Connective Tissue Disorders Flashcards
SLE is more common in which sex?
Females
SLE is commoner in which ethnic groups
Asians, Afro-Caribbeans
What is a genetic trigger for SLE?
Oestrogen exposure (e.g. HRT, early menarche)
What is an environmental trigger for SLE?
EBV infection
Is SLE B / T-cell response?
Both
In SLE, what is the target?
Nuclear material
How many SLE diagnosis criteria need to be met before SLE can be diagnosed?
More than or equal to 4 (at least 1 lab and 1 clinical)
What are some clinical diagnostic signs of SLE?
Cutaneous lupus, oral ulcers, arthritis
What are some laboratory diagnostic signs of SLE?
ANA, Anti-DNA, anti-Sm
SLE general symptoms
Fever, malaise, poor appetite, weight loss
Mucocutaneous symptoms of SLE include
Photosensitive rash, malar rash, painless ulcers on mouth, alopecia
MSK symptoms of SLE include
Deforming arthropathy “Jaccoud’s arthritis”, non-erosive arthritis, myopathy
Serositis symptoms of SLE
Pericarditis
Renal symptoms of SLE
Proteinuria (>500mg/day)
CNS symptoms of SLE
Depression, headache
Haematological symptoms of SLE
Lymphadenopathy (25% of patients), thrombocytopenia, leucopenia
What are some clinical symptoms/ signs for anti-phospholipid syndrome?
Recurrent venous & arterial thrombosis (esp. in young patients), recurrent miscarriage (esp. <10 weeks), livido reticularis, prolonged APTT
Livido reticularis is associated with which condition?
APS
How useful is an ANA in SLE diagnosis?
Limited - it will be positive in 95% of SLE patients but also positive in 20% of healthy people. It is also associated with HIV and HCV infection.
How useful is anti-dsDNA in SLE diagnosis?
Very specific for SLE. Titre correlates with disease activity
Is Anti-Ro positive in SLE?
Yes (also in Sjogren’s)
Is anti-Sm positive in SLE?
Highly specific for SLE. If positive suggests CNS involvement.
What are the APS antibodies?
Cardiolipin, lupus anticoagulant, anti-beta2 glycoprotein
What criteria need to be met for a diagnosis of APS to be made?
1) Positive anti-cardiolipin / lupus anticoagulant / anti-beta2 glycoprotein
2) Need to be positive on at least 2 occasions 12 weeks apart
Once SLE is diagnosed, what is the next step?
Investigate organ involvement with a range of tests (e.g. CXR, PFTs, echo, renal biopsy).
How is SLE monitored?
1) Anti-dsDNA which positively correlates with disease activity
2) C3/C4 levels which negatively correlate with disease activity
What are the basic steps of SLE treatment?
1) Regular self-monitoring
2) Counselling
3) Avoid sun exposure
How is “mild” SLE treated
NSAIDs & simple analgesia
If an SLE patient develops arthritis or cutaneous lesions, which drugs are warranted?
Hydroxychloroquine, steroids (low dose, <15mg/day).
What symptoms of SLE warrant high dose steroids (IV or 1mg/kg/day)?
Organ dysfunction or diffuse GN
What symptoms of SLE warrant medium-dose steroids (0.5mg/kg/day)?
Resistant serositis
Immunosuppressives should be used in which severity of SLE?
Moderate SLE
Biologics should be used in which severity of SLE?
Severe (organ involvement)
What is the antibody class in APS?
IgM or IgG
How is APS managed? (3)
1) Lifelong anticoagulation
2) Aspirin/ heparin in pregnancy
3) Hydroxychloroquine
What symptoms does Sjogren’s Syndrome cause
“Drying” (decreased lacrimal & salivary gland production): dry mouth, dry throat, vaginal dryness. Increased dental carries, bilateral salivary gland enlargement.
What antibodies are positive in Sjogren’s Syndrome?
Anti-Ro and Anti-La (as you Ro(w) towards La(nd) you nearly touch your eyes)
What non-antibody tests are used in Sjogren’s?
Salivary gland biopsy, labial biopsy
How is Sjogren’s treated? (5)
Artificial tear drops, ciclosporin eye drops, punctal plugs, hydroxychloroquine, methotrexate
What is the underlying cause of systemic sclerosis?
Recurrent autoimmunity leading to fibrosis and vascular endothelial changes
Diffuse cutaneous systemic sclerosis usually involves which area?
Torso & skin proximal to forearm
Diffuse cutaneous systemic sclerosis usually presents with early/late organ involvement?
Early (especially ILD). Can lead to renal crisis.
Which antibodies are +ve in diffuse cutaneous systemic sclerosis? (3)
Anti-topioisomerase
Anti-Scl-70
Anti-RNA III
What is limited SSc also known as?
CREST syndrome
What are the symptoms of CREST/ limited SSc?
Calcinosis Raynauld's Esophageal dysfunction Sclerodactyly Telangiectasia
What’s a common complication of CREST/ SSc?
Pulmonary HT
Which antibody is positive in CREST?
Anti-Centromere, Anti-Scl-70
How is systemic sclerosis treated?
Depends upon symptoms: Raynaulds: PDE inhibitor, calcium-channel blocker Lung disease: Immunosuppression Reflux: PPI Tight BP control Digital ulcers: iloprost infusion
What antibody is positive in MCTD?
Anti-RNP
What’s a common complication of MCTD?
Pulmonary hypertension
Antibody positive in Sjogren’s
Anti-Ro, Anti-La
Antibody positive in SSc
Anti-centromere, anti-Scl-70
Antibody positive in diffuse SSc
Anti-topioisomerase, anti-RNA III
Antibody positive in MCTD
Anti-RNP
Antibody positive in Polymyositis
Anti-Jo-1
Antibody positive in APS
Anti-Cardiolipin, Lupus Anticoagulant, anti-beta2 glycoprotein
SLE is what type of HS reaction?
Type III
Goodpasture’s Syndrome is what type of HS reaction?
Type II
Farmer’s Lung is what type of HS reaction?
Type III
Rheumatic fever can follow which infection
Streptococcus
Mnemonic for SLE
SOAP-BRAIN-MD. S: serotitis O: Oral ulcers A: Arthritis P: Photosensitivity B: Blood (all low; anaemia, thrombocytopaenia) R: Renal (protein A: ANA +ve I: Immunology (anti-dsDNA) N: Neurologic (psych, seizures, depression) M: Malar rash D: Discoid rash
Each individual has how many HLAs?
2 (type I and II)
What is IPEX syndrome
A monogenic cause of severe autoimmunity due to mutation in FOXP3 gene required to induce T-regulatory cell production
