Gastrointestinal manifestations of systemic sclerosis (scleroderma)
- Stephanie A Kaye-Barrett, MD
Stephanie A Kaye-Barrett, MD
- Consultant and Honorary Lecturer in Rheumatology
- The Chelsea and Westminster Hospital
- Christopher P Denton, MD
Christopher P Denton, MD
- Professor of Experimental Rheumatology
- Royal Free Hospital, London
- Section Editors
- John S Axford, DSc, MD, FRCP, FRCPCH
John S Axford, DSc, MD, FRCP, FRCPCH
- Section Editor — Scleroderma
- Emeritus Professor of Rheumatology
- St George's University of London
- Nicholas J Talley, MD, PhD
Nicholas J Talley, MD, PhD
- Section Editor — Motility Disorders
- Professor of Medicine, University of Newcastle, Australia
- Adjunct Professor of Medicine and Epidemiology and Consultant, Mayo Clinic, Rochester, MN
- Adjunct Professor, University of North Carolina
- Deputy Editors
- Monica Ramirez Curtis, MD, MPH
Monica Ramirez Curtis, MD, MPH
- Deputy Editor — Rheumatology
- Instructor of Medicine
- Harvard Medical School
- Shilpa Grover, MD, MPH, AGAF
Shilpa Grover, MD, MPH, AGAF
- Deputy Editor — Gastroenterology/Hepatology
- Assistant Professor of Medicine, Part-time
- Harvard Medical School
The systemic manifestations of systemic sclerosis (SSc, scleroderma) are diverse. Most prominent are abnormalities of the circulation (most notably Raynaud phenomenon) and involvement of multiple organ systems, including the musculoskeletal, renal, pulmonary, cardiac, and gastrointestinal (GI) systems, with fibrotic and/or vascular complications. GI symptoms can cause significant morbidity [1,2].
This topic will review the pathogenesis, clinical manifestations, and diagnosis of GI disease in SSc. Management of GI disease in SSc is discussed separately. (See "Treatment of gastrointestinal disease in systemic sclerosis (scleroderma)".)
Nearly 90 percent of patients with systemic sclerosis (SSc) have some degree of gastrointestinal (GI) involvement, and approximately one-half are symptomatic [3,4]. Involvement of the gut occurs with equal frequency among patients with the diffuse and limited subtypes of SSc (dcSSc and lcSSc, respectively) . It is rare in localized scleroderma syndromes . (See "Overview and classification of scleroderma disorders", section on 'Localized scleroderma' and "Overview and classification of scleroderma disorders", section on 'Limited and diffuse cutaneous SSc'.)
Although the esophagus is the most frequently affected part of the GI tract, any part of the GI tract may be involved. The presence of malabsorption and esophageal dysfunction among patients with SSc is associated with an unfavorable prognosis [7-9]. In one study that included 264 patients with dcSSc, GI involvement was associated with poor survival. Among 131 deaths related to SSc during a mean follow-up of 5.2 years, 13 deaths were due to GI complications .
Systemic sclerosis (SSc) is associated with alterations of the microvasculature, the autonomic nervous system, and the immune system, leading to fibrosis [11-13]. Sjögren advanced the theory that SSc affects the gastrointestinal (GI) tract by an orderly series of steps that result in progressive dysfunction . According to this hypothesis, the disease begins with an initial neural disorder, progresses to muscle dysfunction, and ends with fibrosis. Early neural dysfunction may be a consequence of collagen deposits causing vascular derangement, compression of the nerves, or autoimmune-mediated injury [15-21]. The second stage of small bowel disease occurs with smooth muscle atrophy. Most patients present with symptoms at this stage. This is followed by the final stage of muscle fibrosis. At this point, the muscle is incapable of responding to stimuli and pharmacologic restoration of function is no longer possible. (See "Pathogenesis of systemic sclerosis (scleroderma)", section on 'Summary'.)
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- Gastrointestinal histopathology
- OROPHARYNGEAL INVOLVEMENT
- Oropharyngeal dysphagia
- ESOPHAGEAL INVOLVEMENT
- Esophageal motility disorder and gastroesophageal reflux
- GASTRIC INVOLVEMENT
- Gastric antral vascular ectasia
- SMALL INTESTINAL INVOLVEMENT
- Small intestinal bacterial overgrowth
- Hypomotility and intestinal pseudo-obstruction
- COLON AND ANORECTAL INVOLVEMENT
- Colonic inertia
- Diarrhea and fecal incontinence
- LIVER AND BILIARY TREE INVOLVEMENT
- Primary biliary cholangitis overlap
- PANCREATIC INVOLVEMENT
- Pancreatic exocrine insufficiency
- SUMMARY AND RECOMMENDATIONS