Auto-inflammatory diseases Flashcards
What is the basic difference between auto-immune and auto-inflammatory?
Auto-immune = malfunction in the adaptive immune system
Auto-inflammatory = malfunction in the innate immune system
Antibodies are involved in which of these:
- auto-immune
- auto-inflammatory?
Auto-immune: auto-antibodies are produced
NOT in auto-inflammatory
‘A failure to recognise self’
Does it describe auto-inflammatory or auto-immune?
Auto-immune
‘An over-reaction in response to a minor stimuli’
Does it describe auto-inflammatory or auto-immune?
Auto-inflammatory
What are some examples of auto-inflammatory conditions?
FMF: Familial Mediterranean Fever
TRAPS: Tumour necrosis factor receptor associated periodic syndrome
AOSD: Adult onset Still’s disease
What are the general features of auto-inflammatory?
Intermittent intense episodes of inflammation
Fever
Rash
Joint swelling
Amyloidosis
What causes FMF?
A genetic mutation in the gene that encodes a protein called pyrin
What gene is mutated in FMF?
A gene that encodes for a protein called pyrin
Clinical features of FMF?
They get attacks: acute episodes of symptoms that last for a few days
How quickly to attacks develop in FMF and how long do they last?
Develop over 2-4 days
Last from 6 hours to 4 days
What types of attacks can you get in FMF?
7 types…
Abdominal Joint Chest Scrotal Myalgia Erysipeloid Fever
What does an abdominal attack of FMF look like?
Affect whole abdomen
Signs of peritonitis
What does a chest attack of FMF look like?
Pleuritic
Pericarditis
What happens in an Erysipeloid attack of FMF?
Skin reaction on the legs
Rare
What happens during an FMF attack that causes all the symptoms?
Large amount of AA amyloid protein is produced
Leading to AA amyloidosis
This causes the symptoms
FMF attacks do not go away without treatment.
True or false?
False
They are self limiting
What does TRAPS stand for?
Tumour necrosis factor receptor associated periodic syndrome
Is FMF:
- autosomal or sex-linked
- dominant or recessive?
Autosomal recessive
What causes TRAPS?
A genetic mutation in the gene that codes for tumour necrosis factor
Which gene is mutated in TRAPS?
The gene that codes for tumour necrosis factor
Clinical features of TRAPS?
Episodic symptoms:
- fevers
- rash
- abdominal pain
- joint/muscle aches
- puffy eyes
Management of FMF?
Analgesics to help during attacks
Drug called Colchicine decreases attack frequency
Why is FMF called FMF?
Mediterranean
Because it mostly affects people from places near the Mediterranean Sea
Management of TRAPS?
Biologics such as Anakinra
What does AOSD stand for?
Adult-onset Still’s disease
What causes AOSD?
We don’t know, its idiopathic
Could be something linked with IL-1 and IL-18 over-expression
Clinical features of AOSD?
Triad:
- persistent spiking fevers
- joint pain
- salmon coloured bumpy rash
Raised ferritin
Complications can affect lungs, heart, kidney
Diagnosis of AOSD?
Bloods:
- high ferritin
- no Rh factor
- no ANAs (anti-nuclear antibodies)
Management of AOSD?
Steroids: prednisolone
Methotrexate
What are some classic features of auto-inflammatory disorders?
Recurrent daily fever
Sore throat
Pleuropericarditis: inflammation of pericardium and pleura
AA amyloidosis
Myalgia: muscle pain
Lymphadenopathy
Hearing loss
How can you define pyrexia of unknown origin (PUO)?
Fever higher than 38.3 on several occasions
Lasting for over 3 weeks
If you see a patient with PUO, what is the differential diagnosis?
Infections, HIV
Malignancy: leukaemia, lymphoma
Autoimmune
- RA
- Giant Cell arteritis
- IBD
- SLE
What is Colchicine?
An anti-inflammatory agent
