Connective tissue disorders Flashcards
What is the pathophysiology of SLE?
Anti-nuclear antibodies (ANA) target proteins within the patient’s own nucleus, generating an inflammatory response and leading to SLE
What general features are present in SLE?
Fatigue
Fever
Mouth ulcers
Lymphadenopathy
What skin conditions can occur in SLE?
Malar rash Discoid rash - scaly, erythematous, well-distinguished rash in sun-exposed areas Photosensitivity Raynaud's phenomenon Livedo reticularis Non-scarring alopecia
What MSK conditions can occur in SLE?
Arthralgia
Non-erosive arthritis
What cardiovascular conditions can occur in SLE?
Pericarditis
Myocarditis
What respiratory conditions can occur in SLE?
Pleurisy
Fibrosing alveolitis
What renal conditions can occur in SLE?
Proteinuria
Glomerulonephritis
What neuropsychiatric conditions can occur in SLE?
Anxiety and depression
Psychosis
Seizures
What investigations are used to detect and monitor SLE?
Antibodies: 99% are ANA +ve 20% are RF +ve Anti-dsDNA Anti-Smith Others include anti-U1 RNP, anti-Ro and anti-La
Monitoring:
Inflammatory markers - ESR and CRP
Complement levels - C3, C4
Anti-dsDNA titres used for disease monitor
What treatment is given in SLE?
1st line = NSAIDs, prednisolone, hydroxycholorquine and suncream with sun avoidance for photosensitive malar rash
If resistant or severe SLE: Methotrexate Mycophenolate mofetil Azathioprine Tacrolimus Leflunomide Ciclosporin Biological therapies
What is the WHO classification for lupus nephritis?
Class I = normal kidney
Class II = mesangial glomerulonephritis
Class III = focal and segmental proliferative glomerulonephritis
Class IV = diffuse proliferative glomerulonephritis
Class V = diffuse membranous glomerulonephritis
Class VI = sclerosing glomerulonephritis
What is the most common type of lupus nephritis?
Diffuse proliferative glomerulonephritis
How is lupus nephritis treated?
Treat hypertension
Corticosteroid if clinical evidence of disease
Immunosuppressants e.g. azathioprine/cyclophosphamide
What is the relevance of Ro (SSA) and La (SSB) +vity in pregnancy?
Anti-Ro and Anti-La can cross the placenta and cause neonatal lupus.
This can include a lupus rash, complete heart block and blood abnormalities such as cytopenias
What serious side effect can occur with hydroxychloroquine?
Bull’s eye retinopathy:
May cause severe/permanent visual loss
What acquired disorder, that predisposes patients to venous and arterial thromboses, commonly occurs secondary to SLE?
Antiphospholipid syndrome
What are the features of antiphospholipid syndrome?
Venous/arterial thrombosis
Recurrent fetal loss
Livedo reticularis
Thrombocytopenia
Prolonged APTT - due to reaction of lupus anticoagulant antibodies with phospholipids involved in the coagulation cascade
Elevated antiphospholipid (AP) antibodies
May also have:
Pre-eclampsia
Pulmonary hypertension
What is the management for antiphospholipid syndrome?
Primary thromboprohylaxis:
Low-dose aspirin
Secondary thromboprophylaxis:
Initial VTE event - lifelong warfarin with target INR of 2-3
Recurrent VTE event - lifelong warfarin; if occurred whilst on warfarin then add low-dose aspirin and increase target INR to 3-4
Arterial thrombosis - lifelong warfarin with target INR of 2-3
What features may be present in drug-induced lupus?
Arthralgia
Myalgia
Skin changes (e.g. Malar rash) and lung involvement (e.g. pleurisy) are common
What investigations can be carried out in drug-induced lupus?
ANA +ve in 100%
Anti-dsDNA -ve
Anti-histone antibodies found in 80-90%
Anti-Ro and Anti-Smith +ve in 5%
What drugs can cause drug-induced lupus?
Procainamide Hydralazine Isoniazid Minocycline Phenytoin
What antibody should you look for if suspected antiphospholipid syndrome?
Anti-cardiolipin antibody
What are the features of fibromyalgia?
Usually affects women and presents between 30-50 years old
Chronic pain at multiple sites - 'pain all over' Lethargy Cognitive impairment - 'fibro fog' Sleep disturbance Headaches Dizziness
How is fibromyalgia diagnosed?
Diagnosis is clinical and refers to the American College of Rheumatology (ACR) that lists 9 pairs of tender points on the body. If 11/18 points are tender, then diagnosis of fibromyalgia is more likely
What management is given in fibromyalgia?
Explanation
Exercise
CBT
Medication - pregablin, duloxetine, amitriptyline, tramadol
What are the different patterns of systemic sclerosis?
Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
Scleroderma - tightening and fibrosis of skin without internal organ involvement
What are the features of limited cutaneous systemic sclerosis?
What antibody is this disease associated with?
Scleroderma of face and distal limbs CREST syndrome: Calcinosis Raynauds oEsophageal dysmotility Sclerodactyly Telangiectasia
Associated with anti-centromere antibodies
What are the features of diffuse cutaneous systemic sclerosis?
What antibody is this disease associated with?
Scleroderma of trunk and proximal limbs
ILD and pulmonary hypertension - most common cause of death in this disease
Renal disease
Hypertension
Associated with scl-70 antibodies
What antibodies are present in systemic sclerosis?
ANA +ve in 90%
RF +ve in 30%
Anti-centromere in limited cutaneous
Anti-scl-70 in diffuse cutaneous
What condition is at a greater risk of occurring in Sjogren’s syndrome?
Lymphoid malignancy
What are the features of Sjogren’s syndrome?
Dry eyes Dry mouth Vaginal dryness Arthralgia Raynauds Myalgia
What investigations can be used to diagnose Sjogren’s syndrome?
Antibodies: ANA +ve in 70% RF +ve in 50% Anti-Ro antibodies Anti-La antibodies
Schirmer’s test
Histology - may find focal lymphocytic infiltration
What management is given in Sjogren’s syndrome?
Artificial saliva and tears
Pilocarpine may stimulate saliva production
