Connective Tissue Disorders Flashcards
What is systemic lupus erythematosus?
An autoimmune multi-system disorder, where there is an increase in classical complement deficiencies.
What is the epidemiology surrounding SLE?
There is a higher incidence in females, and in afro-Caribbean communities.
What are the signs and symptoms of SLE?
SOAP BRAIN MD
- Serositis
- Oral ulcers
- Arthritis
- Photosensitivity
- Blood disorders
- Renal impairment
- ANA +ve
- Immune phenomena
- Neurological symptoms
- Malar rash
- Discoid rash
How is a diagnosis of SLE made?
Having any 4 out of the 11 symptoms on SOAP BRAIN MD
What autoantibodies can be found in SLE?
Anti-nucear antibodies (90%)
- Anti-dsDNA
- Anti-Smith (most specific, but not sensitive)
If drug-induced: anti-histone (hydralazine medication for BP)
What can cause SLE?
Either:
- Autoimmune complexes
- Drug induction
What histological features can be seen in SLE?
- LE bodies
- Libman-Sacks Endocarditis
- Onion skin lesions (spleen)
What is systemic scleroderma?
This is a connective tissue disease involving tightening of the skin. It can be either limited or diffuse, both are auto-immune multi-system disorders.
What are the signs and symptoms of systemic scleroderma?
Limited: - Skin changes occur on face and distal to elbows and knees - Associated with pulmonary hypertension CREST: - Calcinosis - Raynaud's - Oesophageal dysmotility - Sclerodactyly - Telangiectasia
Diffuse:
- Skin changes occur anywhere (including trunk)
- Associated with pulmonary fibrosis
What autoantibodies are involved in systemic scleroderma?
Limited:
- Anti-centromere
Diffuse:
- Anti-topoisomerase (Anti-Scl-70)
What is the term for localised scleroderma?
Morphoea
What is the histology associated with systemic scleroderma?
Limited:
- Increased collagen in skin and organs
- Onion thickening of arterioles
Diffuse:
- Inflammation within and around muscle fibres
What is HLA association of SLE?
HLA - DR3 (or 2)
What is the HLA association of systemic scleroderma?
HLA - DR5 and DRw8
What is polymyositis and dermatomyositis?
These are autoimmune inflammatory conditions of the muscle (and skin if dermatomyositis).
They are usually associated with an underlying malignancy.
What are the signs and symptoms of polymyositis/dermatomyositis?
- Proximal muscle weakness
Dermatomyositis:
- Heliotrope rash
- Gottron papules
Associated with pulmonary fibrosis
What enzymes would be elevated in polymyositis/dermatomyositis? What other investigation would be abnormal?
CK enzymes
An EMG would be abnormal
What autoantibody is associated with polymyositis/dermatomyositis?
Anti-Jo-1
How can you classify vasculitides?
By the size of the vessels they affect:
- Large vessel
- Medium vessel
- Small vessel
Name some large vessel vasculitides. Describe them.
Takayasu’s Arteritis
- ‘Pulseless’ disease
- No pulse, bruits, claudication
- Higher in Japanese women
Temporal Arteritis
- Headache with: scalp tenderness, jaw claudication, vision symptoms
- Raised ESR
- Histo: skip lesions, giant cells
- Over 50s only
Name some medium vessel vasculitides. Describe them.
Polyarteritis Nodosa
- Renal involvement mainly
- 30% have associated HepB infection
- Beed like appearance to angiogram
Kawasaki’s Disease
- Affects children <5
- 5 day cough, red hands and feet, swollen lips, mouth or tongue, conjunctivitis
Thromboangitis Obliterans (Buerger’s)
- Heavy smokers, usually under 35
- Inflammation of arteries in extremities
- Corkscrew appearance on angiogram
Name some small vessel vasculitides. Describe them.
Granulomatosis with polyangiitis (Wegener’s)
- Triad:
- URT: sinusitis, saddle nose
- LRT: pulmonary haemorrhage
- Kidneys: glomerulonephritis
- cANCA positive (anti-PR3)
Eosniophilic granulomatosis with polyangiitis (CHurg-Straus)
- Asthma
- Eosinophilia
- Vasculitis symptoms
- pANCA positive (anti-MPO)
Microscopic polyangiitis
- Pulmonary haemorrhage
- Glomerulonephritis
- pANCA
Henoch-Schonlein Purpura
- Children <10
- IgA mediated vasculitis
- Preceding URTI
- Palpable purpuric rash (lower limbs and buttocks)
- Glomerulonephritis, abdominal pain, arthritis, orchitis
What is sarcoidosis?
A multi-system disease of unknown cause, characterised by non-caseating granulomas
What is the epidemiology surrounding sarcoidosis?
- Affects young adults
- Higher in afro-Caribbean
- Higher in women
What are the signs and symptoms of sarcoidosis?
Lungs:
- Most commonly involved
- Insidious SOB, cough, chest pain and night sweats
Extrapulmonary:
- Skin: erythema nodosum, lupus pernio, skin nodules
- LNs: lymphadenopathy, rubbery and non-tender
- Joints: arthritis, bone cysts
- Eyes: uveitis
- Liver/spleen: hepatosplenomegaly
- Blood: cytopaenia
- Hypercalcaemia
- Heart: cardiomyopathy
- CNS involvement
- Malaise, weight loss, fevers
What investigations would you perform on sarcoid patients? What would the results show?
Bloods:
- High calcium
- High ESR
- High ACE
- Hypergammaglobulinaemia
X-Ray:
- Bilateral hilar lymphadenopathy
Biopsy:
- Non-caseating granuloma
