Systemic sclerosis (scleroderma)

Last reviewed: 18 Jul 2022
Last updated: 03 Feb 2022

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • Raynaud's phenomenon
  • digital pits or ulcers
  • swelling of the hands and feet
  • skin thickening
  • loss of function of hands
  • sclerodactyly
  • heartburn, reflux, and dysphagia
  • bloating
  • faecal incontinence
  • arthralgias and myalgias
  • abnormal nail-fold capillaroscopy
  • telangiectasia
  • subcutaneous calcinosis
  • dyspnoea
  • dry crackles at lung bases
  • tendon friction rub
  • abrupt onset moderate/marked hypertension
More key diagnostic factors

Other diagnostic factors

  • fatigue
  • dry cough
  • decreased exercise tolerance
  • weight loss
  • inflammatory arthritis
  • proximal muscular weakness (inflammatory myositis)
  • synovitis
  • increased accentuation of the pulmonic component of S2 heart sound
  • signs of anaemia
Other diagnostic factors

Risk factors

  • family history of scleroderma
  • immune dysregulation (e.g., positive ANA)
  • exposure to environmental substances and toxins (e.g., silica dust or solvents)
More risk factors

Diagnostic investigations

1st investigations to order

  • serum auto-antibodies
  • FBC
  • urea and serum creatinine
  • ESR
  • CRP
  • urine microscopy
  • complete pulmonary function tests (spirometry, lung volumes, and diffusing capacity measurement)
  • ECG
  • echocardiogram
  • chest x-ray
  • barium swallow
More 1st investigations to order

Investigations to consider

  • high-resolution CT scan of chest
  • upper gastrointestinal endoscopy ± biopsy
  • serum muscle enzymes
  • electromyogram/nerve conduction studies
  • muscle biopsy
More investigations to consider

Treatment algorithm

ACUTE

scleroderma renal crisis

cardiac tamponade

ONGOING

Raynaud's phenomenon: no ulcers

Raynaud's phenomenon: with digital ulcer development

generalised skin involvement

GI involvement

myopathy

synovitis, tendon friction rub, or inflammatory arthritis

interstitial lung disease

pericardial effusion

pulmonary arterial hypertension

Contributors

Authors

Maureen D. Mayes, MD, MPH
Maureen D. Mayes

Professor of Medicine

Division of Rheumatology and Clinical Immunogenetics

University of Texas Health Science Center

Houston Medical School

Houston

TX

Disclosures

MDM is an advisory board member for Boehringer-Ingelheim, Galapagos, Corbus, and Eicos. MDM is on the grant review board for Medtelligence. She receives royalties from Oxford University Press and Henry Stewart Talks. MDM is an author of a number of references cited in this topic.

Acknowledgements

Dr Maureen D. Mayes would like to gratefully acknowledge Dr Rajpreet K. Arora-Singh, a previous contributor to this topic. RKA declares that she has no competing interests.

Peer reviewers

Mary Ellen Csuka, MD

Associate Professor of Medicine

Department of Rheumatology

Medical College of Wisconsin

Milwaukee

WI

Disclosures

MEC has been reimbursed by: Actelion International (and is a member of its speakers bureau); Encysive Pharmaceuticals; and MediQuest Therapeutics. She is local principal investigator for the SCOT trial, sponsored by NIH.

Jerry Molitor, MD, PhD

Associate Professor

Division of Rheumatic and Autoimmune Diseases

Department of Medicine

University of Minnesota

Minneapolis

MN

Disclosures

JM declares that he has no competing interests.

Bridget Griffiths, MD, FRCP(UK)

Consultant Rheumatologist

Department of Rheumatology

Freeman Hospital

Newcastle Upon Tyne

UK

Disclosures

BG declares that she has no competing interests.

Ariane L. Herrick, MD, FRCP

Reader in Rheumatology and Consultant Rheumatologist

Musculoskeletal Research Group

University of Manchester

Manchester

UK

Disclosures

ALH declares that she has no competing interests.

  • Systemic sclerosis (scleroderma) images
  • Differentials

    • Primary Raynaud's phenomenon
    • Localised scleroderma (morphoea)
    • Mixed connective tissue disease
    More Differentials
  • Guidelines

    • Update of EULAR recommendations for the treatment of systemic sclerosis
    • 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer