Rheumatology

Question 1

What are the clinical features of PFAPA?

Answer 1

Symptoms: Periodic fever, aphthous stomatitis, pharyngitis, adenitis
Fever pattern: 2-7 days, usually every 4 weeks
Amyloidosis not a concern
Can use steroids but will shorten time between episodes.
Up to 70% can resolve with tonsillectomy

Question 2

What are the clinical features of TRAPS (TNF-receptor associated period fever syndrome)?

Answer 2

Usually starts before 10yrs, usually every 4-6 weeks
Lasts between 5-25 days
Recurrent fevers, chills, muscle pains, abdominal pain, red swollen eyes and painful rash.
Associated with amyloidosis if not treated
Flares with stress, infection ,trauma, immunisation, hormonal changes
Tx: Steroids, etanercept, anakinra, canakinumab, tocilizumab

Question 3

What are the clinical features of familial Mediterranean fever?

Answer 3

MEFV gene mutation
Recurrent episodes of fever and serositis (chest, abdominal, joints), rash and swollen tender scrotum.
Attacks last 1-3 days, attacks vary from days to years apart
Amyloidosis significant issue
Tx: Colchicine, IL-1 blockers, NSAIDs

Question 4

What is the gene mutation in CAPS (Cryopyrin associated periodic syndrome?

Answer 4

NLRP3 (Cryopyrin protein)

Question 5

What is the definition of JIA?

Answer 5

Group of inflammatory condition that begins before 18th birthday, persistent for at least 6 weeks and other disorders are excluded.

Question 6

What are the key clinical features of jIA?

Answer 6

Painful swollen joints
Limited movement in joints
Fever
Rash

Question 7

What referral must you make for a child with JIA?

Answer 7

Ophthalmology referral - Uveitis (20-30%)
Untreated can lead to blindness, glaucoma, keratopathy

Question 8

What are the clinical features of systemic JIA?

Answer 8

Fever (quotidian features)
Rash
Hepatosplenomegaly
Lymphadenopathy
Serositis - pleural, pericardial effusions
IL-1 and IL-6 involvement

Question 9

Which seromarker will be positive in enthesitis related JIA?

Answer 9

HLA B27

Question 10

What is ANA used for in JIA?

Answer 10

Delineating risk of uveitis

Question 11

Which rheumatology condition is at risk of MAS?

Answer 11

Systemic JIA
- Presents with fever, cytopenia, elevated LFT, hepatosplenomegaly
- Markedly elevated ferritin, low fibrin, coagulation abnormalities, elevated triglycerides

Question 12

Which rheumatology conditions are associated with subcutaneous calcinosis?

Answer 12

Juvenile dermatomyositis

Question 13

Which condition is associated with gottrons papules and heliotropic rash?

Answer 13

Juvenile dermatomyositis

Question 14

What are the complications of juvenile dermatomysositis?

Answer 14

Interstitial lung disease
Cutaneous vasculopathy
Calcinosis

Question 15

Which rheumatology condition has capillary nail fold changes/dilation?

Answer 15

Juvenile dermatomyositis