disease Alopecia
What is typical presentation / mnemonic
Relapsing remitting
Joints / Skin / Kidney
Need 4+ to Dx
SOAPBRAIN MD
- Serositis - pleuritic / peri
- Oral painful ulcers
- Arthritis + stiffness
- Photosensitivity
- Blood disorder
- Renal immune complex
- ANA+ve
- Immune- anti-dsDNA
- Neuro
- Malar / butterfly rash
- Discoid rash
How can skin be affected
Malar / butterfly rash Discoid rash Photosensitivity Raynaud's Livedo reticularis - non-blanching pink / blue mottling Alopecia Oral ulcers
How can joints be affected
Joints tend to be less affected than other arthritis
Arthritis symptoms in 2 joints - no X-ray change
Arthralgia
Myalgia
Kidney affected
Lupus nephritis
Proteinuria
Haematuria
GN
What are CVS / resp signs
CVS disease = leading causes of death due to inflammation causing hypertension
Interstitial lung disease
Pulmonary fibrosis
Pleural effusion
Pericarditis / myocarditis / endocarditis
Stroke
What are neuro / psych signs
Stroke CN palsy Optic neuritis Transverse myelitis Neuropathy Seizures Psychosis Depression Anxiety
What are general features
Fatigue Weight loss PUO Lymphadenopathy Oral ulcers Anaemia - normocytic Thrombocytopenia Leucopenia Infections due to immunosuppression drugs
How do you Dx
History Immunological test Bloods Urinanalysis Biopsy - may need renal biopsy or CXR
What is seen on bloods
Low WCC Low platelet Low complement Low Hb - anaemia of chronic disease \+Ve DAT Raised ESR / CRP Raise Ig due to activation of B cells in inflammation
What should always be done
Urine dip
How do you monitor disease
Anti-dsDNA titre Complement level ESR BP Urine - protein / casts Bloods - FBC, U+E, LFT, CRP (usually normal)
What is a malar rash
Butterfly rash
Spares nasolabial folds
What is a discoid rash
Scaly erythematous well demarcated rash Photosensitive so worse with sunlight Sun-exposed area Can be pigmented / hyperkeratotic Associated with scarring alopecia
What is general Rx if Dx
High factor sun block
Hydroxychloroquine unless CI - reduced disease activity
Topical steroids if skin flares
What is maintenance Rx
NSAID (unless renal) + hydroxychloquine - good for joints and skin
Can add azathioprine / methotrexate (steroid sparing)
Biologics if severe
If develop lupus nephritis what may be needed
Intense immunosuppression with steroid
RRT
What drugs can cause a drug induced lupus
Hydralazine = common Procainamide Isoniazid Chloropramazine Phenytoin A nti-TNF
How does it commonly present
Arthralgia Myalgia Skin malaria rash Pleurisy Renal / nervous involvement = uncommon
What Ab
Anti-histone
How do you Rx
Stop drug
What are the three types of systemic sclerosis
Linear
Limited
Diffuse
What is linear
Small patches of tightening of skin (scleroderma)
Can’t pinch
What is limited
Limited skin thickening to face, feet and arms
CREST Syndrome
Anti-centromere
What is CREST
C - calcinosis
R - Raynaud’s (can be 1st sign)
E - oesophageal dysmotility (reflux / dysphagia)
S - sclerodactyl (localised thickening of fingers and toe)
T - telangiectasia
What is diffuse disease
Whole body affected Trunk + proximal limbs Face - Beak nose - Microstomia - Radial furrowing - Jaw and teeth deformity Scl-70 Ab Anti-RNA
Who is affected
Middle aged female
How do you investigate
History Bloods - FBC, U+E Immunological test Urine dip and PCR Ba swallow ECG / ECHO CT
How do you monitor
Annual ECHO to look for pulmonary hypertension
PFT annual
BP + urine
What are complications of limited
Pulmonary hypertension
How do you Rx
Sildenafil - phosphoridertase inhibitor
What are complications of diffuse
Pulmonary fibrosis / ILD = common cause of death Pulmonary hypertension Small bowel overgrowth = diarrhoea Renal crisis Hypertension due to renal fibrosis Arrhythmia Dysphagia Aspiration
What is Sjogren’s
Immune attack on lacrimal and salary glands
