Disease Profiles: Connective Tissue Diseases Flashcards by Evie Brown

What features would you expect to see on a lip gland biopsy of a patient with Sjogren syndrome?

Lymphocytic infiltrates

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Which blood test value is decreased in anti-phospholipid syndrome?

Thrombocytopenia

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Describe the typical symptoms of Sjogren syndrome

Dry eyes and mouth, vaginal dryness, joint pains, fatigue

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Which antibodies indicate Sjogren syndrome?

Anti-Ro, anti-La

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Which type of hypersensitivity reaction causes damage to tissues in SLE?

Type III - immune complex formation, complement activation and cytokine release

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Define scleroderma renal crisis

Uncontrolled hypertension with proteinuria and rapidly worsening renal function, often occurs early in disease (presenting feature)

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What is the first line management for Raynaud’s (other than avoiding cold)?

CCBs

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How would you treat an SLE patient with severe organ disease (e.g. lupus nephritis, CNS lupus)?

IV steroids and cyclophosphamide

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How would you manage a patient with Sjogren syndrome?

Symptomatic control e.g. tear and salivary replacement, analgesia

Hydroxychloroquine for arthralgia and fatigue

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Which blood test value is increased in anti-phospholipid syndrome?

aPTT (partial thromboplastin time)

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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

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How would you manage a patient with anti-phospholipid syndrome who is experiencing recurrent pregnancy loss?

LMWH and aspirin

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Which complement components have a particular association with renal and haematological disease in SLE?

(Decreased) C3 and C4

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Describe the common cutaneous manifestations of SLE

Malar rash, photosensitivity, non-scarring alopecia, oral/nasal ulcers, Raynauds

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Which antibody is found in most patients with a connective tissue disease?

ANA

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What causes anti-phospholipid syndrome?

Can be primary (idiopathic) or secondary to SLE or another rheumatic/autoimmune disorder

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What is livedo reticularis?

Blood clots in capillaries lead to swelling of venules, resulting in a purplish, net-like discoloration of the skin

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Which cutaneous feature is associated with antiphospholipid antibodies?

Livedo reticularis

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Which disease of bone are SLE patients at increased risk of?

Avascular necrosis

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In APS, what do the anti-phospholipid antibodies react against?

Proteins that bind to anionic phospholipids on plasma membranes

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What is Jaccouds arthropathy?

Non-erosive reversible joint disorder that can occur after repeated bouts of arthritis, occurs in 10-35% of SLE patients

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How should you monitor a patient with SLE?

Anti-dsDNA and complement

Urine dipstick

BP and cholesterol (due to increased CVD risk)

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What is diffuse systemic sclerosis?

Skin changes develop rapidly and can involve the trunk

There is early significant organ involvement

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How would you treat an SLE patient with mild-moderate disease (skin disease, arthralgia)?

Hydroxychloroquine, short course NSAIDs for symptomatic control, steroids (IA/topical)

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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?

1. Immunosuppression e.g. mycophenolate mofetil, cyclophosphamide 2. Rituximab 3. 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