ICD-10: M34.0 (diffuse form) M 34.1 (Limited Crest Form)

Diagnosis is based on

• Disease history
• Medical Examination Findings
• Antibodies

Disease history

Time of symptom debut (Raynaud's phenomenon and other symptoms) and for diagnosis

* (Star) marks the symptoms and research findings that are included in ACR-EULAR Criteria (2013):

Symptoms

• *Raynaud's phenomenon (three-phase)
• Non-Raynaud's manifestations
  • *Sclerodactylia (hard skin on fingers)
  • Proximal / distal for MCP joints
  • *"Puffy Hands" (Fingers)
  • *Ulcera or pitting scars (substance defect) at the fingertips
  • * "Pitting scars" (scars and scabs) after sores on fingerpulpa
  • *Telangiectasia (limited form)
  • * Capillaroscopy pathological
  • * Pulmonary hypertension
  • *Interstitial lung disease (ILD)
  • *Antibodies CENP (restricted form) or Scl70 / topoisomerase (diffuse form), RNA polymerase III (risk of kidney / renal crisis)
• Other disease manifestation
  • Gastro-oesophageal reflux
  • Ingestion (esophagus, dysmotility)
  • Breathing Problems
    • Heavy breath at load
    • Dry Cough)
  • Calcinate subcutaneously (limited form, CREST) ​​(other calcinesis causes here)
  • Hard skin proximal for elbows / knees or on the chest, stomach or back (systemic sclerosis, diffuse form)
  • Abdominal pain and / or low hemoglobin (anemia), GAVE (gastral anterior ventricular ectasia) (by diffuse form of systemic sclerosis)
  • Fecal pattern (bacterial overgrowth)
  • Fecal incontinence
  • Renal crisis with malignant blood pressure increase and increasing kidney failure (systemic sclerosis, diffuse form)
  • Dry eyes, mouth or vaginal (secondary Sjögren's syndrome)
  • Dry cough, stress dyspnoea (lung involvement)
  • Malabsorption, diarrhea, fecal incontinence.
    • Weight Loss (Kg) Last 3 Months?
• Treated with Nifedipine (Adalat), Proton pump inhibitor, Sildenafil (Revatio, Viagra), Bosentan (Tracleer) and / or immunosuppressive drugs mycophenolate (CellCept), cyclophosphamide (Sendoxan), HMAS

Clinical examination

• Blood pressure and weight
• Heart
  • Auscultation
• Lungs
  • Auscultation
• Edema or dyspnoea (functional failure: heart (Pulmonary hypertension), lungs, kidneys)
• Abdomen meteoristic (bacterial overgrowth)?
• Skin
  • Visible Raynaud's phenomenon
  • Sclerodactylia
    • Hard, tight skin on your fingers
  • "Puffy Hands"
    • Dense, diffuse swollen fingers
  • Diffuse form
    • Proximal distribution of elbows and knees, truncus, face and throat
    • Tendon friction rub (late-onset, diffuse form)
  • Limited form
    • Spread on hands, maximal up to elbows and feet maximum up to knees
  • Tight and wrinkled around the mouth (Carp Mouth)
    • Telangiectasia
    • Calcinosis (X-rays of hands?)
  •  Rodnan skin score
• Visible Raynaud's phenomenon
• Ulcera or pitting scars (Substance defect on fingertips)
• Dryness disorders from the eyes and mouth (Secondary Marine Border Syndrome)

Supplementary medical investigations

Radiological examinations

• X-ray examination of the esophagus (dynamic with ingestion of contrast agent) or manometry (dysmotility, stenoses, reflux)
• CT examination / HRCT of lungs (milk glass, fibrosis or extended pulmonary artery (more than 3,5cm) at suspected Pulmonary hypertension)
  • More than 20% lung tissue infection suggests serious lung involvement
• MRI of the heart
  • Can detect fibrosis in the heart muscle

Lung function tests

• Lung function tests (FEV1, FVC, DLCO% of expected)
  • Severe lung manifestation: FVC less than 70% and CT examination show more than 20% attacked lung tissue. Similarly, if FVC and DLCO fall by 10% and 15%, respectively, each year
    • Immunosuppressive therapy with cyclophosphamide or mycophenolate should be considered

Capillaroscopy

• Mega capillaries, bleeding, "bushy" capillaries

6-minute walk test

• The distance traveled during the 6 minute maximum, but even times
• Can be done in a corridor with a measured distance of trained health personnel with emergency medical access
• Registration of oxygen saturation and Borg's Dyspne Index (scale 0-10) before and immediately after the test
• Reference: ATS statement: guidelines for the six-minute walk test

Echocardiography

• Pulmonary hypertension: In echocardiography estimated pressure over 35mmHg (systolic)

Cardiac examination

• Pulmonary hypertension: Medium pressure at right cardiac cat examination shows above 25mmHg

Blood tests

• Antibodies
  • ANA, ENA
  • CENP / anti-centromer: limited form,
  • SCL-70 / topoisomerase I: diffuse form
  • PM-Scl 100 or PM-Scl 70 indicates Myositis-overlapp, Scleromyositis and (check muscle power, atrophy and creatine kinase (CK), if any) electromyography (EMG) and MRI examination of thigh muscles). Consider doing a muscle biopsy
  • U3-RNP increased risk of Pulmonary hypertension
  • RNA polymerase III: increased risk of renal crisis
• Creatinine in serum
• CK in serum (myositis overlap, scleroderma myositis)

Follow-up for systemic sclerosis

• Please see dedicated page here

Referral to specialist

Local rheumatology department should be preferred. In Oslo: Rheumatology Department, Rikshospitalet: Postbox 4950 Nydalen, 0424 OSLO. The department receives patients from the Health Region South East and from all over the country when the capacity allows.

Uncertain diagnosis?

• Please see differential diagnoses for systemic sclerosis here

Norwegian Directorate of Health (Supervisor for referrals)

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• Systemic sclerosis, BINDEVEVSSYKDOMMER.no
• Bindevevssykdommer.no
• Vaskulitt.no