Connective Tissue Diseases

Question 1

underlying pathology behind systemic sclerosis

Answer 1

excessive collagen deposition causing skin and internal organ changes

Question 2

Condition most associated with systemic sclerosis

Answer 2

Raynauds

Question 3

3 phases of cutaneous involvedment in systemic sclerosis

Answer 3

oedematous, indurative, atrophic –> skin thickened and tight

Question 4

Organs affected in systemic sclerosis

Answer 4

lungs, kidneys, gut

Question 5

Affect of systemic sclerosis on the lungs

Answer 5

pulmonary fibrosis and hypertension

Question 6

Effect of systemic sclerosis on the kidneys

Answer 6

increased hypertension –> renal crisis

Question 7

Effect of systemic sclerosis on the gut

Answer 7

dysphagia, malabsorption, reflux, dysmotility

Question 8

Systemic sclerosis can be split into…

Answer 8

limited and diffuse

Question 9

Limited cutaneous sclerosis can be described by CREST, which stands for…

Answer 9

Calcinosis of the subcutaneous tissues, Raynauds, oEsophageal and gut dysmotility, Sclerodactyl, Telangiectasia

Question 10

Where is skin involvement limited to in limited systemic sclerosis?

Answer 10

face, hands and feet

Question 11

Autoantibody associated with limited systemic sclerosis?

Answer 11

Anti-centromere (70-80%), ANA

Question 12

Diffuse systemic sclerosis is…

Answer 12

rapid and widespread skin changes with early and significant organ involvement

Question 13

Autoantibody associated with diffuse systemic sclerosis?

Answer 13

Anti-scl70 (topoisermerase), ANA

Question 14

Investigations for systemic sclerosis

Answer 14

auto-antibodies, organ screening (lungs, kidneys, heart)

Question 15

Management of Raynauds in systemic sclerosis

Answer 15

Calcium channel blockers, iloprost (PGI2 analogue), bosentan (endothelin R antagonist)

Question 16

Management of renal involvement in systemic sclerosis

Answer 16

ACE-Is (ramipril), ARBs (losartan)

Question 17

Management of GI involvement in systemic sclerosis

Answer 17

PPIs - against reflux

Question 18

Management of ILD in systemic sclerosis

Answer 18

immunosuppression - cyclophosphamide

Question 19

main organs affected by SLE

Answer 19

skin, joints, kidneys, blood cells and nervous system

Question 20

What is the pathogenic mechanism behind SLE?

Answer 20

due to defect in apoptosis, increased cell death but also a delay in clearance of dead cells leads to persistence of antigens i.e. dsDNA and thus immune complex production. antibody-antigen complexes are deposited in the basement membranes of skin and kidneys

Question 21

The majority of SLE is in which group?

Answer 21

Women (11:1), 20-30 years

Question 22

General presentation of SLE (get 5/6)

Answer 22

fatigue, weightloss, fever, arthralgia, myalgia, malar rash, discoid lupus, ulceration, lupus nephritis, pleurisy/pleural effusion, leukopaenia, anaemia, pericarditis, autoimmune hepatitis

Question 23

Immunology for SLE diagnosis

Answer 23

ANA (95%, non-specific), anti-dsDNA (specific and varies with activity), anti-sm (specific but low sensitivity), C3/C4 (low when disease is active)

Question 24

What investigations should be done for SLE (3)?

Answer 24

Bloods (anaemia, leucopaenia, thrombocytopaenia), urinalysis (nephritis), immunology

Question 25

Management of SLE with skin and arthralgia

Answer 25

hydroxychlorquine, topic steroids and NSAIDs

Question 26

Mechanism of action of hydroxychloroquine

Answer 26

blocks APCs

Question 27

Management of SLE with organ involvement

Answer 27

immunosuppression with azathioprine or mycofenolate mofetil

Question 28

Management of SLE with severe organ involvement

Answer 28

IV steroids and cyclophosphamide

Question 29

Monitoring carried out with SLE

Answer 29

anti-dsDNA, BP, cholesterol, urinalysis

Question 30

What is the pathogenic mechanism in sjogrens syndrome?

Answer 30

lymphocitic infiltrates form in exocrine organs

Question 31

Common symptoms associated with sjogrens syndrome?

Answer 31

dry eyes and mouth, arthralgia, fatigue, vaginal dryness, parotid gland swelling

Question 32

Associated conditions with SLE

Answer 32

RA and SLE

Question 33

Which cancer risk is increased with SLE?

Answer 33

lymphoma

Question 34

Diagnosis of sjogrens syndrome is based on?

Answer 34

Anti-Ro and Anti-La antibodies and Schimers test

Question 35

Management of sjogrens is by...

Answer 35

symptomatic relief, eye drops, pilocarpine to stimulate saliva production, hydroxychloroquine to aid arthralgia and fatigue

Question 36

what is antiphospholipid syndrome?

Answer 36

a disorder that clinically manifests as recurrent venous or arterial thromboembolism

Question 37

Antibodies associated with antiphospholipid syndrome

Answer 37

Anti-cardiolipin, anti- b2glycoprotein

Question 38

Signs of Antiphospholipid syndrome

Answer 38

increased frequency of stroke or MI, recurrent pulmonary emboli, catastrophic APS, late spontaneous fetal loss, recurrent fetal loss (<10weeks), migraines, livedo reticularis (skin)

Question 39

Management of symptomatic Antiphospholipid patients?

Answer 39

anti-coagulation

Question 40

Management of symptomatic pregnant antiphospholipid patients

Answer 40

LMWH (dalteparin, enoxaparin) - warfarin is teratogenic

Question 41

Management of asymptomatic antiphospholipid patients

Answer 41

no anticoagulation

Question 42

what is catastrophic APS?

Answer 42

rare, serious and often fatal (50%) manifestation with multiple organ infarcts over days to weeks