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Systemic sclerosis (SSc) is a clinically heterogeneous disorder which affects the skin and internal organs such as the gastrointestinal tract, lungs, heart, and kidneys. Small bowel disease can present with a wide variety of symptoms, including intermittent bloating, abdominal cramps, chronic diarrhoea and, in a minority of patients, malabsorption.1 Coeliac disease (CD) is a malabsorptive disorder resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten. As CD has an immunological basis, an association between CD and other autoimmune disorders, such as type 1 diabetes mellitus and autoimmune thyroiditis, is not uncommon.2,3 We describe here a patient with SSc and insulin dependent diabetes mellitus in whom a diagnosis of CD was made at the age of 49.
A 49 year old white woman with insulin dependent diabetes mellitus diagnosed in 1980, with weak positive anti-islet cell antibodies, recently attended our clinic. In 1995, she complained of Raynaud’s phenomenon, ischaemic digital ulcers, sclerodactyly, and telangiectasia. A diagnosis of SSc with limited scleroderma was made supported by the presence of antinuclear (1/160) and anticentromere antibodies. Lichen planus was diagnosed owing to hypochromic macular lesions on her thorax and arms. Associated sicca syndrome with anti SS-A/Ro antibodies was also diagnosed. Treatment with intravenous prostaglandins, calcium antagonists, and angiotensin converting enzyme inhibitors was started with good response.
Five years later, she presented with gastrointestinal symptoms, including dysphagia and oesophageal reflux, with barium studies that confirmed oesophageal hypomobility. She also presented with diarrhoea, with normal thyroid function, and with no evidence of infection. Symptomatic management was started, with transient improvement.
Three months later, she was admitted with a necrotic ischaemic digital episode of the second finger of her right hand complicated with osteomyelitis, and this was accompanied by an exacerbation of her abdominal symptoms. Laboratory findings showed malabsorption markers and positive IgA and IgG antigliadin and anti-endomysial antibodies. Jejune biopsy showed severe intestinal atrophy with a moderate lymphoplasmacytic infiltrate in the lamina propria and an increase of the intraepithelial lymphocytes (fig 1). A gluten-free diet was started, and her diarrhoea slowly improved.
A few publications have reported the coexistence of CD and SSc.3–7 Zammit-Maempel et al reported on a 63 year old man with CD confirmed by jejunal biopsy associated with sclerodactyly, but without other clinical or serological features related to SSc.4 We found six well documented cases of patients with CD and SSc, including the current one (table 1). The mean age was 37.7 years (range 21–54), with a mean duration of the SSc of 5.8 years (in one patient both diseases presented at the same time). Most of the patients were female (four women, two men) with limited scleroderma in five (83%) of the six cases. Three of the patients had sicca symptoms, in one of them with a salivary gland biopsy that confirmed a diagnosis of Sjögren’s syndrome.
The presence of Sjögren’s syndrome or sicca symptoms in three of the six patients with CD and SSc deserves special comment. Iltanen et al found that five (15%) of 34 patients with Sjögren’s syndrome studied by an intestinal biopsy had concomitant CD.8 Additionally, they suggested that a close association between these two disorders can be partly explained by a similar genetic involvement, specially the HLA DR3-DQ2 haplotype.
Our patient and the previous cases collected emphasise the importance of studying patients with SSc with chronic diarrhoea and malabsorption not only by antigliadin and anti-endomysial antibody determination but also, in some cases, by an intestinal biopsy, in order to clarify the source of the malabsorption, to obtain relief of symptoms, and to improve the prognosis of patients with SSc.
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