Objective. To refine the previously developed scleroderma (systemic sclerosis [SSc]) gastrointestinal tract (GIT) instrument (SSC-GIT 1.0).Methods. We administered the SSC-GIT 1.0 and the Short Form 36 to 152 patients with SSc; 1 item was added to the SSC-GIT 1.0 to assess rectal incontinence. In addition, subjects completed a rating of the severity of their GIT involvement (from very mild to very severe). Evaluation of psychometric properties included internal consistency reliability, testretest reliability (mean time interval 1.1 weeks), and multitrait scaling analysis. Results. Study participants were mostly women (84%) and white (81%); 55% had diffuse SSc. Self-rated severity of GIT involvement ranged from no symptoms to very mild (39%), mild (21%), moderate (31%), and severe/very severe (9%). Of an initial 53 items in the SSC-GIT 1.0, 19 items were excluded, leaving a 34-item revised instrument (the University of California, Los Angeles Scleroderma Clinical Trial Consortium GIT 2.0 [UCLA SCTC GIT 2.0]). Analyses supported 7 multi-item scales: reflux, distention/bloating, diarrhea, fecal soilage, constipation, emotional well-being, and social functioning. Test-retest reliability estimates were >0.68 and coefficient alphas were >0.67. Participants who rated their GIT disease as mild had lower scores on a 0 -3 scale on all 7 scales. Symptom scales were also able to discriminate subjects with corresponding clinical GIT diagnoses. The Total GIT Score, developed by averaging 6 of 7 scales (excluding constipation), was reliable and provided greater discrimination between mild, moderate, and severe self-rated GIT involvement than individual scales. Conclusion. This study provides support for the reliability and validity of the UCLA SCTC GIT 2.0, an improvement over the SSC-GIT 1.0, and supports a Total GIT Score in SSc patients with GIT.

Objective To compare colonic microbial composition of systemic sclerosis (SSc) patients and healthy controls and to determine whether certain microbial genera are associated with SSc-gastrointestinal (GIT) symptoms. Methods Healthy controls were age- and gender-matched to adult SSc patients (1:1). Cecum and sigmoid mucosal lavage samples were obtained during colonoscopy. The microbiota from these samples were determined by Illumina HiSeq 2000 16S sequencing, and operational taxonomic units were selected using the Greengenes database at 97% identity. Linear discriminant analysis effect size was used to identify the genera that showed differential expression in SSc versus controls. Differential expression analysis for sequence count data was used to identify specific genera associated with GIT symptoms. Results Among 17 patients with SSc (88% Female; Median age 52.1 years), the mean (SD) total GIT 2.0 score was 0.7 (0.6). Principal coordinate analysis illustrated significant microbial community differences in SSc versus healthy controls in the cecum (p=0.001) and sigmoid (p=0.001) regions. Similar to inflammatory disease states, SSc patients had decreased commensal bacteria, such as Faecalibacterium and Clostridium, and increased pathobiont bacteria, such as Fusobacterium and γ-Proteobacteria, compared with healthy controls. However, SSc patients had increased Bifidobacterium and Lactobacillus, which are typically reduced in inflammation. SSc patients with moderate/severe GIT symptoms had decreased Bacteroides fragilis and increased Fusobacterium compared with SSc patients with none/mild symptoms. Conclusions This study demonstrates a distinct colonic microbial signature in SSc patients compared with healthy controls. This unique ecological change may perpetuate immunological aberrations and contribute to clinical manifestations of SSc.

Gastrointestinal tract (GIT) commonly affects patients with systemic sclerosis (SSc). The GI involvement is quite heterogeneous varying from asymptomatic disease to significant dysmotility causing complications like malabsorption, weight loss and severe malnutrition. This review focuses on the management of GI involvement in SSc and has been categorized based on the segment of GIT involved. A brief discussion on the role of patient reported outcome measures in SSc-GI involvement has also been incorporated.

Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine. Genet Med 2011:13(3):263-269.

Purpose To provide minimally important difference (MID) estimates for the UCLA Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 (UCLA SCTC GIT 2.0) in a longitudinal observational cohort. Methods We administered the UCLA SCTC GIT 2.0 to 115 patients with SSc at 2 time points 6 months apart. UCLA SCTC GIT 2.0 has 7 multi-item scales: Reflux, Distention/Bloating, Diarrhea, Fecal Soilage, Constipation, Emotional Well-being, and Social Functioning and a Total GIT score. All scales are scored from 0 (better HRQOL) to 3 (worse HRQOL) except the diarrhea and constipation scales (ranges are 0–2 and 0– 2.5, respectively). Patients also rated their overall, upper, and lower GIT involvement during the 2nd visit using a “Much better, somewhat better, almost the same, somewhat worse, or much worse” response scale. The minimally changed group was defined by those reporting they were somewhat better or somewhat worse compared to 1st visit. Results Study participants were 84% female and 81% white with a mean disease duration of 6.9 years. The MID estimates for improvement ranged from 0.07 for the Social Functioning scale to 0.36 for Emotional Well-Being scale. For worsening, the MID estimates ranged from 0.06 for Fecal Soilage scale to 0.21 for the Social Functioning Scale. Conclusion We provide MID estimates for the UCLA SCTC GIT 2.0 scales. This information can aid in interpreting scale scores in future RCTs and observational studies.