Connective tissue disease Flashcards
How can SLE present - signs and symptoms?
sharp chest pain worse on inspiration - pleuritic chest pain pain in joints eg hands and knees - synovitis headaches ankle swelling fatigue and fever - constitutional poor appetite butterfly rash on face skin rash mucosal ulceration pleurisy pericarditis Raynaud's phenomenon venous thrombosis arterial thrombosis vasculitis depression and psychosis recurrent abortion lymphadenopathy high BP dullness in the base of the lung with reduced breath sounds - pleural effusion protein and blood in the urine - glomerulonephritis arthritis oral ulcers phostosensitivity
what are the differential diagnoses of SLE?
basically the possible causes of multi-system disease: infection auto-immune diseases malignancy endocrine diseases metabolic diseases
What may be seen on investigations of sb with SLE?
low WCC anaemia raised ESR and raised CRP raised creatinine - renal impairment pleural effusion on CXR
What test is done in SLE pts presenting with pleuritic chest pain to exclude PE?
CT angiogram
what is the treatment for SLE?
prednisolone
What are the two causes of connective tissue diseases?
autoimmune
inherited
Give examples of inherited connective tissue disorders
marfans
Ehler Danlos syndrome
what are the features of Marfan’s
arachnodactyly high arch palate lens dislocation joint pain due to hyperpermeability aortic aneurysm pectus excavatum larger arm span than height
What are the features of Ehler Danlos syndrome?
hypermobile joints
skin hyperelasticity
Give examples of autoimmune connective tissue diseases
SLE systemic sclerosis primary Sjörgen's syndrome dermatomyositis/ polymyositis undifferentiated connective tissue diseases - which don't fit into a specific category
Are autoimmune connective tissue disorders inflammatory?
yes - inflammation leads to scarring and damage
can lead to organ failure
The damage is reversible in autoimmune connective tissue disorders? T or F
false - it is irreversible
Is the butterfly rash with SLE permanent?
no it comes and goes
Does SLE have male or female predilection?
female
Does SLE have any genetic associations?
yes with HLA
Explain the pathophysiology behind SLE
autoantibodies formed by a defective immune system bind to nuclear antigens (ie substances in the nucleus of our own cells) to form immune complexes
the immune complexes enter the bloodstream and go to to other organs causing tissue damage
Ag-Ab complexes activate complement and cause inflammation and cell death
phospholipid antibodies are also produced that cause thrombosis
How does the SLE arthritis compare with RA?
both are symmetrical
both can be deforming
less proliferative than RA
non-erosive unlike RA
what are the clinical features of lupus nephritis?
hypertension
proteinuria
renal failure
nephritic syndrome
what are the haematological features of lupus?
anaemia thrombocytopenia Lymphocytopenia neutropenia pancytopenia
Name some autoantibodies that may be detected in a pt with Lupus
ANA
dsDNA antibody
rheumatoid factor
antiphospholipid antibodies: anticardiolipin Ab, lupus anticogaulant Ab
What happens in antiphospholipid syndrome?
the antiphospholipid antibodies will cause a hypercoagulable state and there is arterial and venous thrombosis, with recurrent abortion and thrombocytopenia
What are the 11 criteria the help diagnose Lupus and how many of these criteria need to be met for a diagnosis?
at least 4 of: Malar rash Discoid rash Photosensitivity Oral ulcers Arthritis Serositis Renal disorder Neurological disorder Haematological disorder Immunological disorder Anti-nuclear antibody
How is SLE managed not in terms of drugs?
pt education and support UV protection Assessment of lupus activity: Clinical and Immunological Screening for major organ involvement Assessment of damage
What is the drug management of SLE?
No Treatment Topical: Sunscreens, Steroids, Cytotoxic NSAIDs Antimalarial Steroids Cytotoxic drugs Anticoagulants Biological Plasmapheresis Stem cell transplant
Give examples of cytotoxic drugs that may be used for Lupus
Azathioprine Mycophenolate Ciclosporin Methotrexate Cyclophosphamide
What is the name of the biological agent use in Lupus and what does it target?
Rituximab
targets CD20 on the B cell surface
From what conditions does secondary raynaud’s come from?
Systemic sclerosis SLE RA dermatomyositis and polymyositis mixed connective tissue disease (a mix of both the above)
What factors can cause secondary Raynaud’s
connective tissue diseases
drugs eg beta blockers
vascular damage - atherosclerosis, frostbite and vibrating tools
what is the triphasic colour change in raynaud’s
white to blue to pink
What are the features of limited scleroderma?
CREST + pulmonary hypertension Calcinosis Raynaud's Oesophageal reflux/strictures sclerodactyly telangectasia pilmonary hypertension
what antibody is present in CREST syndrome?
anti-centromere Abs
What are the features of diffuse scleroderma?
Proximal scleroderma Pulmonary fibrosis Bowel involvement Myositis Renal crisis: hypertension
what are the points of pathogenesis of scleroderma?
Vasculopathy
Excessive collagen deposition
Inflammation
Auto-antibody production
How is systemic sclerosis managed?
Raynaud's: Physical protection Vasodilators eg Nifedipine Sympathectomy Fluoxetine
reflux
PPIs for life
prevention of renal crisis:
ACEIs
early detection of PAH through annual echos and pulmonary function tests
pulmonary fibrosis:
treated with cyclophosphamide
what conditions can lead to secondary Sjörgen’s?
SLE RA scleroderma primary biliary cholangitis other autoimmune diseases
Name 2 autoantibodies in Sjörgens
ANA
rheumatoid factor
what are the systemic features of Sjörgen’s
inflammatory arthritis sub-acute lupus rash neuropathies vasculitis neonatal lupus increased risk of lymphoma
How is primary Sjorgen’s managed?
tear and salivary replacement
immunosuppression for systemic complications
needs a joint approach between specialities - rheumatology, oral medicine, opthalmology, neurology, dermatology
What are the signs and symptoms of dermatomyositis and polymyositis?
muscle and skin affected
rash (only in dermatomyositis)
muscle weakness
interstitial lung disease - SOB
What investigations can be done for dermatomyosytis and polymyositis
muscle enzymes eg creatine kinase raised
electromyography - to look for abnormal muscle signal conduction
skin/muscle biopsy
screen for malignancy
CXR, PFTs, HRCT scans
what is the management of polymyositis and dermatomyositis
steroids
immunosuppressive drugs
