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Review
. 2014 Jan;347(1):54-63.
doi: 10.1097/MAJ.0b013e3182a55d24.

The primary care physician in the early diagnosis of systemic sclerosis: the cornerstone of recognition and hope

Lesley Ann Saketkoo  1 , Jeanette H Magnus, Mittie K Doyle
Affiliations
Review

The primary care physician in the early diagnosis of systemic sclerosis: the cornerstone of recognition and hope

Lesley Ann Saketkoo et al. Am J Med Sci. 2014 Jan.

Abstract

Systemic sclerosis (SSc) is a disease of unknown causative factor that manifests as a heterogenous group of multiorgan system manifestations and is characterized by vasculopathy and fibrosis of the skin and internal organs, with mortality related to pulmonary, cardiac, renal or gastrointestinal involvement. The prevalence of SSc may be underestimated in the general population. Cases are often undiagnosed or misdiagnosed, particularly cases with mild or no skin manifestations. Because of late referrals to rheumatologic care, many moderate-to-severe cases progress to irreversible end-organ damage that might have been prevented by early diagnosis. Early diagnosis of SSc with initiation of appropriate treatment is essential, with great impact on morbidity and mortality. This review examines presenting features, ensuing complications and treatment providing a focus on SSc as a treatable disease. Primary care providers play a pivotal role in recognizing initial symptoms associated with SSc and securing early diagnosis through early referral to specialists.

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Conflict of interest statement

Conflicts of Interest

LAS has served as a consultant and/or clinical investigator for Actelion Pharmaceuticals, Gilead Sciences and Questcor and has received grant and in-kind support from EUSTAR, the Federation of European Scleroderma Associations, Pulmonary Hypertension Association, Scleroderma Foundation, the Scleroderma Society UK, World Scleroderma Foundation, Actelion Pharmaceuticals Ltd, Boehringer Ingelheim, Celgene Corp, Centocor, InterMune, Sigma-Tau Pharmaceutical and United Therapeutics. JHM has no conflicts of interest to declare. MD is an employee of Alexion Pharmacuticals and a former employee of Janssen Research & Development, Inc., a subsidiary of Johnson & Johnson and owns stock in Johnson & Johnson and has also served as a consultant or investigator for Actelion Pharmaceuticals.

Figures

Figure 1
Figure 1
Paul Klee, Tod und Feuer (Death and Fire), 1940. Zentrum Paul Klee. Reproduced from Hans-Jurg Suter, Paul Klee and His Illness: Bowed but Not Broken by Suffering and Adversity (Basel: S Karger, 2010), 191.
Figure 2
Figure 2
Patient with SSc and Raynaud’s phenomenon: image shows blanching due to lack of circulation;. Courtesy of EUSTAR, French National Scleroderma Center, University of Lille, Lille, France.
Figure 3
Figure 3
Capillaroscopy images. Early panel shows tortuosity and dilatation; active panel begins to show the drop out of capillaries with hemorrhages (darker areas in top right corner). Late panel shows severe disease with avascular areas and neoangiogenesis. Normal capillaroscopy included for comparison in upper left. Courtesy of EUSTAR, University of Genoa, Liguria, Italy.
Figure 4
Figure 4
Dry gangrene after severe digital ischemia. Courtesy of the Scleroderma and Sarcoidosis Patient Care and Research Center, Louisiana State University Health Science Center, Louisiana State University, New Orleans, Louisiana, USA.
Figure 5
Figure 5
Telangiectasias seen on hands of patient with SSc. Courtesy of Daniela Opris, Clinica de Medicina Interna si Reumatologie Spitalul Sf Maria-UMF Carol Davila, Bucuresti, Romania.
Figure 6
Figure 6
Scleroderma renal crisis. Arteriogram of kidneys: left: normal kidney; right:a kidney of a patient with scleroderma renal crisis. Courtesy of EUSTAR, University of Florence, Florence, Italy.
Figure 7
Figure 7
Esophageal dilatation on barium swallow causing severe heartburn and dysphagia. Courtesy of EUSTAR; University of Florence, Florence, Italy.
Figure 8
Figure 8
Watermelon stomach (gastric ectasia) in a patient with persistent fatigue and anemia. Courtesy of EUSTAR; University School of Medicine at Cochin Hospital, Paris, France.
See this image and copyright information in PMC

References

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