Connective Tissue Diseases

Question 1

what are these conditions associated with?

Answer 1

spontaneous overactivity of the immune system

Question 2

three diseases in this category

Answer 2

1. SLE
2. Sjogren’s syndrome
3. systemic sclerosis

Question 3

define SLE

Answer 3

systemic AI condition

Question 4

who is SLE more common in?

Answer 4

women, Afro-Caribbean, Hispanic American, Asian and Chinese

Question 5

pathogenesis of SLE

Answer 5

there is loss of immune regulation and defective apoptosis. necrotic cell contents act as autoantigens. deposition of immune complexes causes activation of complement that attracts leucocytes and release of cytokines (scarring)

Question 6

presentation of SLE

Answer 6

• cutaneous= malar rash (butterfly), acute cutaneous lupus, discoid, oral ulceration and non-scarring alopecia
• arthritis (jaccouds arthropathy)
• neurological: delirium, psychosis, seizure, headache and cranial nerve disorder
• serositis e.g. pleural or pericardial effusion
• haematological e.g. leukopenia, thrombocytopenia, haemolytic anaemia and lymphadenopathy

Question 7

describe acute cutaneous lupus

Answer 7

well demarcated rash over nose and cheeks

Question 8

describe jaccouds arthropathy

Answer 8

there is a visible deformity but the XR is normal

tenderness in more than 2 joints with more than 30 minutes of morning stiffness

Question 9

diagnosis of SLE

Answer 9

• EULAR/ACR 2019 criteria score above 10

- autoantibodies

Question 10

autoantibodies involved in SLE

Answer 10

• dsDNA (specific and correlates with disease activity)
• ANA (can be present in healthy populations)
• APLS
• complement (C3 and C4 are low)
• renal: proteinuria >0.5g, biopsy for nephritis and red cell traces
• anti-Ro for neonatal lupus and congenital heart block
  anti-Sm is specific

Question 11

describe APLS in SLE

Answer 11

this has three antibodies including lupus anticoagulant, anti-cardiolipin and anti-beta2glycoprotein

Question 12

what is APLS associated with?

Answer 12

venous and arterial thrombosis and livedo reticularis

Question 13

management of SLE

Answer 13

• sun protection measures
• hydroxychloroquine (EVERYONE)
• minimise steroid use
• monitor disease activity with SLEDAI score
• immunosuppression e.g. cyclophosphamide

Question 14

define Sjogren’s syndrome

Answer 14

this is a multi system condition that affects the saliva producing parts of the body

Question 15

presentation of Sjogren’s

Answer 15

dry eyes, mouth, throat and vagina
bilateral parotid gland enlargement
joint pains (not isolated to)
overwhelming fatigue
unexplained dental caries

Question 16

diagnosis of Sjogren’s syndrome

Answer 16

• autoantibodies anti-Ro and anti-La
• raised IgG and ESR
• positive Schirmer’s test, often with infiltration and RA (eye)

Question 17

what is there an increased risk of in Sjogren’s

Answer 17

lymphoma

Question 18

organ surveillance in Sjogren’s?

Answer 18

not performed as less commonly associated with organ complications

Question 19

management of Sjogren’s

Answer 19

immunosuppressants

hydroxychloroquine

Question 20

define systemic sclerosis

Answer 20

multi-system AI disease characterised by vasculopathy, AI and fibrosis (skin changes)

Question 21

two types of systemic sclerosis

Answer 21

diffuse (involves internal organs more than limited)

limited

Question 22

cause of systemic sclerosis

Answer 22

patients have a genetic predisposition that is triggered by an environmental factor to cause vasculitis

Question 23

presentation of systemic sclerosis

Answer 23

CREST
calcium
raynauds
oesophageal dysmotility
sclerodactyly
telangiectasia

Question 24

diagnosis of systemic sclerosis

Answer 24

• autoantibodies e.g. anticentromere, anti-tiopoisomerase
• pulmonary function and ECHO
  consider risk of development of malignant hypertension and kidney failure

Question 25

management of systemic sclerosis

Answer 25

raynauds= CCB’s (nifedipine)

manage other diseases and steroids to prevent renal disease