Systemic Sclerosis/Scleroderma/CREST

Define systemic sclerosis

a chronic autoimmune, inflammatory, fibrotic connective tissues disease.

describe the demographics and prognosis of systemic sclerosis

Usually affects women (3:1 ratio compared to men)

Progressive disease with no cure

50% 10 year survival rate

List the two types of systemic sclerosis and describe the two types

Limited cutaneous and diffuse cutaneous systemic sclerosis. LCSS mostly affects the skin and peripheral organs, sparing the trunk and proximal peripheries and internal organs. Symptoms developed consistent with CREST syndrome.

Systemic cutaneous sclerosis is CREST syndrome plus internal organ involvement like kidneys, heart and muscles.

Describe the symptoms of limited cutaneous systemic sclerosis including a possible late feature.

C- calcified nodules, usually on the fingertips and extensor surfances

R - raynaud’s phenomenon, triggered and very sensitive to cold

E - oesophageal dysmotility, causing possible malabsorption (leading to anaemia), acid reflux/GORD and dysphagia.

S - sclerodactyly, increased skin tightening, especially on the hands giving it a claw like appearance and the mouth causing perioral scleroderma (mouth looks tiny and tight). Sclerodactyly/scleroderma of the skin can cause restricted ROM, loss of fat pads, and ulcerations of the skin that is difficult to heal and can lead to chronic problems. Assess with prayer sign.

T - Telangiectasia, - reddish rash secondary to rupture of capillaries, can be either on face or other areas of the body.

Describe the non-skin manifestations of Diffuse cutaneous systemic sclerosis

Heart

• Hypertension/systemic hypertension

• Coronary artery disease

Kidneys - can exacerbate systemic HTN

• Glomerulonephritis/Interstitial Nephritis

  • Proteinuria + haematuria

• Acute Sclerodermal Renal Crisis

  • Acute condition causing severe hypertension + acute renal failure

Lungs

• Pulmonary Fibrosis → interstitial lung disease

  • progressive dry cough and SOB

• Pulmonary artery hypertension

Muscles/Joints

• Myopathy

• Arthropathy

Gastrointestinal

• GORD/dyspepsia/oesophagitis

• GI Bleeding?

Haematology

• Anaemia: secondary to malapsorption, iron deficiency or upper GIB

• Haemolysis: loss of RBC

• Reactive thrombocythemia: due to dysfunction of endothelium

Describe the skin manifestations of Diffuse Cutaneous systemic sclerosis

Compared to LCSS, diffuse cutaneous SS can affect the skin proximal to the elbows and knees and also affect the trunk.

• Raynauds phenomenon

• Calcified nodules - hard, painful nodules under the skin secondary to calcium deposits

• Sclerodactyly - hardening and tightening of the skin on fingers causing a claw like appearance. Increases the risks of ulceration that is difficult to heal, restriction of ROM and loss of fat pads. No normal skin folds

• Perioral scleroderma - tightening of the skin around mouth

• Puffy hand appearance

• Telangiectasia

• Puffy hand appearance - ?secondary to sclerodactyly

What autoantibodies would you order to investigate a for systemic sclerosis?

ANA: non-specific

Anti-centromere antibodies: associated with limited cutaneous SS

Anti-SCL 70 antibodies: associated with diffuse cutaneous SS

What other tests would you order in a SS patient?

FBC

• Anaemia

• Reactive thrombocythemia (high Plts)

• Haemolysis (low RBC)

Renal Function Tests

• high Cr

CRP

ESR

• raised

Urinalysis:

• alb:cr ratio, proteinuria, haematuria

CK - raised

PFTs

• low FVC - ILD picture

• low DLCP - suggests PAH

ECHO

• RHF ?due to Pulmonary artery pressure

Nailfold Capillaroscopy

• haemorrhages

• avascular areas

• abnormal capillaries

Non-pharmaceutical management of SS and/or advice

Stop smoking

Regular exercise

skin stretching techniques

physiotherapy - strengthen joints

OT

Splints for ROM

Avoid cold

Medical management of SS and what they’re for

Immunosuppression

• MTX, hydroxycholoroquine, cyclophosphamide, mycophenolate

Topical ointments

• emollients to prevent ulceration, comfort

Anti-hypertensives

• ACEi for systemic hypetnsion

• Sildanefil (PDE inhibitor), Iloprost (prostacyclin analogue) for Pulmonary artery hypertension

Dysphagia targets

• supportive cares, dilatation, omeprazole for GORD

Analgesia

• NSAIDs for joint pain - careful of AKI

• for calcinosis

Raynauds

• nifedipine, avoid cold weather

PAH

• Sildanefil (PDE inhibitor)

• Iloprost (prostacyclin inhibitor)

• Ambrisentan

Malapsoprtion

• iron supplements (ferrous sulphate)

• Folic acid

Calcinosis

• excision

What diagnostic criteria would you use to diagnose systemic sclerosis

EULAR or ACR criteria

Clinical features

nail fold capilliroscopy

autoantibody +ve

List the possible complications of systemic sclerosis

heart: CAD, HTN —> increased risk of stroke + TIA

Lungs: ILD, SOB, chronic cough, pulmonary artery HTN leading to RHF or systemic HTN

Esophageal dysmotility - dysphagia, GORD, b12 deficiency (tachycardia, nausea, weak muscles, trouble walking)

Calcinosis: difficulty moving hands, painful

Kidneys: urinary symptoms secondary to GN

myopathies/arthropathies

Anaemia - fatigue

Immunosuppression side effects: diabetes, infections

Ulcers - from sclerodactyly

What signs on exam would you be looking for?

General

• telangiectasia

• cushingoid appearance

• ulcers of feet

Rheumatoid hand exam

• calcinosis: hard nodules

• claw like appearance

• prayer sign

• puffy hand appearance

• raynauds

• sclerodactyly

• restricted ROM

• ulcers

Resp exam

• inspiratory crackles (ILD)

• signs of Resp distress

GALs

• other joint issues/pain

Abdo

• telangiectasia

• epigastric tenderness

Peripheral

• ulcers

• pulses

Heart

• murmurs? pacemakers?