Connective Tissue Disease Part 2

Question 1

what generally causes autoimmune disease?

Answer 1

breakdown of immunological tolerance to autoreactive immune cells
genetic, environmental and infectious pre-disposing mechanisms

Question 2

what type of immune response is typically involved in autoimmunity?

Answer 2

adaptive

• cell mediated
• humoral

Question 3

can autoimmune conditions coexist?

Answer 3

yes
overlap syndrome
- has features of more than 1 disease but cant be clearly defined as one type

Question 4

who is autoimmune disease more common in?

Answer 4

women

Question 5

2 types of autoimmune disease?

Answer 5

primary

secondary (due to another condition)

Question 6

what are autoimmune diseases associated with?

Answer 6

auto antibody formation

Question 7

when do you suspect autoimmune disease?

Answer 7

young women of joint and muscle problems
photosensitivity/malar rash
raynauds
sicca symptoms (dryness in mucosal areas) - in absence of other causes
dysphagia, SOB
neurological symptoms
pregnancy problems
unprovoked thrombosis

Question 8

how are antibodies used in diagnosis of autoimmune disease?

Answer 8

more specific then sensitive
ANA = general test for all autoimmune test
- higher titre = more significant
if ANA positive, sample analysed for other antibodies

Question 9

what is raynauds?

Answer 9

in 90% of systemic sclerosis

vasospasm causing white fingers in cold

Question 10

types of raynauds?

Answer 10

primary (benign, gets better in summer)

secondary = with autoimmune, doesn’t improve

Question 11

3 phases of raynauds?

Answer 11

1 = ischaemia (become pure white)
2 = cyanosis (blueish)
3 = rubor = (redness as blood returns)

Question 12

what indicates secondary raynauds?

Answer 12

ulcers or gangrene in hands

Question 13

how is raynauds treated?

Answer 13

keep warm
vasodilation - CCBs, PDE5 inhibitors
prostacycline inhibitors for finger ulcers
botox injections
endothelin receptor antagonists

Question 14

systemic sclerosis vs scleroderma?

Answer 14

scleroderma = thickening of skin (symptom of systemic sclerosis)

Question 15

what are the 2 main features of systemic sclerosis?

Answer 15

scleroderma

raynauds

Question 16

what are the 2 types of systemic sclerosis?

Answer 16

diffuse

limited

Question 17

what is diffuse systemic sclerosis?

Answer 17

skin on extremities above and below elbows and knees plus face and trunk

Question 18

what is limited systemic sclerosis?

Answer 18

skin on extremities only below elbows and knees plus face

Question 19

pathogenesis of systemic sclerosis?

Answer 19

genetic predisposition + etiologic agent > endothelial cell and vascular alterations > chronic inflammation > fibroblasts, fibrocytes, endothelial cells activated > myofibroblasts > vasculopathy and tissue fibrosis

Question 20

what causes skin thickening in systemic sclerosis?

Answer 20

fibrosis

Question 21

what is CREST?

Answer 21

symptoms of systemic sclerosis
C = calcinosis
R = raynauds
E = esophageal dysmotility
S = sclerodactyly (thickening/tightening of hand skin)
T = telangiectasias (dilated blood vessels)

Question 22

why is lung fibrosis common in SS?

Answer 22

fibroblasts are activated

Question 23

how can SS cause pulmonary hypertension?

Answer 23

causes pulmonary fibrosis which restricts blood flow in pulmonary arteries

Question 24

what does lupus cause in the kidney?

Answer 24

glomerulonephritis (inflammation)

Question 25

what does SS cause in the kidneys?

Answer 25

fibrosis increases pressure | no inflammation

Question 26

2 main antibodies of SS? how do they appear?

Answer 26

Anticentromere antitopoisomerase if you have one you don't have the other

Question 27

does everyone with SS have autoantibodies present?

Answer 27

no

Question 28

how is SS managed?

Answer 28

treat raynauds and hand ulcers treat reflux immunosuppression for pulmonary fibrosis and skin involvement tight control of BP - ACE inhibitors pulmonary hypertension - prostacyclin analogues, endothelin receptor antagonists, PDE5 inhibitors

Question 29

what is sjogrens syndrome?

Answer 29

multisystem autoimmune disease more common in men | lymphocytic infiltration of exocrine glands

Question 30

main symptom of Sjogrens disease?

Answer 30

Main symptom = sicca | ask about dryness in eyes, mouth and vagina

Question 31

what cancer are people with autoimmune diseases more at risk of?

Answer 31

lymphoma

Question 32

other symptoms of sjogrens?

Answer 32

``` blepharitis salivary gland inflammation tooth decay lymphoma dry cough multisystem involvement ```

Question 33

sjogrens specific antibodies?

Answer 33

anti Ro | anti La

Question 34

how is sjogrens diagnosed?

Answer 34

``` usually ANA positive anti La and anti Ro high ESR/plasma viscosity raised IgG cytopenia if antibodies are negative - salivary gland biopsy ```

Question 35

how is sjogrens treated?

Answer 35

``` artificial tears salivary supplements vaginal lubricants strong fluoride toothpaste Hydroxyquinone for fatigue and arthralgia immunosuppression if organ involvement ```

Question 36

what is antiphospholipid antibody syndrome?

Answer 36

antiphospholipid antibodies cause the blood to become more coagulable - anticardiolipin antibody - lupus anticoagulant - beta 2 glycoprotein

Question 37

what must be present for antiphospholipid SYNDROME?

Answer 37

antibodies present on 2 occasions 12 weeks apart pregnancy problems early or late loss) thrombosis

Question 38

when do you suspect antiphospholipid syndrome?

Answer 38

young person with unprovoked thrombosis | several pregnancy losses

Question 39

primary vs secondary antiphospholipid syndrome?

Answer 39

``` primary = no underlying cause secondary = often due to lupus ```

Question 40

how is antiphospholipid syndrome treated?

Answer 40

lifelong anticoagulation if thrombosis | LMWH and aspirin pre and post pregnancy

Question 41

how does Antiphosphlipid syndrome look?

Answer 41

mottling on legs | = levido reticularis

Question 42

why is anti Ro dangerous?

Answer 42

can cross the placenta into the foetus and cause congenital heart block

Question 43

when is immunosuppression used in autoimmune disease?

Answer 43

if there is major organ involvement | if not - HCQ involvement