Autoimmune conditions Flashcards
What is Systemic lupus erythematosus
- inflammatory autoimmune connective tissue disease
- It presents with varying and non-specific symptom
- more common in women and Asians
- Presents in young and middle ages
- Often takes a relapsing-remitting cause
Prognosis of Systemic lupus erythematosus
- Chronic inflammation of vital organs such as the heart and kidneys can lead to problems
- Cardiovascular disease and infection are leading causes of death.
What is the presentation of Systemic lupus erythematosus
Fatigue Weight loss Arthralgia (joint pain) and non-erosive arthritis Myalgia (muscle pain) Fever Photosensitive malar rash Lymphadenopathy and splenomegaly Shortness of breath Pleuritic chest pain Mouth ulcers Hair loss Raynaud’s phenomenon
What rash is seen in Systemic lupus erythematosus
Photosensitive malar rash. This is a “butterfly” shaped rash across the nose and cheek bones that gets worse with sunlight.
Which antibodies are mostly associated with Systemic lupus erythematosus
- Anti-nuclear antibodies
- Anti-ds-DNA
What is the pathology behind Systemic lupus erythematosus
- Anti-nuclear antibodies targets proteins in the nucleus in the cells
- This generates an inflammatory response leading to many different types of symptoms
What autoantibodies should be looked for if suspected Systemic lupus erythematosus
- anti-nuclear antibodies (ANA) (85%)
- Anti-double stranded DNA (anti-dsDNA): VERY specific (70%)
- Anti-Smith (highly specific to SLE but not very sensitive)
Which antibodies are mostly associated with limited cutaneous systemic sclerosis
Anti-centromere antibodies
Which antibodies are mostly associated with Sjogren’s syndrome
Anti-Ro and Anti-La
Which antibodies are mostly associated with systemic sclerosis
Anti-Scl-70
Which antibodies are mostly associated with dermatomyositis
Anti-Jo-1
How do you diagnose SLE
- SLICC Criteria or the ACR Criteria
- Confirming the presence of antinuclear antibodies and establishing a certain number of clinical features suggestive of SLE.
What are the complications of SLE
- Cardiovascular disease: HTN and CAD
- Infection (due to immunosupression)
- Anaemia of chronic disease: normocytic anaemia (can be pancytopaenic)
- Pericarditis
- Pleuritis
- Lupus nephritis
- Pulmonary fibrosis
- Neuropsychiatric SLE
- Recurrent miscarriage (& other pregnancy complications)
- VTE (anti-phospholipid syndrome)
What is lupus nephritis
- occurs due to inflammation in the kidney
- can progress to end-stage renal failure
- assessed via urine protein:creatinine ratio and renal biopsy
- renal biopsy is often repeated to assess response to treatment.
What is Neuropsychiatric SLE
- caused by inflammation in the central nervous system
- optic neuritis (inflammation of the optic nerve),
- transverse myelitis (inflammation of the spinal cord)
- psychosis.
What is the first line treatment of systemic lupus erythematous
- NSAIDs
- Steroids (prednisolone)
- Hydroxychloroquine (first line for mild SLE)
- Suncream and sun avoidance for the photosensitive the malar rash
In resistant or more severe lupus, what is the second line treatment
- Immunosupression e.g. methotrexate, azothioprine, tacrolimus, ciclosporin
- Biological therapies e.g. rituximab or bulimumab
What is Discoid lupus erythematous
- Non-cancerous chronic skin condition
- Rarely the lesions can progress to squamous cell carcinoma
- increased risk of developing systemic lupus erythematosus
What do discoid lupus erythematous lesions look like
Inflamed Dry Erythematous Patchy Crusty and scaling
What is the management of discoid lupus erythematous
- Skin biopsy confirms diagnosis
- Sun protection
- Topical steroids
- Intralesional steroid injections
- Hydroxychloroquine
What is Sjogren’s syndrome
- autoimmune condition
- affects the exocrine glands
- Leads to dry mucous membranes, such as dry mouth, dry eyes and dry vagina
- Can be primary or secondary (SLE)
What is the Schirmer Test
- folded piece of filter paper under the lower eyelid with a strip hanging out over the eyelid
- left in for 5 minutes and the distance along the strip hanging out that becomes moist is measured
- tears should travel 15mm in a healthy young adult
- A result of less than 10mm is significant.
What is the management of Sjogren’s syndrome
Artificial tears
Artificial saliva
Vaginal lubricants
Hydroxychloroquine is used to halt the progression of the disease.
What systemic affects can Sjogren’s Occasionally have?
Pneumonia and bronciectasis Non-Hodgkins lymphoma Peripheral neuropathy Vasculitis Renal impairment
What eye complications can Sjogren’s cause
conjunctivitis and corneal ulcers
What oral complications can Sjogren’s cause
dental cavities and candida infections
What vaginal compliactions can Sjogren’s cause
candidiasis and sexual dysfunction
What does scleroderma mean
- hardening of the skin
- shiny, tight skin without the normal folds in the skin.
- most notable on the hands and face
What is Systemic sclerosis/scerloderma
- autoimmune inflammatory and fibrotic connective tissue disease
- Cause is unclear
- affects the skin in all areas but it also affects the internal organs.
What are two main patterns of disease in systemic sclerosis:
Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
What is limited cutaeneuos systemic sclerosis/scleroderma
- more limited version of systemic sclerosis
- It used to be called CREST syndrome.
What does CREST stand for
C – Calcinosis R – Raynaud’s phenomenon E – oEsophageal dysmotility S – Sclerodactyly T – Telangiectasia
What id diffuse cutaneous systemic sclerosis/scleroderma
Diffuse cutaneous systemic sclerosis includes the features of CREST syndrome plus many internal organs causing:
- Cardiovascular problems
- Lung problems
- Kidney problems
What cardiovascular problems does diffuse cutaneous systemic sclerosis/scleroderma cause
- HTN
- CAD
What lung problems does diffuse cutaneous systemic sclerosis/scleroderma cause
- pulmonary hypertension
- pulmonary fibrosis.
What renal problems does diffuse cutaneous systemic sclerosis/scleroderma cause
- glomerulonephritis
- scleroderma renal crisis.
What is Sclerodactyly
- As the skin tightens around joints in the hand restricting the ROM and function
- As the skin hardens and tightens further the fat pads on the fingers are lost.
- The skin can break and ulcerate.
What are Telangiectasia
dilated small blood vessels in the skin. They are tiny veins that have dilated. They have a fine, thready appearance.
What is calcinosis
- calcium deposits build up under the skin
- most commonly found on the fingertips.
What is Raynauds phenomenon
- fingertips go completely white and then blue in response to even mild cold
- caused by vasoconstriction of the vessels supplying the fingers.
- commonly occurs without any associated systemic disease, however it is a classical feature of systemic sclerosis.
What causes Oesophageal dysmotility
- connective tissue dysfunction in the oesophagus
- commonly associated with swallowing difficulties, acid reflux and oesophagitis.
What auto-antibodies should you check for if suspecting Systemic sclerosis/scerloderma
- ANA
- Anti-centromere antibodies
- Anti-Scl-70 antibodies
What is the management of systemic sclerosis
- MDT
- Steroids and immunosuppressants are usually started with diffuse disease and complications such as pulmonary fibrosis
- Treatment of symptoms e.g. nifidipine for Raynauds
What non-medical management is advised for systemic sclerosis
- Avoid smoking
- Gentle skin stretching to maintain the range of motion
- Regular emollients
- Avoiding cold triggers for Raynaud’s
- Physiotherapy to maintain healthy joints
- Occupational therapy for adaptations to daily living to cope with limitations
What is polymyositis
An autoimmune condition of chronic inflammation of muscles.
What is dermatomyositis
Autoimmune connective tissue disorder where there is chronic inflammation of the skin and muscles.
What can causes a raised Createnine kinase
- Polymyositis/dermatomyositis
- Rhabdomyolysis
- Acute kidney injury
- Myocardial infarction
- Statins
- Strenuous exercise
What investigations should you complete if suspecting dermatomyositis/polymyositis
Createnine kinase
- <300 U/L. In polymyositis
- > 1000U/L in dermatomyositis
Polymyositis or dermatomyositis can be a result of paraneoplastic syndrome, which cancers is it most associated with
Lung
Breast
Ovarian
Gastric
What is the presentation of dermatomyositis/polymyositis
Muscle pain, fatigue and weakness
Occurs bilaterally and typically affects the proximal muscles
Mostly affects the shoulder and pelvic girdle
Develops over weeks
(Polymyositis occurs without any skin feature)
Dermatomyositis Skin Features
Gottron lesions
- Photosensitive erythematous rash on the back, shoulders and neck
- Purple rash on the face and eyelids
- Periorbital oedema
- Subcutaneous calcinosis (calcium deposits in the subcutaneous tissue)
What are gottron lesions
(scary erythematous patches) on the knuckles, elbows and knees
What autoantibodies should you check for if ? dermatomyositis/polymyositis
Anti-Jo-1 antibodies: polymyositis (but often present in dermatomyositis)
Anti-Mi-2 antibodies: dermatomyositis.
Anti-nuclear antibodies: dermatomyositis.
How is dermatomyositis/polymyositis diagnosed
Clinical presentation Elevated creatine kinase Autoantibodies Electromyography (EMG) Muscle biopsy can be used to establish a definitive diagnosis
What is the management of dermatomyositis/polymyositis
- Guided by rheumatologist
- Assess for underlying cancer
- Physiotherapy and OT
- Corticosteroids first line
When steroids are insufficient management for dermatomyositis/polymyositis what else can be considered
Immunosuppressants (such as azathioprine)
IV immunoglobulins
Biological therapy (such as infliximab or etanercept)
What is Antiphospholipid syndrome
- disorder associated with antiphospholipid antibodies where the blood becomes prone to clotting
- patient is in a hyper-coagulable state
- Can be primary or secondary associated with SLE
Antiphospholipid syndrome is associated with which autoantibodies
Lupus anticoagulant
Anticardiolipin antibodies
Anti-beta-2 glycoprotein I antibodies
What is Anti-phospholipid syndrome associated with
- VTE: DVT/PE
- Arterial thrombosis: Stroke, MI, Renal thrombosis
- Pregnancy complications
- Livedo reticularis
- Libmann-Sacks endocarditis
- Thrombocytopenia (low platelets
What pregnancy complications can you get with anti-phospholipid syndrome
Recurrent miscarriage
Stillbirth
Pre-eclampsia
What is Livedo reticularis
purple lace like rash that gives a mottled appearance to the skin.
what is Libmann-Sacks endocarditis
- non-bacterial endocarditis where there are growths (vegetations) on the valves of the heart
- mitral valve is most commonly affected
- associated with SLE and antiphospholipid syndrome
How is anti-phospholipid syndrome diagnosed
history of thrombosis or pregnancy complication plus persistent antibodies
What is the management of anti-phospholipid syndrome
- Managed by rheumatology, haematology and obstetrics (if pregnant).
- Long term warfarin
- Pregnant women: low molecular weight heparin (e.g. enoxaparin) plus aspirin
What is the INR range in patients with antiphospholipid syndrome
2-3
What is Felty’s syndrome
- RA
- Splenomegaly
- Neutropaenia
What is ankylosing spondylitis
- arthritis mainly affecting the back caused by inflammation
- the body produces extra calcium around the bones of the spine.
- This can make extra bits of bone grow and cause your back and neck to be more stiff.
Symptoms of Ankylosing Spondylitis
- Back pain and stiffness (neck, shoulder, hip)
- Can wake in night
- Morning stiffness
- Eases with exercise
Typical epidemiology of ankylosing Spondylitis
- males (sex ratio 3:1)
- 20-30 years old.
Signs of progressive disease on x ray in ankylosing spondylitis
- sacroiliitis: subchondral erosions, sclerosis
- squaring of lumbar vertebrae
- ‘bamboo spine’ (late & uncommon)
- syndesmophytes: due to ossification of outer fibers of annulus fibrosus
What impact does ankylosing spondylitis have on the lung
- Apical fibrosis
- restrictive spirometry: pulmonary fibrosis, kyphosis and ankylosis of the costovertebral joints
Management of ankylosing spondylitis
- NSAIDs + paracetamol
- Encourage exercise and swimming
- DMARDs: sulfasalazine if peripheral joint involvement
(Anti-TNF)
