Sclerosis

Question 1

What is Scleroderma?

Answer 1

Systemic sclerosis is a multi-system autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue, causing vascular damage and fibrosis of organ systems

It is a vasculiti condition affecting smallest vessels

It is classified into two main types, according to the extent of skin involvement.

Either limited cutaneous systemic sclerosis (CREST Syndrome) - The more common type of SSc.
Areas of skin affected include only the face, arms and feet.

Or Diffuse cutaneous systemic sclerosis where skin areas are everywhere

In severe cases 50% mortality at 5 years

Question 2

What will you find in a history of Sclerosis?

Answer 2

Symptoms:
General - Skin thickening of elbows and chest
Arthralgia/Myalgia
Telangiectasia - commonly of the fingers, palms, face, mucous membranes and stomach causing chronic GI bleeding and anaemia)
Can get subcutaneous calcinosis (small/localised/firm masses usually on fingers, forearms, or other pressure points)

Hands
Raynauds Phenomenon (Blood vessels in the peripheries spasm causing white/cold fingers for minutes to hours)
Digital ulcers on the bony prominence’s
Hand swelling (worse in the morning and improves as the day wears on)
Sclerodactyly (finger skin thickening which causes loss of hand grip)

Feet - Foot swelling (worse in the morning and improves as the day wears on)

GI- Heartburn/Dysphagia/Bloating due to lower oesophageal sphincter incompetence, and oesophageal/intestinal dysmotility
Faecal incontinence may occur due to loss of tone of the anal sphincter.

Respiratory - Dyspnoea and Dry crackles at bases Due to secondary ILD

Renal - Can cause a sudden AKI and Hypertension in a scleroderma crisis

Risk Factors:
Family history of the disease
Immune dysregulation
Inflammatory arthritis
Abnormal pulmonary function tests

Specific Questions to ask:
Ask about ulcers on fingers, raynauds can be primary but in this case would not cause ischaemia ulcers

Differentials:

Question 3

What will you find on examination of Sclerosis?

Answer 3

End of the bed:
Synovitis - joint tenderness on compression or squeezing

Hands:
Telangiectasia
Digital pits
Digital ulceration
Active Raynaud's phenomenon
Tendon friction rubs -  audible rub on movement of the  wrist, shoulder or elbow.
Subcutaneous calcinosis - Common on fingers, forearms and pressure points 
Skin thickening of elbow
Hands swelling
Dactilysis

Face:
Telangiectasia on the face and in the mouth
Small mouth
Beaking of the nose.

Chest:
Skin thickening on anterior chest

Legs:
Tendon friction rubs - audible rub on movement of the ankle or knee
Foot Swelling

Question 4

What investigations will you order in Sclerosis?

Answer 4

Bedside:
Urinalysis - Urine protein as baseline or if there are renal complications.
ECG - SOB, dry cough and reduced exercise tolerance could be heart failure. May demonstrate cardiac involvement such as arrhythmias

Bloods:
Serum Autoantibodies - positive ANA in more than 90% of patients
FBC - May be anaemic from chronic GI bleed
UnE - The onset of acute renal failure is a feature of scleroderma renal crisis
ESR/CRP - Can be raised, can be normal - why am i doing this haha

Imaging:
CXR - Important to evaluate interstitial lung disease.
Echo - Should be done at onset and on a yearly basis.RV or LV diastolic dysfunction can be seen with cardiomyopathy of scleroderma
HRCT if lung function tests abnormal

Special Tests:
Lung Funciton Tests - Important to evaluate for restrictive lung disease and for pulmonary hypertension. Should be done at onset and on a yearly basis.
Barium Swallow - Looking for dysmotility and reflux.

Question 5

What is the treatment of Sclerosis?

Answer 5

Lifestyle:
Patient education - No cure
Physiotherapy to promote joint mobility and muscle strength.
Stop smoking/Optimise BMI
Creams for skin dryness and itching
To limit Reynauds - avoid cold and trauma, during attack warm the body, hands and feet gently
OT review for house changes
Limit GI symptoms - maintaining upright posture after meals, raising the head of the bed, limiting alcohol

Medical: Treat individual symptoms
Immunosuppressive treatment. Agents used are methotrexate, mycophenolate mofetil or cyclophosphamide
Calcium Channel Blcoker (Nifedipine) for Raynauds
NSAIDs for Arthalgia/Myalgia
For upper GI symptoms - PPI
Scleroderma renal crisis is with ACE inhibitors, plus dialysis if necessary.