Multi System Auto Immune Disesse

Question 1

What is the interaction between genetic and environmental factors in the pathogenesis of connective tissue disease?

Answer 1

X

Question 2

What is the role of various components of the immune system in the causation of tissue damage in connective tissue disease?

Answer 2

X

Question 3

What immunological tests used in the diagnosis of connective tissue disease?

Answer 3

ANA testing (+ve in most autoimmune conditions) 
Specifically: 
- SLE = dsDNA, Ro, Sm
- scleroderma = Scl-70, centromere
- polymyositis = Jo-1
- Sjogren’s = Ro, La

Question 4

What is the prevalence, presentation, diagnosis and clinical manifestations of: systemic lupus erythematous?

Answer 4

Prevalence: disease of the young, 28/100,000
Diagnosis: any 4 of the below
Manifestation/presentation: malar/discoid rash, photosensitivity, ulcers, arthritis of 2+ joints, serositis, renal probs, seizures/psychosis, haematological probs, immune probs, ana

Question 5

What is the prevalence, presentation, diagnosis and clinical manifestations of: scleroderma/systemic sclerosis?

Answer 5

Prevalence: 24/100,000, 30-50yo
Manifestation/presentation: thickened skin. Localised only affects the skin and can be morphoea eg discolour oval patches usually itchy or linear eg thickened lines of skin. Systemic comes as limited eg affects skin then lungs and GI, often begins as Raynauds, or diffuse eg affects internal organs, symptoms can include weight loss, fatigue, joint pain, stiffness
Diagnosis: clinical diagnosis based on exclusion of differential diagnosis and history + examination

Question 6

What is the prevalence, presentation, diagnosis and clinical manifestations of: Sjögren’s syndrome?

Answer 6

Prevalence: 40-60yo females, 3-6/100,000

Presentation/manifestation: dry eyes and mouth, parotid gland enlargement and 1/3 have systemic upset

Question 7

What is the prevalence, presentation, diagnosis and clinical manifestations of: polymyositis, dermatomyositis and mixed connective tissue disease?

Answer 7

Auto immune myositis
6/1,000,000
Presents with symmetrical, diffuse, proximal muscle weakness

Dermatomyositis: gottron’s papules (80%), heliotrope rash (30-60%)

Mixed connective tissue diseases over as symptoms include soft tissue swelling, raynauds, myositis, arthalgia

Question 8

How would you diagnose and manage giant cell arteritis?

Answer 8

Diagnose via GCA classification criteria (3 of):

• age at onset >50yo
• new headache
• temporal artery tenderness/reduced pulsation
• ESR >50
• abnormal temporal biopsy

Management: prednisolone, aspirin daily, PPI fo GI protection