Autoimmune connective tissue diseases

Question 1

What sex does systemic sclerosis tend to affect?

Answer 1

female

Question 2

What are the features of SS?

Answer 2

i. scleroderma (skin fibrosis)
ii. Internal organ fibrosis
iii. Microvascular abnormalities

Question 3

What marker is positive in 90% of those w SS?

Answer 3

ANA

Question 4

What are the two main types of SS?

Answer 4

1. Limited cutaneous SS

2. Diffuse cutaneous SS

Question 5

How does limited cutaneous SS present?

Answer 5

Scleroderma affects face, hands and feet
CREST syndrome
C - calcinosis
R - raynauds 
E - oesophageal dysmotility
S - sclerodactyly
T - telangiectasia

Question 6

What is limited cutaneous SS associated w ?

Answer 6

anti-centromere abs

Question 7

What is an important life threatening complication of limited cutaneous SS? how is this treated?

Answer 7

pulmonary HTN

rx: sildenafil, bosentan

Question 8

What is diffuse cutaneous SS associated w ?

Answer 8

anti-topoisomerase-1 (SCL-70) abs

Question 9

How does diffuse cutaneous SS present? What can increase mortality in this condition?

Answer 9

i. scleroderma affecting trunks and proximal limbs

ii. resp involvement - interstitial lung disease, pulmonary arterial HTN

Question 10

What is the management of diffuse cutaneous SS?

Answer 10

control BP meticulously 
annual echo and spirometry 
NO cure
IV cyclophosphamide for organ involvement or progressive skin disease
ACEi/ARBs for renal

Question 11

What is mixed CTD?

Answer 11

Combine features of SS, SLE and polymyositis

Presence of high titres of anti-U1 ribonucleoprotein (RNP)

Question 12

What is relapsing polychondritis?

Answer 12

rare condition w recurrent episodes of cartilage inflammation and destruction

Question 13

What parts of the body are affected in relapsing polychondritis? How does this mean it presents?

Answer 13

pinna
nasal septum 
larynx - stridor 
trachea and bronchi - infection
joint

Question 14

What is the treatment of relapsing polychondritis?

Answer 14

steroids
DMARDs
CPAP/tracheostomy

Question 15

What is sjogrens syndrome?

Answer 15

autoimmune disease affecting bodies moisture producing glands (exocrine) resulting in dry mucosal surfaces

Question 16

What gender is more commonly affected in sjogrens?

Answer 16

female 9:1

Question 17

What are the causes of sjogrens?

Answer 17

may be primary or secondary to RA or other CTDs

Question 18

What does sjogrens increase the risk of ?

Answer 18

lymphoid ca

Question 19

How does sjogrens present?

Answer 19

dry eyes (keratoconjunctivitis sicca)
dry mouth 
vaginal dryness
arthralgia + myalgia
raynauds
sensory polyneuropathy
parotitis
renal tubular acidosis

Question 20

What investigations would u do for sjogrens?

Answer 20

i. rheumatoid factor (+ve)
ii. ANA (+ve in 70%)
iii. Anti-Ro (SSA) in 70% w PSS
iv. Schirmers test - filter paper near conjunctival sac to measure tear formation
v. Histology - focal lymphocyte infiltration

Question 21

What is the treatment of sjogrens?

Answer 21

artificial saliva + tears

Pilocarpine - may stimulate saliva production