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
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
Risk factors
- FHx of scleroderma
- immune dysregulation (e.g., positive ANA)
- exposure to environmental substances and toxins (e.g., silica dust or solvents)
Diagnostic investigations
1st investigations to order
- serum auto-antibodies
- FBC
- urea and serum creatinine
- ESR
- C-reactive protein (CRP)
- urine microscopy
- complete PFTs (spirometry, lung volumes, and diffusing capacity measurement)
- ECG
- echocardiogram
- CXR
- barium swallow
Investigations to consider
- high-resolution CT scan of chest
- upper GI endoscopy ± biopsy
- serum muscle enzymes
- EMG/nerve conduction studies
- muscle biopsy
Treatment algorithm
Contributors
Authors
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, Genentech and Astellas. She receives royalties from Oxford University Press for "The Scleroderma Book: A guide for patients and families". MDM is an author of a number of references cited in this monograph.
Dr Maureen D. Mayes would like to gratefully acknowledge Dr Rajpreet K. Arora-Singh, a previous contributor to this monograph. RKA declares that she has no competing interests.
Peer reviewers
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.
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.
Consultant Rheumatologist
Department of Rheumatology
Freeman Hospital
Newcastle Upon Tyne
UK
Disclosures
BG declares that she has no competing interests.
Reader in Rheumatology and Consultant Rheumatologist
Musculoskeletal Research Group
University of Manchester
Manchester
UK
Disclosures
ALH declares that she has no competing interests.
Use of this content is subject to our disclaimer