Disease Profiles: Connective Tissue Diseases Flashcards
What features would you expect to see on a lip gland biopsy of a patient with Sjogren syndrome?
Lymphocytic infiltrates
Which blood test value is decreased in anti-phospholipid syndrome?
Thrombocytopenia
Describe the typical symptoms of Sjogren syndrome
Dry eyes and mouth, vaginal dryness, joint pains, fatigue
Which antibodies indicate Sjogren syndrome?
Anti-Ro, anti-La
Which type of hypersensitivity reaction causes damage to tissues in SLE?
Type III - immune complex formation, complement activation and cytokine release
Define scleroderma renal crisis
Uncontrolled hypertension with proteinuria and rapidly worsening renal function, often occurs early in disease (presenting feature)
What is the first line management for Raynaud’s (other than avoiding cold)?
CCBs
How would you treat an SLE patient with severe organ disease (e.g. lupus nephritis, CNS lupus)?
IV steroids and cyclophosphamide
How would you manage a patient with Sjogren syndrome?
Symptomatic control e.g. tear and salivary replacement, analgesia
Hydroxychloroquine for arthralgia and fatigue
Which blood test value is increased in anti-phospholipid syndrome?
aPTT (partial thromboplastin time)
Which antibodies are associated with venous arterial thrombosis and recurrent miscarriage (antiphospholipid syndrome, can be secondary to SLE )?
Antiphospholipid antibodies (APLS) - lupus anticoagulant, anti-cardiolipin antibodies, anti-beta-2 glycoprotein 1 antibodies
How would you manage a patient with anti-phospholipid syndrome who is experiencing recurrent pregnancy loss?
LMWH and aspirin
Which complement components have a particular association with renal and haematological disease in SLE?
(Decreased) C3 and C4
Describe the common cutaneous manifestations of SLE
Malar rash, photosensitivity, non-scarring alopecia, oral/nasal ulcers, Raynauds
Which antibody is found in most patients with a connective tissue disease?
ANA
What causes anti-phospholipid syndrome?
Can be primary (idiopathic) or secondary to SLE or another rheumatic/autoimmune disorder
What is livedo reticularis?
Blood clots in capillaries lead to swelling of venules, resulting in a purplish, net-like discoloration of the skin
Which cutaneous feature is associated with antiphospholipid antibodies?
Livedo reticularis
Which disease of bone are SLE patients at increased risk of?
Avascular necrosis
In APS, what do the anti-phospholipid antibodies react against?
Proteins that bind to anionic phospholipids on plasma membranes
What is Jaccouds arthropathy?
Non-erosive reversible joint disorder that can occur after repeated bouts of arthritis, occurs in 10-35% of SLE patients
How should you monitor a patient with SLE?
Anti-dsDNA and complement
Urine dipstick
BP and cholesterol (due to increased CVD risk)
What is diffuse systemic sclerosis?
Skin changes develop rapidly and can involve the trunk
There is early significant organ involvement
How would you treat an SLE patient with mild-moderate disease (skin disease, arthralgia)?
Hydroxychloroquine, short course NSAIDs for symptomatic control, steroids (IA/topical)
What is catastrophic anti-phospholipid syndrome?
Rare form of APS involving multi organ infarctions over a period of days to weeks, often fatal
Which patient group does systemic sclerosis most commonly occur in?
Women 30-50 years
How can systemic sclerosis affect the face?
‘Beaked’ nose, puckered lips, lack of wrinkles
Define mixed connective tissue disease
Uncommon, specifically defined condition which features symptoms also seen in other connective tissue diseases - Raynauds, arthralgia/arthritis, myositis, sclerodactyly, pulmonary hypertension, ILD
What is the first line management for pulmonary hypertension in a systemic sclerosis patient?
PDE-5 inhibitor e.g. sildenafil
Which antibody is present in 60% of lupus patients and is highly specific?
anti-dsDNA
Which patient group does SLE most commonly occur in?
Women 20-40, especially in women of Afro-Caribbean, Hispanic American, Asian, and Chinese ethnicity
Define subacute cutaneous lupus
Small erythematous lesions on neck, shoulders and forearms; accounts for 10% of cases of SLE
Unexplained increase in dental caries is a possible sign for which disease?
Sjogren syndrome
Leukopenia, thrombocytopenia and haemolytic anaemia commonly occur in which disease?
SLE
Name the antibody that if present in mother can be associated with neonatal lupus and congenital heart risk for baby
Anti-Ro
Which antibody is associated with limited systemic sclerosis?
Anti-centromere antibody
Bilateral enlargement of which gland is a sign of Sjogren syndrome?
Parotid
How would you manage pulmonary hypertension in a systemic sclerosis patient?
- Immunosuppression e.g. mycophenolate mofetil, cyclophosphamide
- Rituximab
- Nintedanib (antifibrotic)
Name the three factors which predispose to SLE
Genetic predisposition (HLA genes), hormonal factors (↑ oestrogen), environmental factors (e.g. infection, some medications)
What is limited systemic sclerosis?
Skin involvement confined to face, hands, forearms and feet
Organ involvement tends to occur later
Describe the cutaneous manifestations of systemic sclerosis
Thickening and hardening of the skin, sclerodactyly, digital ulcers
Describe the arterial manifestations of anti-phospholipid syndrome
Increased frequency of stroke or MI
How would you treat a patient with systemic sclerosis who has recurrent digital ulcers?
Endothelin receptor antagonist (bosentan)
In SLE, what does low complement levels indicate?
Active disease - activation and consumption related to disease activity
Which medication increases the risk of a renal crisis in a systemic sclerosis patient?
Steriods
Describe the musculoskeletal manifestations of SLE
Arthritis of 2+ joints with 30 mins morning stiffness, arthralgia, myalgia
What is Systemic Lupus Erythematosus (SLE)?
Systemic autoimmune condition that mainly involves the skin, joints, kidneys, blood cells and nervous system but can affect almost any organ system
How would you manage skin fibrosis in a systemic sclerosis patient?
Mycophenolate or methotrexate
What causes systemic sclerosis?
Chronic inflammation results in vascular damage and tissue fibrosis
What is the diagnostic criteria for SLE?
≳4 critera (at least 1 clinical and 1 lab critera) OR biopsy-proven lupus nephritis with positive ANA or anti-DNA
Which rheumatic autoimmune disease is associated with a photosensitive rash, particularly a malar rash?
SLE
Describe the vascular manifestations of systemic sclerosis
Raynaud’s phenomenon - on exposure to cold, fingers go white, then blue, then red
What lifestyle changes would you suggest for a patient with SLE?
Sun protection measures
What causes autoimmunity in SLE?
Loss of immune regulation results in increased and defective apoptosis; the nuclear materials released from the necrotic cells act as auto-antigens
How would you treat an SLE patient with unresponsive disease?
IV immunoglobin, rituximab
What is the percentage chance that a patient with discoid lupus erthematosus will develop SLE?
10-15%
How can anti-phospholipid syndrome affect pregnancy?
Late spontaneous miscarriage is common, recurrent early fatal loss is also possible
What causes Raynaud’s phenomenon?
Vascular spasms that reduce the blood supply to the fingers, usually when the hands get cold
Which antibodies are associated with anti-phospholipid syndrome?
Lupus anticoagulant, anti-cardiolipin antibodies and anti-beta 2 glycoprotein
Describe the non-specific manifestations of systemic sclerosis
Fatigue, weakness, joint pain and stiffness
Name the antibody which is highly specific for lupus but only positive in ~30% of patients
Anti-Smith
Which investigation should be performed to confirm lupus nephritis after a positive urine dip stick?
Kidney biopsy
How would you manage GI involvement in a systemic sclerosis patient?
PPIs
Which antibody is associated with lupus nephritis?
anti-dsDNA
Which antibody is associated with fibrosis complications in diffuse systemic sclerosis?
Anti-topoisomerase (SCL-7)
How should patients with systemic sclerosis be monitored?
Echo for pulmonary hypertension
PFTs, then high res CT if needed, for pulmonary fibrosis
Which antibody is associated with scleroderma renal crisis?
Anti RNA polymerase III
Which antibody is associated with mixed connective tissue disease?
Anti-RNP
What is Sjogren syndrome?
Chronic inflammatory autoimmune disease that occurs mainly in middle aged women, characterised by lymphocytic infiltrates in exocrine organs
What is Schirmers test?
Test for ocular dryness used to investigate Sjogren syndrome
Which antibodies are associated with diffuse systemic sclerosis?
Anti-SLC-50 and anti-RNA polymerase III
How would you treat an SLE patient with moderate-severe disease (inflammatory arthritis or organ involvement)?
Hydroxychloroquine, immunosuppressants or short course oral steroids to induce remission in acute flares, treat organ complications appropriately
When would you consider additional immunosuppression (other than HCQ) in a patient with Sjogren syndrome?
If there is organ involvement e.g. interstitial lung disease
Why should you always perform a urine dip stick in any patient with suspected SLE?
Anti-dsDNA antibodies are toxic to the kidney - can cause lupus nephritis
What is systemic sclerosis?
Systemic connective tissue autoimmune disease characterised by vasculopathy, autoimmunity and fibrosis
Describe the venous manifestations of anti-phospholipid syndrome
DVT/PE, recurrent PE can cause pulmonary hypertension, livedo reticularis
Which form of malignancy are patients with Sjorgen syndrome at increased risk of?
Lymphoma
What is anti-phospholipid syndrome?
Autoimmune disorder that manifests clinically as recurrent venous or arterial thrombosis and/or fetal loss
Define discoid lupus erthematosus
Erythematous raised scaling plaques with active inflammation triggered by UV light exposure
What causes Sjogren syndrome?
Can be primary disease (unknown cause) or secondary to e.g. RA, SLE
How would you manage a patient with anti-phospholipid syndrome?
If thrombosis - anticoagulation (acute and prophylaxis)
If never had thrombosis - no anticoagulation
How would you treat a renal crisis in a systemic sclerosis patient?
ACEi, sometimes dialysis
Which patient group does Sjogren syndrome most commonly occur in?
Middle aged females
Why is it rare to treat only skin fibrosis in a systemic sclerosis patient?
Progressive skin fibrosis is usually a marker of progressive lung fibrosis
