autoinflammtory TRAPs

Question 1

Where are the mutations for TRAPS?

Answer 1

in the extracellular domain of TNFa receptor.

Question 2

What can cause attacks of TRAPS?

Answer 2

usually unprovoked, normally stresses of life can also induce an attack.

Question 3

Is anti-TNFa therapy effective in TRAPS?

Answer 3

But infliximab was neffective and made disease worse.

Question 4

How is inflammation thought to arise in TRAPS?

Answer 4

TNFR is actually misfolded in the ER, causing ER stress and UPR signalling that stimulates pro inflammaotyr pathways like IL-1B.

Question 5

What can be used to treat TRAPS?

Answer 5

NSAID and cortiocosteroids
etanercept slightly beneificial,
Anakinra and canakinumab are both effective.

Question 6

What is common european variant of TNRF that can be in healthy people but causes commonest form of TRAPS

Answer 6

R121Q, usually a milder form with shorter episodes.

Can often resolve on its own.

Question 7

More unique autoinflammatory presentation with R121Q patients?

Answer 7

pharyngitis and ulcers.

Question 8

What is used to treat R121Q TRAP patients?

Answer 8

NSAIDS, colchicine, or actually will respond to anti TNFa but not IL-1B.

Question 9

What mutation causes HIDS/MKD?

Answer 9

MKV mutations, encodes an enzyme involved for cholesterol synthesis.

Question 10

Why does MVK deficiency cause inflammation?

Answer 10

Reduced isoprenoid, and reduced Rho GTPase activation (less inhibition of the pyrin inflammasome).

Question 11

What cytokine increased in HIDS/MKD and interesting symptom?

Answer 11

IL-1B and maculopapular rash is seen.

Can also lead to AA amyloidosis and susceptibility to infections not seen with the others.

Question 12

Treatment for HIDS/MKD?

Answer 12

NSAIDs and corticosteroids.
colchicine ineffective.
Il-1/ TNFa inhibitors used.
canakinumab most effective.

Question 13

What is an acquired SAID that presents exactly the same as CAPS in the elderly?
what is seen associated with it?

Answer 13

Schnitzler’s syndrome

Seen with a monoclonal IgM gammopathy (no genetic cause known)

Question 14

What gender is Schnitzlers syndrome more common in?

Answer 14

men

Question 15

What can you treat Schnitzler’s syndrome with?

Answer 15

With anti IL-1 agents.

Question 16

Another acquired SAID with late onset with a known genetic cause?

Answer 16

VEXAS, somatic mutations in ubiquitinating enzyme UBA1 on X chromosome.

Question 17

A unique symptom of VEXAS and treatment?

Answer 17

ear and nose chondritis, treated with anti IL-1 agents.

Question 18

Who does adult-onset still’s disease AOSD affect?

Answer 18

young adults -likely polygenic causes affecting innate immune reponse.

Question 19

what cytokines might be important in AOSD

Answer 19

IL-1 and Il-6 and may develop to a IL17 disease.

Question 20

Along with normal fever joint and joint pain, what other distinctive symptom is easier to diagnose with cameras?

Answer 20

fever has daily or twice daily spikes

maculopapular rash.

Question 21

three kinds of disease courses for AOSD?

Answer 21

monophasic, relapsing followed by completion remission before relapse.
relapse and remission progressive progression.

Question 22

What biologics can be used for AOSD?

Answer 22

Il-1 agents, tocilizumab and infliximab covers TNFa IL-6 and IL-1 inflammation.

Question 23

what is the most common autoinflammatory fever disorder in childhood?

Answer 23

PFAPA?

Question 24

when does PFAPA resolve?

Answer 24

Normally resolves in puberty. Can go away with steroids, or if relapsing colchicine may be useful.

Question 25

What is AA amyloidosis

Answer 25

As a result of chronic inflammation, serum amyloid the acute phase protein can deposit and cause cardiomyopathies and renal dysfunction.