Systemic Sclerosis

Question 1

What is systemic scelrosis

Answer 1

Also known as scleroderma, is a chronic, autoimmune connective tissue disease characterized by:
Fibrosis of the skin and internal organs, vasculopathy, and immune system dysregulation

Question 2

Two types of systemic sclerosis

Answer 2

Limited cutaneuous systemic scelrosis
Diffuse cutaenous systemic sclerosis

Question 3

Pathophysiology

Answer 3

Vascular dysfunction: Endothelial cell injury and activation resulting in vasospasm, intimal proliferation, and obliteration of the vascular lumen.
This process contributes to the development of Raynaud’s phenomenon, digital ulcers, and pulmonary arterial hypertension

Immune dysregulation: Abnormal activation of the innate and adaptive immune systems, including T cells, B cells, and APCs, results in the production of autoantibodies and pro-inflammatory cytokines, which contribute to tissue damage and fibrosis

Fibrosis: Activation of fibroblasts and their differentiation into myofibroblasts lead to excessive deposition of ECM components, including collagen, in the skin and internal organs, causing tissue fibrosis and organ dysfunction

Question 4

Clinical features - skin

Answer 4

Thickening, tightening, and hardening of the skin, which typically starts in the fingers and progresses proximally
Tight skin over the face
Small mouth
‘Beak’ nose

Question 5

Clinical features - vascular

Answer 5

Vasospasm-induced color changes (pallor, cyanosis, and erythema) in the fingers and toes in response to cold or stress

Question 5

Clinical features - GI

Answer 5

Dysphagia
Reflux
Hypomotility

Question 6

Clinical features - Pulmonary

Answer 6

Interstitial lung disease (ILD)
Pulmonary arterial hypertension (PAH) are common complications, which can cause SOB, cough, and chest pain.

Question 7

Clinical features - Renal

Answer 7

Scleroderma renal crisis, characterized by rapidly progressive renal failure and malignant hypertension
Life-threatening complication

Question 8

Clinical feaures - MSK

Answer 8

Joint pain, stiffness, and contractures due to fibrosis of the joint capsules and tendons

Question 9

What is limited cutaneous systemic sclerosis

Answer 9

Skin thickening is confined to areas distal to the elbows and knees
Often presents with Raynauds
Oragan involvement is less severe
High risk of pulmonary arterial HTN

Question 10

What is CREST syndrome

Answer 10

Subtype of limited cutaneous
Calcinosis
Raynaud’s phenomenon
oEsophageal dysmotility
Sclerodactyly
Telangiectasia

Question 11

What is diffuse cutaneous systemic scelrosis

Answer 11

Characterised by skin thickening that extends proximal to the elbows and knees
It can affect a large area of the body and progress rapidly
Internal organ involvement tends to be more severe

Question 12

What investigations do you do

Answer 12

FBC - normocytic anaemia
Autoantibodies:
Anti-Scl-70 - associated with diffuse
Anticentromere - associated with limited
Nailfold capillaroscopy:
Abnormal capillary patterns, including dilatation, avascular areas, and neoangiogenesis
CT - to look for lung disease

Question 13

Management

Answer 13

Organ based

Vasodilator therapy: Calcium channel blockers, phosphodiesterase-5 inhibitors, and prostacyclin analogues can help manage Raynaud’s phenomenon and digital ulcers, as well as pulmonary arterial hypertension

Immunosuppressive therapy: Corticosteroids, methotrexate, mycophenolate mofetil can be used to reduce inflammation and slow the progression of fibrosis

Gastrointestinal management: PPIs

Renal management: Prompt treatment with ACEIs is crucial in the management of renal crisis

Physical therapy and occupational therapy: These interventions can help maintain joint mobility, improve muscle strength, and address functional limitations.

Question 14

What is Raynauds phenomenon

Answer 14

Exaggerated vasoconstrictive response of the digital arteries and cutaneous arteriole to the cold or emotional stress

It may be primary (Raynaud’s disease) or secondary (Raynaud’s phenomenon).

Question 15

Causes of secondary Raynauds phenomenon

Answer 15

CT disorders
Scleroderma
RA
SLE
Leukaemia
Use of vibrating tools
Ooral contraceptive pill
cervical rib