Connective tissue disease and sarcoid

Question 1

What is sarcoid disease?

Answer 1

When inflamed cells join together to form granulomas around the body

• > 90% have lung involvement
• 30% have extra-pulmonary sarcoid
• 50 – 60% of people have spontaneous remission
• 10% may develop chronic or progressive disease

Question 2

What is the pathophysiology of sarcoid disease?

Answer 2

Genetic and environmental onset (Autoimmune)
- A cell-mediated immune response is activated causing an accumulation of T-cells and macrophages

Question 3

Who is most likely to get sarcoid disease?

Answer 3

• Men
• Ages 20-40
• Irish, African American, and west Indian populations get worse disease

Question 4

What is the clinical presentation of sarcoid disease?

Answer 4

Most common:
- Erythema nodosum
- SOB and persistent dry cough

• Systemic features like fatigue, night sweats, weight loss
• 15% have elevated serum ACE

Question 5

What is Lofgren’s syndrome?

Answer 5

A triad for the common presentation of sarcoidosis

1. Fever
2. Erythema nodosum
3. bilateral hilar adenopathy

Also associated with migratory arthritis especially in ankles

Question 6

What is acute sarcoid arthritis?

Answer 6

It’s usually self-limiting with no permanent consequences

• Mostly oligoarticular (87%)
• Typically symmetrical (76%)
• Most commonly affects ankles (> 90%) and knees
• Periarticular soft tissue inflammation
• Tenosynovitis Eg. Achilles tendonitis
• Heerfordt’s syndrome (anterior uveitis, parotid gland enlargement, facial nerve palsy (compression by parotid), and fever)

Question 7

How long does sarcoidosis usually last for?

Answer 7

Usually no more than 2 years
- There may be flare ups with stress and acute disease

Chronic if lasts >2 years (1-2% of patients)

Question 8

What are the features of chronic sarcoidosis?

Answer 8

Usually in older population

• Parenchymal lung disease
• Skin disease
• 50% have elevated ACE
• Hypercalcaemia
• Joints affected

Question 9

Which organs may get affected by sarcoidosis?

Answer 9

Pretty much everywhere
- Especially lungs

Question 10

What are the treatment options for sarcoidosis?

Answer 10

• Nothing for stage 1 asymptomatic disease
• Oral corticosteroids for progressive lung disease or severe other organ disease (Prednisolone 4 weeks then reduce dose and treat for 6-24 months)
• Consider steroid sparing agents: methotrexate, azathioprine, hydroxychloroquine
• Offer Anti-TNF

Question 11

What is sclerodactyly?

Answer 11

Localised thickening and tightness of the skin of fingers and toes

Caused by autoimmune systemic sclerosis

Question 12

What is scleroderma?

Answer 12

Autoimmune inflammation and fibrosis of the skin
- Can be localised or systemic

Symptoms:
- Often starts as Raynaud’s
- Thickening of the skin over the hands, feet and face
- Red spots on the skin
- Hard lumps under the skin
- Heartburn
- dysphagia

Question 13

What are ENA antibodies?

Answer 13

AKA Extractable nuclear antigen

Detected in autoimmune diseases like:
- SLE
- Sjögren’s syndrome
- Mixed connective tissue disease (MCTD)
- Scleroderma
- Polymyositis

Question 14

What is polymyositis?

Answer 14

Autoimmune inflammation of muscles that eventually causes them to break down

Begins as symmetrical weakness of proximal muscles