Scleroderma is a rare, chronic rheumatic disease, combined forms of which, including localized, systemic, and related conditions, affecting an estimated 300,000 Americans, primarily females who are 30 to 50 years old at onset. The overall occurrence of Scleroderma is 1 per 1,000 (.1% of the 310 million U.S. population) and the ratio of women to men is about four to one.
According to the International Scleroderma Network (ISN), there are about 75,000 current cases in the United States of the most serious the subtype of systemic sclerosis, with about 20 to 24 new cases per million population diagnosed each year in the U.S. Worldwide, it is estimated that there may be as many as 2.5 million persons with scleroderma.
Scleroderma actually refers to a constellation of progressive autoimmune diseases in which the skin and connective tissues tighten and harden; it occurs when the body produces and accumulates too much collagen in tissues. Causes and triggers are unknown. Systemic scleroderma (AKA Systemic Sclerosis) may involve all connective tissue containing organs; however, some represent the main target of the disease, including the skin, gastrointestinal tract, heart, lungs, and kidneys.
The ISN says proper diagnosis of scleroderma is often long and difficult process. In the early stages (which sometimes drags on for months or years), scleroderma may resemble many other connective tissue diseases, such as Systemic Lupus Erythematosus, Polymyositis, and Rheumatoid Arthritis, or others. Many initial symptoms are vague (fatigue, achiness, cold hands, slight trouble swallowing), which often causes doctors (most of whom have little first-hand clinical experience with Scleroderma due to its rarity), and sometimes even the patients, to wrongly assume that the symptoms are psychosomatic.
According to the ISN, often the diagnostic uncertainty and frustration takes a huge psychological toll on these patients, who describe their journey to diagnosis as being by far the most difficult part of their illness.
Among the symptoms Systemic sclerosis (SSc) (scleroderma) can cause are constipation, diarrhea, collagenous colitis, irritable bowel syndrome (IBS), malabsorption, diminished peristalsis, and bowel incontinence. It can also overlap with Crohn’s disease and ulcerative colitis. Typical in the initial stages of scleroderma is chronic constipation, sometimes alternating with diarrhea. Late stage scleroderma bowel involvement is often marked by diarrhea, malabsorption, and bowel incontinence.
The ISN reports that many Scleroderma patients suffer from small bowel bacterial overgrowth. More than a third of patients with systemic sclerosis and intestinal symptoms have an increase in gastrointestinal tract bacteria, an alteration in the type of gut microbes present, or both? Thus taking probiotics supplements or even eating 1 to 2 tablespoons a day of live culture acidophilus yogurt may be helpful for combatting bowel involvement with systemic scleroderma, especially small bowel bacterial overgrowth. It may also be particularly helpful when taking antibiotics, and yogurt has the additional benefit of being nutritious and easy to swallow. However, only a very few brands/types of yogurt (especially in the U.S.) have live cultures, so it’s imperative to scrutinize product labels carefully.
Collagenous colitis (CC) is an inflammatory condition of the large bowel also of unknown etiology, and mainly affecting middle-aged and elderly women, is characterized clinically, by chronic watery and nonbloody diarrhea, abdominal pain, and mild weight loss.
A new UK report published in the Journal of Clinical Rheumatology, notes that Collagenous colitis (CC), an inflammatory bowel condition of unknown etiology, has been associated Systemic sclerosis in a few cases, but it remains unclear as to whether CC could be considered an unusual manifestation of SSc or an independent condition.
THe paper, entitled “Collagenous Colitis in Systemic Sclerosis: An Overlooked and Treatable Complication” (Journal of Clinical Rheumatology: August 2014 – Volume 20 – Issue 5 – p 278–282 doi: 10.1097/RHU.0000000000000121) is coauthored by http://medhealth.leeds.ac.uk/profile/700/666/giuseppina_abignano Giuseppina Abignano, MD, PhD – (Corresponding author), Maya H. Buch, PhD, MBChB, FRCP, Paul Emery, MD, MA, FRCP; Francesco Del Galdo, MD, PhD of the Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, and the NIHR Leeds Musculoskeletal Biomedical Research Unit, Leeds, UK; Nigel Scott, MD of the Department of Histopathology, St James’s University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds UK; and Frank A. Wollheim, MD, PhD, FRCP of the Department of Rheumatology, University of Lund, Lund, Sweden as well as being affiliated with the U. Of Leeds institutions, presents a case of SSc-associated CC and compares routine histology and immunofluorescence studies for allograft inflammatory factor 1 and caveolin 1 expression with other cases of CC and healthy controls.
