Connective Tissue Diseases Flashcards
What are connective tissue diseases
They are characterised as a group by the presence of spontaneous over activity of the immune system
What are connective tissue diseases often associated with
Specific auto-antibodies which can help define the diagnosis
What is systemic lupus erythematosis
Systemic autoimmune disease that can affect any part of the body
What is the difficulty for clinicians and SLE
It is often misdiagnosed as it mimics or is mistake n for other illnesses
What populations are more likely to develop Lupus
Women of Afro-Caribbean Afro-Americans and Hispanic Americans or Asian population
Uncommon in African Blacks
What are some of the factors leading to lupus
Oestrogen exposure (hormonal) Genetic factors Environmental factors - silica dust Immunological Factors Infection - particularly viral infections (ebstein barr) UV light
Describe the pathogenesis in a normal cell
You get a foreign antigen (often a virus) and a WBC will pick it up and show it to the T cells. They then release cytokines which provoke an inflammatory reaction which then stimulates the B cells to start producing antibodies against the foreign body
Describe the pathogenesis in autoimmunity
In autoimmune, these antigens are not foreign – they are part of the body and they are cell proteins – all cells break down and die over time. Whats in the cell will continue to float around for a short time – antigen presenting cells pick these up and see this as an external threat – B cells begin to produce antibodies against the normal cellular protein (autoantibodies)
Name some of the constitutional symptoms of SLE
Fever Malaise Poor appetite Weight loss Fatigue
What are some of the mucocutaneous features of SLE
photosensitivity
Malar rash
Discoid lupus erythematosis
Subacute cutaneous lipus
What are some of the musculoskeletal features
Non-deforming polyarthritis/ polyarthralgia
Deforming arhtropathy
Erosive arthritis (rare)
Myopathy - weakness, myalgia and myositis
What are some of the pulmonary features of SLE
Pleurisy Infections Diffuse lung infiltration and fibrosis Pulmonary hypertension Pulmonary infarct
What are some of the cardiac features of SLE
Pericarditis
Cariomyopathy
Pulmonary hypertension
libman -Sachs endocarditis (no bacteria often)
What are the findings in Glomerulonephritis SLE
Proteinuria Urine sediments Urine RBC and casts Hypertension Acute renal failure Chronic renal failure
What are some of the neurological features of SLE
Depression/ psychosis Migranous headache Cerebral ischaemia Cranial or peripheral neuropathy Cerebellar ataxia
What are some of the haematological features of SLE
Lymphadenopathy
Leucopenia
Anaemia
Thrombocytopenia
What are the aims of investigations for suspected SLE
To confirm the diagnosis
To determine the degree of organ involvement
How do we screen for suspected SLE
FBC Renal function tests (Urine examination) Anti-nuclear antibody Anti-Double stranded DNA antibodies ENA Complement levels
In what conditions is Anti-nuclear antibody found (ANA)
Rheumatoid arthritis
HIV
Hep C
What would be the finding in the majority of SLE positive patients in terms of ANA
Positive in titre of 1:160 or greater
When should a positive ANA test be taken seriously
If other antinuclear antibodies are also positive ANti-dsDNA anti-Sm Anti-Rs Anti-RNP
When the patient presents with CTD features
Anti-Double stranded DNA antibody is not highly specific for SLE. True or False.
False - it is highly specific and occurs in 60% of patients with SLE
Anti-SM if highly specific to SLE. What is there a probably association with when this is present
Neurological involvement
What is the general management involved with SLE
Counselling - patients, spouse and relatives
Regular monitoring
Avoid excessive sun-exposure
Pregnancy issues
What drugs should be used in SLE
NSAIDs and simple analgesia
Anti-malarials - hydroxychloroquine
Steroid - caution due to side effects
Immunosuppressives
What is the treatment for Mild disease lupus
HCO
Topical steroids
NSAIDs
What is the treatment for Moderate lupus
Oral steroids
Azathioprine
Methotrexate
What is the treatment for Severe disease
IV steroids
Cyclophosphamide
Rituximab - immunosuppression
What do patients with SLE die of
Complications fo SLE in the first few years - Males, late onset, lower socioeconomic class
Infection - early/ medium stage
Cardiovascular disease in the late stages
How can you make a diagnosis of Anti-phospholipid syndrome
Positive anti-cardiolipin antibodies and or lipus anticoagulant activity and/ or anti-beta2-glycoprotein on 2 occasions at least 12 weeks apart
Pregnancy loss with no other explanation
Anti-phospholipid syndrome is responsible for what 2 things
Recurrent foetal loss
recurrent thrombosis in young people
Anti-phospholipid is more common in young women. True or false
True
What are some of the other features of anti-phospholipid syndrome
Superficial thrombophlebitis and lived reticular
Neurological features - migraine, transverse myelitis
Libman-Sacks endocarditis
Describe the appearance of Lived reticular
Marbling appearance
What is the treatment for anti-phsophold syndrome
Thrombosis- lifelong anti-coagulation
Pregnancy loss - aspirin and heparin during pregnancy
attention to vascular risk factors
What is Sjogren’s syndrome
Lymphocyte infiltration of exocrine glands causing xerostomia and keratoconjunctivitis sicca
What test is carried out for suspected Sjogren’s syndrome
Schirmer test
What are needed to diagnose Primary Sjogren’s syndrome
4 of 6 of the classification criteria
Ocular or oral symptoms dryness
Immunology 0 either Ro,La or both
Biopsy evidence of lymphocytic infiltrate
What are some of the other manifestations of Sjogren’s syndrome
Fatigue Arthralgia Raynauds Salivary swelling Lymphadenopathy Skin and vaginal dryness Interstitial lung disease neuropathy lymphoma neonatal complete heart block (anti-Ro)
What is the peak age for Primary Sjogren’s syndrome
40-60
What is the treatment for Sjogren’s
Eye drops, punctal plugs Saliva replacement Pilocarpine Hydroxychloroquine Steroids and immunosuppression Attention to cardiovascular risk factors
What results in a patient with systemic sclerosis
Fibrosis - excess deposition of collagen in skin and internal organs
What are some of the main features of systemic sclerosis
CREST: Calconosis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasia Pulmonary Hypertension in 30%
What is systemic sclerosis associated with
Anti-centromere antibodies
What are some of the GI manifestations of systemic sclerosis
Oesophageal hypomobility small bowel hypo mobility bacterial overgrowth pancreatic insufficiency rectal hypomobility
What are some of the respiratory manifestations of systemic sclerosis
Interstitial lung disease
pulmonary hypertension
Chest wall restriction
What are some of the renal manifestations of systemic sclerosis
Hypertensive renal crisis
Ischaemic
What are some of the cardiovascular manifestations of systemic sclerosis
Raynaud’s with digital ulceration
Atherosclerotic disease
hypertensive cardiomyopathy
What is the common age to develop systemic sclerosis
25-55
What are the treatment options for systemic sclerosis
Calcium channel blockers Prostacyclin ACE inhibitors Prednisolone Immunosuppression Bosentan, sildenafil
What is mixed connective tissue disease (MCTD) defined by
Various combinations of major and minor criteria
What are some of the major criteria for MCTD
severe myositis pulmonary involvement Raynaud's phenomenon Swollen hands observed Sclerodactyly
What are some of the minor criteria for MCTD
Alopecia Leukpenia Anaemia Pleuritis Pericarditis Arthritis Trigeminal neuralgia Malar rash THrombocytopenia Mild myositis History of swollen hands
Describe the prognosis of Undifferentiated Connective tissue disorder
Usually better than most connective tissue disorders
