Connective Tissue Disease

Question 1

what are the connective tissue diseases

Answer 1

SLE, sjogren’s syndrome, systemic sclerosis, dermatomyositis, polymyositis, mixed connective tissue disease, anti-phospholipid syndrome

Question 2

what are connective tissue diseases

Answer 2

spontaneous over activity of the immune system

specific auto-antibodies involves

diseases evolve over years sometimes leading to organ failure and death

Question 3

what is systemic lupus erthematosus

Answer 3

systemic autoimmune disease where the immune system attacks the bodys cells and tissue, resulting in inflammation and tissue (can affect any part of the body)

Question 4

what is the role of antibody-immune complexes in systemic lupus erythematous

Answer 4

precipitate and cause a further immune response

Question 5

who gets SLE

Answer 5

females 9:1 males

prevalence is higher in asians, afro- Americans and afro-Caribbeans

Question 6

what is the aetiology of SLE

Answer 6

genetic factors, environmental factors, immunological factors, hormonal factors (higher oestrogen exposure)

Question 7

what is the pathogenesis of SLE

Answer 7

loss of immune regulation

increased and defective apoptosis

necrotic cells release nuclear material which act as autoantigens

B and T cells stimulated

autoantibodies are produced

Question 8

how can SLE cause renal disease

Answer 8

deposition of immune complexes (nuclear antigens and anti-nuclear antibodies) in mesangium which activate complement which attracts leucocytes which release cytokines- perpetuates inflammation which causes necrosis and scarring

Question 9

what are immunologic diagnostic markers for SLE

Answer 9

positive ANA

anti DNA

Question 10

what system when affected can be used to diagnose SLE

Answer 10

mucocutaneous 
musculoskeletal
Serositis (inflammation of serous membranes)
renal 
neurological 
haematological

Question 11

what are the constititional symptoms of SLE

Answer 11

fever, malaise, poor appetite, weight loss, fatigue

Question 12

what are the mucocutaneous features of SLE

Answer 12

photosensitivity 
malar rash
discoid lupus erythematosus
subacute cutaneous lupus 
mouth ulcers
alopecia

Question 13

what is discoid lupus erythematosus

Answer 13

form of cutaneous lupus- inflammation, sore and scarring of skin especially over face, ears, scalp

Question 14

what is subacute lupus erythematosus

Answer 14

form of cutaneous lupus- lots of small papule or plaque with slight scaling that may merge

Question 15

what are the MSK features of SLE

Answer 15

non deforming polyarthritis/ polyarthraglia

deforming arthropathy (jaccoud’s arthritis)

myopathy (weakness, myalgia and myositis)

Question 16

what are forms of serositis

Answer 16

pericarditis, pleurisy, pleural effusion, pericardial effusion

Question 17

what are the renal features of SLE

Answer 17

proteinuria of >500mg in 24 hours

red cell casts (microscopic bleeding from kidney)

Question 18

what are the neurological features of SLE

Answer 18

depression/ psychosis 
migrainous headache
seizures
cranial or peripheral neuropathy 
mononeuritis multiplex

Question 19

what are the haematological features

Answer 19

lymphadenopathy 
leucopenia
lymphopenia 
haemolytic anaemia
thrombocytopenia

Question 20

what is anti-phospholipid syndrome

Answer 20

venous and arterial thrombosis

recurrent miscarriage

livido retiularis

association with other autoimmune conditions especially SLE

thrombocytopenia

prolonged APTT

Question 21

describe SLE patients’ susceptibility to infection- intrinsic factors

Answer 21

low complements

impaired cell mediated immunity

defective phagocytosis

poor antibody response to certain antigens

Question 22

describe SLE patients’ susceptibility to infection- extrinsic factors

Answer 22

steroids

other immunosuppressants

nephrotic syndrome

Question 23

what are investigations into SLE used for

Answer 23

to confirm/establish diagnosis

to determine degree of organ involvement

Question 24

what is ANA

Answer 24

anti-nuclear antibody

Question 25

when should a positive ANA test be taken seriously

Answer 25

if other antinuclear antibodies are present

• anti-dsDNA
• anti-Sm
• anti-Ro
• anti-RNP

when the patient presents with CTD features

Question 26

what is anti-dsDNA and what is it associated with

Answer 26

anti double stranded DNA antibody

lupus nephritis

Question 27

what is anti-Ro associated with

Answer 27

cutaneous manifestations, secondary Sjogren’s features, congential heart block and neonatal LE

Question 28

what are the anti- ENA antibodies

Answer 28

anti-Ro, anti-Sm, anti-RNP

Question 29

what are the anti-phospholipid antibodies

Answer 29

anti-cardiolipin
lupus anticoagulant
anti-beta 2 glycoprotein

Question 30

how do you monitor SLE activity

Answer 30

clinical assessment

Anti-dsDNA level positively correlates with activity

C3/C4 levels negatively correlate with activity

urine analysis for protein and casts

FBC

blood biochem

Question 31

what is the general management of SLE

Answer 31

counselling
regular monitoring
avoid excessive sun exposure
pregnancy issues

Question 32

what is the pharmacological treatment of SLE

Answer 32

NSAIDs and simple analgesia

anti malarials- hydroxychloroquine
(useful for arthritis, cutaneous manifestations and constitutional symptoms, may reduce systemic complications)

steroids: small doses- skin rashes, arthritis, serositis moderate doses- resistant serositis, haematologic abnormalities high doses- severe/ resisitant heamatological changes, renal disease, major organ involvement

immunosuppressants

biologics (rituximab, belimumab)

Question 33

what is the drug treatment for mild disease

Answer 33

HCQ, topical steroids, NSAIDs

Question 34

what is the drug treatment for moderate disease

Answer 34

oral steroids, azathioprine, methotrexate

Question 35

what is the drug treatment for severe disease

Answer 35

IV steroids, cyclophosphamide, rituximab, belimumab