Commonly middle aged female
How does Sjogren present
Sicca Sx - dry eyes (keratoconjunctivitis) / mouth Dry mouth = halitosis / dysphagia Bilateral parotid gland enlargement Vaginal dryness Systemic Sx - fatigue / fever Arthralgia Raynaud's Polyneuropathy Purpura Can present with dipsogenic DI as constantly drink water
Other Sx (less common)
Polyarthritis Pulmonary fibrosis Vasculitis Recurrent parotiditis Renal tubular acidosis
How do you Dx and Rx
Dx = Schimmer test = <5mm tears Artificial saliva and tears Pilocarpine to stimulate saliva Vaginal lubricants Hydroxycholorqquine to halt progression
What is seen on histology
Lymphocytic infiltration
Hyper Ig
Low C4
What are complications
Eye infections B cell lymphoma / NHL Neuropathy Vasculitis Purpura ILD Renal tubular acidosis
What conditions can cause an inflammatory myositis
Polymyositis
Dermatomyositis
What are the Sx
Muscle weakness Symmetrical Often proximal so difficulty stairs NOT stiff (full ROM) Myalgia / arthralgia No pain
What are extra-articular features for both
Fever Raynaud's ILD Resp muscle weakness Dysphagia and dysphonia Myocarditis Arrhythmia
Who is affected
Young
M=F
How do you investigate
Muscle enzymes to look for damage - ALT / AST / LDH CK = most important Ab - Anti-Jo1 EMG to look for nerve damage Muscle biopsy = confirms
How do you Rx
Steroids
Immunosuppression if resistant
Hydroxychloroquine if skin involvement
How does polymyositis tend to present
Dysphagia
Dysphonia
Resp weakness
NO SKIN
What can dermatomyositis be caused by
Autoimmune connective tissue
Underlying malignancy - lung / pancreatic/. ovarian / bowel so screen for underlying malignancy e.g. CT
What are skin features
Macular rash
Photosensitivty
Helitrope - peri-orbital violet discolouration
Gottron’s papules - rough red over extensor
Nail fold capillary dilatation
Telangiectasia - peri-ungal
Shawl sign - over shoulder photosensitive rash
Who is affected dermatomyositis
Elderly female
What is anti-phospholipid syndrome
Venous thrombosis - DVT / PE Arterial thrombosis - stroke / MI Recurrent fetal loss Thrombocytopenia Levido reticularis PET Pulmonary hypertension
What can cause
Primary
2 to SLE
How do you Dx
2 episodes of clots or fatal loss + Ab
Anti-phospholipid Ab
Lupus anti-coagulant
Anti-cardolipin
What else in seen in bloods
Rise APTT
Normal PT
Low platelet
How do you Rx
VTE
Warfarin 6 months target INR 2-3
If recurrent event = life long with target 3-4
If arterial
Life long warfarin target 2-3
What do you give if pregnant
LMWH + aspirin
How do you remember complications
CLOTS Coag defect Levido reticularis Obstetric - miscarriage / PET Thrombocytopenia
What is Raynaud’s
Discolouration of fingers in response to cold
Then go blue / red and painful
Due to constriction of vessels
Usually young women and bilateral
Can lead to digital ischaemia (white fingers) / digital ulcers
What suggests underlying connective tissue / autoimmune
>40 Unilateral Rash Presence of Ab Digital ulcer Calcinosis Chillblains
What are secondary causes
Scleroderma RA SLE Leukaemia OCP Cervical rib
How do you Rx
Reassure
Stop smoking
CCB to dilate blood vessels
Other agents if refractory - isoprost / sidenafil
What is Eshler Danlos
AD connective tissue disorder of type III collagen
What are the symptoms
Hypermobility
Recurrent dislocation
Fragile elastic skin
Easily bruising
What are complications
Aortic regurgitation Aortic dissection MVP SAH Retinal streaks
What is Langherhan cell histiocytosis
Rare cancer causing abnormal proliferation of Langherhan cells / histiocytes
Derived from bone marrow and capable of migrating from skin to LN
What are the Sx
Bone pain - skull / femur
Cutaneous nodules
Recurrent otitis media / mastoidits
How do you Dx
X-ray = osteolytic lesions
Electron microscopy