The coauthors report that CC biopsies showed characteristic sublaminal collagen accumulation and a decrease of caveolin 1 expression, this latter finding consistent with and common in any fibrotic reaction. In contrast, the expression of allograft inflammatory factor 1 was increased only in the SSc-CC specimen, suggesting a distinct pathogenesis.
The researchers say a literature review revealed six previously reported cases of SSc-CC with common clinical features, and deduce that these observations suggest CC should be suspected as a rare gastrointestinal complication of SSc and that clinicians should be aware of the possibility, especially in SSc patients developing watery diarrhea.
They focus in particular on the case of 68-year-old woman diagnosed in 2007 with limited cutaneous SSc (lcSSc) on the basis of a two-year history of Raynaud’s phenomenon, reflux, sclerodactyly, digital tip ulcers, facial telangiectasias, and high titer antinuclear antibodies (ANA) positivity with centromere pattern. This patient had reported a progressive 8-kg weight loss over the previous two years, resulting in a weight of 41.5 kg. Past history revealed chronic constipation and abdominal bloating interpreted as irritable bowel syndrome. Barium enema had previously shown scattered diverticula throughout the colon, mainly affecting the sigmoid colon.
Study lead author Giuseppina Abignano, MD, PhD (Immunology) conducts research at the Scleroderma Research Programme at the Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, UK. During the training in Rheumatology and the Doctorate of Research, Dr. Abignano’s clinical and research activities have been focused on Connective Tissue Diseases with a major interest in Systemic Sclerosis. Her doctoral thesis focused on Biomarkers in Systemic Sclerosis, and her research has recently led to identification of a novel imaging biomarker, the Optical Coherence Tomography, to assess skin involvement in Systemic Sclerosis. Additionally Dr. Abignano studied the putative application of a composite serum test of liver fibrosis in a Scleroderma cohort. She has been author/co-author of studies published on international peer-reviewed journals and of several abstracts, presented as oral communications or posters, at the most important congresses of Rheumatology. For some of them she received national and international awards.
The researchers were particularly interested in a reported association of CC with the use of proton-pump inhibitors (PPI) — drugs commonly prescribed to control production of stomach acid in treating GERD and other gastric illnesses and conditions.
The researchers suggest that a suspicion and accurate diagnosis of SSc-CC may have a positive influence on GI function and quality of life of SSc patients, although they caution that causality cannot be established on the basis of case reports, and that indeed, CC has been rarely reported in association with SSc compared with other systemic rheumatic diseases, and it might not be related to the pathogenesis of SSc. THey conclude that more research needs to be undertaken on this topic before the association between SSc and CC is more clearly understood.
In the meantime, they report that confirming results of previous randomized controlled trials showing efficacy of oral budesonide, a glucocorticoid steroid that reduces inflammation in the body, and that has been used to treat mild to moderate Crohn’s disease, induced a prompt clinical remission in the subject patient. And while many published patients reported relapsing after cessation of budesonide, in this instance the clinical symptoms settled within one week after starting the corticosteroid treatment, and no relapse has been shown during the subsequent three years. Moreover, that onserve that given increasing evidence in the literature of case series and case-control studies suggesting a link between PPI therapy and CC, they can’t exclude that drug withdrawal in some cases might be the only treatment needed.
They conclude that for now, pending further research the possible, although rare, occurrence of CC in patients with SSc should be kept in mind, not least because GI disturbances are highly prevalent in SSc and this is one complication, which can be amenable to efficient therapy.
International Scleroderma Network SCLERO.ORG
Journal of Clinical Rheumatology
Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds
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