Connective Tissue Disease

Question 1

SLE

Answer 1

Systemic lupus erythematosus

Question 2

SSc

Answer 2

Systemic sclerosis

Question 3

The range of connective tissue diseases

Answer 3

• Systemic lupus erythematosus (SLE)
• Antiphospholipid syndrome
• Systemic sclerosis
• Polymyositis and dermatomyositis
• Sjogren’s syndrome
• Overlap syndromes

Question 4

What is lupus?

Answer 4

An auto-immune condition marked by inflammation, notably of the skin.

Question 5

In whom does SLE typically present?

Answer 5

Women of child bearing age with a genetic disposition.

Question 6

What is the clinical presentation of SLE?

Answer 6

Non-specific e.g malaise, fever, myalgia, fatigue.

Organ specific e.g lymphadenopathy, weight loss, alopecia, nail-fold infracts, non-infective endocarditis, Raynaud’s, stroke, retinal exudates, leukopenia.

Question 7

Raynaud’s phenomenon

Answer 7

Raynaud’s affects your circulation. It causes some areas of your body, like your fingers and toes, to change colour when you’re cold or stressed.

Question 8

How is SLE diagnosed?

Answer 8

1. Anti dsDNA antibody (ANA) tests.
2. Low C3 and C4 suggesting degradation of complement. - which is what causes the malfunction in the immunity pathway.
3. ESR and urinalysis for protein - linking to lupus nephritis.

Note: Think of SLE when someone has a multisystem disorder and raised ESR but CRP levels normal.

If CRP is raised think of infection, serositis and arthritis.

Question 9

How is SLE managed?

Answer 9

Topical steroids to manage flare-ups.

NSAID’s unless renal impairment.

Severe disease - immunosuppression with steroids.

Question 10

What is leukopenia?

Answer 10

Low number of leukocytes present in the blood.

Question 11

What is Libman-Sacks endocarditis (LSE)?

Answer 11

A form of non-bacterial endocarditis that is seen in association with systemic lupus erythematosus (SLE), antiphospholipid syndrome, and malignancies. It is one of the most common heart-related manifestations of lupus (the most common being pericarditis).

Question 12

Scleroderma

Answer 12

Hardened skin

Question 13

Systemic sclerosis

Answer 13

Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries.

Question 14

How does systemic sclerosis present?

Answer 14

Scleroderma (skin fibrosis commonly of the face, hands and feet), internal organ fibrosis, microvascular abnormalities.

Hypertension - important to control.

Raynaud’s phenomenon.

Question 15

Pulmonary hypertension can lead to what?

Answer 15

Right sided heart failure.

Question 16

How is systemic sclerosis treated?

Answer 16

No cure.

Manage Raynaud’s with calcium channel blockers and topical GTN (Glyceryl trinitrate).

Question 17

CREST syndrome

Answer 17

CREST syndrome is the limited cutaneous form of systemic sclerosis.

he acronym “CREST” refers to the five main features: calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia.

Question 18

Calcinosis

Answer 18

Calcinosis is the formation of calcium deposits in any soft tissue. It is a rare condition that has many different causes.

Question 19

Telangiectasia

Answer 19

Telangiectasia is a condition in which widened venules (tiny blood vessels) cause threadlike red lines or patterns on the skin. These patterns, or telangiectases, form gradually and often in clusters. They’re sometimes known as “spider veins” because of their fine and weblike appearance.

Question 20

Poly-myo-s-itis

Answer 20

Many muscles inflamed

Question 21

Polymyositis / Dermatomyositis

Answer 21

Polymyositis and dermatomyositis are disorders of the body’s connective tissues, which include tendons, ligaments and the dense sheets of collagen-based tissue that cover the ends of the muscles. These diseases cause swelling weakness and tenderness in the muscles (polymyositis) and sometimes the skin (dermatomyositis).

Auto-immune.

Question 22

How does dermatomyosititis present?

Answer 22

Myositis and skin signs:

Macular rash - Shawl sign over the back and shoulders.

Purple rash on the eyelids with oedema.

Nailfold erythema - dilated capilary loops.

Question 23

General presentation of polymyositis and dermatomyosititis.

Answer 23

Muscular signs: Proximal muscle weakness, soreness and tenderness. Can cause dysphagia, dysphasia and respiratory weakness.

Extra-muscular signs: Fever, arthralgia, Raynaud’s, interstitial lung fibrosis, myocarditis and arrhythmias.

Note can be paraneoplastic so screen for cancers.

Question 24

How is Polymyositis / Dermatomyositis diagnosed?

Answer 24

Muscle enzymes (ALT, AST, LDH, CK, aldolase) raised in plasma.

Muscle biopsy.

MRI shows muscle oedema in acute myositis.

EMG changes (Electromyography).

Question 25

How is Polymyositis / Dermatomyositis managed?

Answer 25

Prednisolone and immunosupressives.

Hydroxychloroquine is used to topical skin treatment.

Question 26

If you see inflamed purple eyelids think…

Answer 26

Question 27

Gottron’s papules are a sign of what condition?

Answer 27

Dermatomyositis

Question 28

Sjogren’s syndrome

Answer 28

Dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus.

Question 29

What is the most common form of vasculitis?

Answer 29

Giant cell arteritis.

Question 30

What is meant by limited and diffuse SSc?

Answer 30

This individual has skin thickening above the elbows and knees and on the chest and would be classified as having systemic sclerosis with diffuse scleroderma. An individual with skin thickening restricted to the face, forearms, hands and fingers would be said to have systemic sclerosis with limited scleroderma.