systemic sclerosis

Question 1

definition of systemic sclerosis

Answer 1

Systemic sclerosis (SSc), also known as scleroderma, is a multi-system, autoimmune disease, characterised by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and production of auto-antibodies.

2 types:
- limited cutaneous
- diffuse cutaneous
The limited cutaneous form tends to have less severe internal organ involvement and a better prognosis, but these subjects still need to be followed closely for possible complications.
Clinical course is determined by extent of vascular and fibrosing complications. Vascular involvement includes Raynaud’s phenomenon, ischaemic digital ulcers, hypertensive crisis, and pulmonary arterial hypertension. Fibrosis can involve lungs, heart, and GI tract.

Initial symptoms are non-specific and include fatigue, vague musculoskeletal complaints, diffuse swelling of hands, and Raynaud’s phenomenon.

Question 2

epidemiology

Answer 2

more common in the western world, more in US than europe

Women are affected much more frequently than men, with a female-to-male ratio of about 5:1. Scleroderma is rare in childhood, is more common in young adults, and has a peak incidence in the 5th decade

Question 3

limited vs diffuse cutaneous systemic sclerosis

Answer 3

https://bestpractice.bmj.com/topics/en-gb/593/aetiology

Question 4

signs and symptoms

Answer 4

** limited cutaneous systemic sclerosis was previously known as CREST — calcinosis, raynaud’s syndrome, oesophageal dysmobility, sclerodactyly, telangiectasia (looks like petechiae)

hands/feet:

• raynaud’s
• digital pits or ulcers
• swelling of hands, feet
• skin thickening
• loss of hand function (due to sclerodactyly)
• carpal tunnel
• prayer hands
• changes in skin pigmentation

GI:

• bloating
• heartburn, reflux, dysphagia
• faecal incontinence (loss of tone in anal sphincter)
• arthralgias and myalgias
• abnormal nail fold capillaroscopy (compared to primary raynaud’s which would be normal)
• telangiectasia (on fingers, palm, face, mucous membranes)
• subcutaneous calcinosis (in more longstanding disease)
• fatigue
• tendon friction rub
• abrupt onset moderate/marked hypertension (renal involvement)

lungs:

• dyspnoea
• dry crackles at lung bases
• dry cough

Question 5

risk factors

Answer 5

• family history of scleroderma
• immune dysregulation (positive ana)
• silica dust exposure
• polyvinylchloride exposure (weak risk factor!!)

Question 6

investigations

Answer 6

1st investigations:
FBC
ESR
CRP
serum auto antibodies
urea, serum creatinine (check for renal crisis)
urine microscopy (check for renal crisis)
complete PFTs (check for lung involvement)
ECG (cardiac involvement)
CXR
barium swallow