Connective tissue disorders Flashcards
What is SLE?
multisystemic autoimmune disease
autoantibodies are made against a variety of autoantigens which form immune complexes
inadequate clearance of these immune complexes results in a host immune responses which cause inflammation and damage
Epidemiology of SLE
typically affects women of child-bearing age
more common in African-Caribbean and Asian people
HLA B8, DR2 or DR3 positive
Features of SLE
remitting and relapsing illness of variable presentation and course
non-specific: malaise, fevers, fatigue and myalgia
malar/butterfly rush
photosensitivity
arthralgia
arthritis
mouth ulcers
alopecia
discoid erythematous
lymphadenopathy
livedo reticularis - mottled reticular patterned skin rash of purple discolouration
Organ involvement in SLE
renal: lupus nephritis
resp: pleuritis, pneumonitis, PE
CVD: pericarditis, raynauds phenomenon, endocarditis, atherosclerosis
neuropyschiatric: headache/migraine, seizures, psychosis
Other AI conditions: anti-phospholipid syndrome and thyroid disease
Immunology of SLE
> 95% patients with SLE are ANA positive
high anti-ds-DNA antibody is specific but only +ve in 60%
ENA antibodies may be +ve in 20-30%
40% are RF +ve
Diagnosis of SLE
Need 4/11 criteria, doesn’t need to be at same time:
malar rash
discoid lupus
photosensitivity
non-erosive arthritis involving 2+ peripheral joints
oral or nasopharyngeal ulcers
pleuritis or pericarditis
renal involvement
seizures or psychosis
haematological disorders
immunological disorders
positive ANA
Investigations for SLE
FBC: normochromic normocytic anaemia, leucopenia, thrombocytopenia
ESR raised, normal CRP
positive ANA
Anti-dsDNA
U&Es: proteinuria and haematuria
Mx of SLE
general mx: suncream, smoking cessation, optimising nutrition and exercise, contraception
hydroxychloroquine - for all
mild disease: hydroxychloroquine, ?NSAIDs and low-dose glucocorticoids
Moderate: hydroxychlorouine + short term prednisolone, glucocorticoid-sparing agents
Severe: intensive immunosuppressive therapy + high dose glucocorticoids
Cx of SLE
nephritis: lupus nephritis - proteinuria, haematuria and end-stage renal disease
CVD: CAD, myocarditis, pericarditis and HF
Pulmonary: pleuritis, pleural effusion, interstitial lung disease, pulmonary HTN
Neuropsychiatric lupus: headache and mood disorders, stroke or seizures
Haematological: leucopenia, lymphopenia, thrombocytopenia and autoimmune haemolytic amaemia
What is scleroderma
another term for systemic sclerosis
fibrosis across multiple organ systems
more common in women 30-50
increased production of collagen in tissues
Diffuse cutaneous systemic sclerosis
affects multiple systems
limited cutaneous systemic sclerosis
= CREST syndrome
affects fewer organs, notable sparing kidneys and skin on trunk and proximal limbs
What is CREST syndrome?
Calcinosis (hard calcified nodules under skin)
Raynaud’s phenomenon
Eosophageal dysmotility (food gets stuck on swallowing, causing discomfort)
Sclerodactyly (tightening and thickening of skin over fingers distal to MCP joints)
Telangiectasia (prominent dilated capillaries, particularly on cheeks)
Features of Scleroderma
first sx: skin becomes tight, fingers become stiff and inflexible, sx of raynauds
tightening of skin elsewhere (face)
tightening around lips, shrinking open of mouth
general fatigue
joint and muscle pain
ulceration secondary to skin tightening so much it tears and can’t heal
vascular disease
pulmonary fibrosis
PAH
renal failure
Mx of Scleroderma
no cure and generally progressive
immunosuppressants - to slow progression - cyclophosphamide
PT/OT
Sx:
analgesia
CCB - nifedipine
topic skin emollients
PPI and antacids for oesophageal reflux
treating PAH
What is Ehlers-Danlos Syndrome?
clinically diverse conduction with skin fragility, ligament laxity, short stature, spinal deformity, vascular fragility and rarely, retinal detachment
hypermobility is most common subtype
diagnosis: primarily clinically, confirmed via genetic testing done via skin biopsy
What is antiphospholipid syndrome?
antibodies target proteins that bind to phospholipids on cell surface, causing inflammation and increasing risk of thrombosis
What antibodies are associated with antiphospholipid syndrome?
anti-phospholipid antibodies
anticardiolipin
lupus anticoagulant
anti-beta-2 glycoprotein I
What does antiphospholipid syndrome cause?
CLOTS
Coagulation defects (arterial/venous) - DVT, PE, stroke, MI, renal thrombosis
Livedo reticularis - purple lace-like rash that gives a mottled appearance to skin
Obstetric complications (recurrent miscarriage, pre-eclampsia and stillbirth)
Thrombocytopenia
what is Lichmann-Sacks endocarditis?
non-bacterial endocarditis with growths on heart valves
Mx for antiphospholipid syndrome
long-term warfarin - target INR of 2-3 - prevent thrombosis
LMWH (enoxaparin) and aspirin - pregnancy to reduce risks
