Rheumatology

Question 1

Diagnostic criteria of Behcet disease

+ Epidemiology

Answer 1

Ulcers (oral/genital at least 3 times a year)

+ 2 of the following

• pathergy
• eye lesions (uveitis)
• skin lesions (erythema nodosum)

Turkish population (Mediterranean to Japan) 
8-12yo

Question 2

Diagnostic criteria of benign joint hypermobility syndrome

Answer 2

Hypermobility of joints
(Hyperextend knees, elbows, MCP, hips, thumb)

Minor criteria

• chronic (>3/12) arthralgia (>3 joints) or back pain
• spondylosis, dislocation/subluxation in more than one joint
• soft tissue rheumatism (>3 e.g. epicondylitis, tenosynovitis, bursitis)
• abnormal skin (striae, hyperextensibility, thin skin, papyraceous scarring)
• eye signs (drooping eyelips or myopia or antimongoloif slant)
• varicose veins or hernia or uterine/rectal prolapse

Question 3

Stickler syndrome

Inheritance

Cause

Salient features

Answer 3

Autosomal recessive

Hereditary connective tissue disorder of fibrillar collagen.

Eyes:

Abnormal vitreous development: The various vitreous phenotypes include Membranous, Beaded and Hypoplastic. This can lead onto retinal detachment and blindness.

Congenital Myopia, astigmatism.

Congenital cataracts - especially quadrantic lamellar cataracts.

Risk of glaucoma.

Note:COL11A2mutations do not usually have eye findings.

Craniofacial: Flat midface, depressed nasal bridge, short nose with anteverted nostrils, bifid uvula, cleft palate (midline), Pierre-Robin sequence.

Skeletal system: Joint hypermobility, premature onset of arthritis, joint enlargements (due to epiphyseal dysplasia), chronic back pain. Spine abnormalities including kyphoscoliosis.

Ears: Conductive and/or sensorineural deafness.

Question 4

Features of Systemic onset juvenile chronic arthritis

Answer 4

A key feature of systemic onset JA is intermittent fever

The rash is also characteristic – the rash is brought out by heat, and is most prominent when the child is febrile. Unlike viral exanthems, which persist, the rash often fades as the temperature returns to normal, only to reappear with the next fever spike.

The white cell count is often quite high with a predominant neutrophilia, and systemic onset JA is normally associated with a significant elevation of the platelet count.

Hepatomegaly, splenomegaly, and lymphadenopathy commonly are found.

The fever must be present for at least 2 weeks. There may be a prolonged delay between the onset of fever and the development of arthritis, but a definitive diagnosis of systemic onset JA cannot be made until arthritis is present

Anaemia is often found

ESR usually significantly elevated, often >100 mm/hr.

Question 5

dsDNA is specific for….

Answer 5

SLE

Question 6

IL6 inhibitor infusion for systemic indent JIA or polyarticular JIA

Answer 6

Tocilizumab