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Musculoskeletal > Auto-inflammatory diseases > Flashcards

Auto-inflammatory diseases Flashcards

1
Q

What is the basic difference between auto-immune and auto-inflammatory?

A

Auto-immune = malfunction in the adaptive immune system

Auto-inflammatory = malfunction in the innate immune system

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2
Q

Antibodies are involved in which of these:

  • auto-immune
  • auto-inflammatory?
A

Auto-immune: auto-antibodies are produced

NOT in auto-inflammatory

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3
Q

‘A failure to recognise self’

Does it describe auto-inflammatory or auto-immune?

A

Auto-immune

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4
Q

‘An over-reaction in response to a minor stimuli’

Does it describe auto-inflammatory or auto-immune?

A

Auto-inflammatory

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5
Q

What are some examples of auto-inflammatory conditions?

A

FMF: Familial Mediterranean Fever

TRAPS: Tumour necrosis factor receptor associated periodic syndrome

AOSD: Adult onset Still’s disease

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6
Q

What are the general features of auto-inflammatory?

A

Intermittent intense episodes of inflammation

Fever
Rash
Joint swelling
Amyloidosis

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7
Q

What causes FMF?

A

A genetic mutation in the gene that encodes a protein called pyrin

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8
Q

What gene is mutated in FMF?

A

A gene that encodes for a protein called pyrin

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9
Q

Clinical features of FMF?

A

They get attacks: acute episodes of symptoms that last for a few days

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10
Q

How quickly to attacks develop in FMF and how long do they last?

A

Develop over 2-4 days

Last from 6 hours to 4 days

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11
Q

What types of attacks can you get in FMF?

A

7 types…

Abdominal
Joint
Chest
Scrotal
Myalgia
Erysipeloid
Fever
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12
Q

What does an abdominal attack of FMF look like?

A

Affect whole abdomen

Signs of peritonitis

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13
Q

What does a chest attack of FMF look like?

A

Pleuritic

Pericarditis

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14
Q

What happens in an Erysipeloid attack of FMF?

A

Skin reaction on the legs

Rare

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15
Q

What happens during an FMF attack that causes all the symptoms?

A

Large amount of AA amyloid protein is produced

Leading to AA amyloidosis

This causes the symptoms

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16
Q

FMF attacks do not go away without treatment.

True or false?

A

False

They are self limiting

17
Q

What does TRAPS stand for?

A

Tumour necrosis factor receptor associated periodic syndrome

18
Q

Is FMF:

  • autosomal or sex-linked
  • dominant or recessive?
A

Autosomal recessive

19
Q

What causes TRAPS?

A

A genetic mutation in the gene that codes for tumour necrosis factor

20
Q

Which gene is mutated in TRAPS?

A

The gene that codes for tumour necrosis factor

21
Q

Clinical features of TRAPS?

A

Episodic symptoms:

  • fevers
  • rash
  • abdominal pain
  • joint/muscle aches
  • puffy eyes
22
Q

Management of FMF?

A

Analgesics to help during attacks

Drug called Colchicine decreases attack frequency

23
Q

Why is FMF called FMF?

A

Mediterranean

Because it mostly affects people from places near the Mediterranean Sea

24
Q

Management of TRAPS?

A

Biologics such as Anakinra

25
Q

What does AOSD stand for?

A

Adult-onset Still’s disease

26
Q

What causes AOSD?

A

We don’t know, its idiopathic

Could be something linked with IL-1 and IL-18 over-expression

27
Q

Clinical features of AOSD?

A

Triad:

  • persistent spiking fevers
  • joint pain
  • salmon coloured bumpy rash

Raised ferritin

Complications can affect lungs, heart, kidney

28
Q

Diagnosis of AOSD?

A

Bloods:

  • high ferritin
  • no Rh factor
  • no ANAs (anti-nuclear antibodies)
29
Q

Management of AOSD?

A

Steroids: prednisolone

Methotrexate

30
Q

What are some classic features of auto-inflammatory disorders?

A

Recurrent daily fever

Sore throat

Pleuropericarditis: inflammation of pericardium and pleura

AA amyloidosis

Myalgia: muscle pain

Lymphadenopathy

Hearing loss

31
Q

How can you define pyrexia of unknown origin (PUO)?

A

Fever higher than 38.3 on several occasions

Lasting for over 3 weeks

32
Q

If you see a patient with PUO, what is the differential diagnosis?

A

Infections, HIV

Malignancy: leukaemia, lymphoma

Autoimmune

  • RA
  • Giant Cell arteritis
  • IBD
  • SLE
33
Q

What is Colchicine?

A

An anti-inflammatory agent

Musculoskeletal (15 decks)

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