autoinflammtory TRAPs Flashcards
Where are the mutations for TRAPS?
in the extracellular domain of TNFa receptor.
What can cause attacks of TRAPS?
usually unprovoked, normally stresses of life can also induce an attack.
Is anti-TNFa therapy effective in TRAPS?
But infliximab was neffective and made disease worse.
How is inflammation thought to arise in TRAPS?
TNFR is actually misfolded in the ER, causing ER stress and UPR signalling that stimulates pro inflammaotyr pathways like IL-1B.
What can be used to treat TRAPS?
NSAID and cortiocosteroids
etanercept slightly beneificial,
Anakinra and canakinumab are both effective.
What is common european variant of TNRF that can be in healthy people but causes commonest form of TRAPS
R121Q, usually a milder form with shorter episodes.
Can often resolve on its own.
More unique autoinflammatory presentation with R121Q patients?
pharyngitis and ulcers.
What is used to treat R121Q TRAP patients?
NSAIDS, colchicine, or actually will respond to anti TNFa but not IL-1B.
What mutation causes HIDS/MKD?
MKV mutations, encodes an enzyme involved for cholesterol synthesis.
Why does MVK deficiency cause inflammation?
Reduced isoprenoid, and reduced Rho GTPase activation (less inhibition of the pyrin inflammasome).
What cytokine increased in HIDS/MKD and interesting symptom?
IL-1B and maculopapular rash is seen.
Can also lead to AA amyloidosis and susceptibility to infections not seen with the others.
Treatment for HIDS/MKD?
NSAIDs and corticosteroids.
colchicine ineffective.
Il-1/ TNFa inhibitors used.
canakinumab most effective.
What is an acquired SAID that presents exactly the same as CAPS in the elderly?
what is seen associated with it?
Schnitzler’s syndrome
Seen with a monoclonal IgM gammopathy (no genetic cause known)
What gender is Schnitzlers syndrome more common in?
men
What can you treat Schnitzler’s syndrome with?
With anti IL-1 agents.
Another acquired SAID with late onset with a known genetic cause?
VEXAS, somatic mutations in ubiquitinating enzyme UBA1 on X chromosome.
A unique symptom of VEXAS and treatment?
ear and nose chondritis, treated with anti IL-1 agents.
Who does adult-onset still’s disease AOSD affect?
young adults -likely polygenic causes affecting innate immune reponse.
what cytokines might be important in AOSD
IL-1 and Il-6 and may develop to a IL17 disease.
Along with normal fever joint and joint pain, what other distinctive symptom is easier to diagnose with cameras?
fever has daily or twice daily spikes
maculopapular rash.
three kinds of disease courses for AOSD?
monophasic, relapsing followed by completion remission before relapse.
relapse and remission progressive progression.
What biologics can be used for AOSD?
Il-1 agents, tocilizumab and infliximab covers TNFa IL-6 and IL-1 inflammation.
what is the most common autoinflammatory fever disorder in childhood?
PFAPA?
when does PFAPA resolve?
Normally resolves in puberty. Can go away with steroids, or if relapsing colchicine may be useful.
What is AA amyloidosis
As a result of chronic inflammation, serum amyloid the acute phase protein can deposit and cause cardiomyopathies and renal dysfunction.
