Rheumatoid Arthritis: Talarico R

Mosca M, Carli L, d'Ascanio A, Tani C, Talarico R, Baldini C, Bazzichi L, Tavoni A, Migliorini P, Bombardieri S. · Department of Internal Medicine, University of Pisa, Via Roma 67, 56126, Pisa, Italy. · Clin Rheumatol. · Pubmed #18509714 No free full text.

Abstract: Studies have demonstrated a familial aggregation of systemic and organ-specific autoimmune diseases. The aim of the present survey was to obtain, by patient interviews, a preliminary estimate of the prevalence of systemic and organ-specific autoimmune diseases among the first- and second-degree relatives of Caucasian patients with connective tissue diseases (CTD) or inflammatory arthritis followed at our unit. Between June 2007 and January 2008, 626 patients and 85 controls (patients with osteoarthritis, osteoporosis, or fibromyalgia) were interviewed. Three hundred ten patients (50%) versus 21 controls (25%) were found to have at least one relative affected with an autoimmune condition (p < 0.0001). The most common conditions were organ-specific autoimmune diseases: 160 (34%) autoimmune thyroid (AT) disease, 112 (24%) psoriasis, 21 vitiligo, and 19 insulin-dependent diabetes mellitus. Systemic autoimmune diseases were reported in 126 relatives: rheumatoid arthritis (66 cases, 14%), 16 sacroileitis, and CTD (43 cases). A significant difference was observed in the prevalence of AT disease between the relatives of the patients and controls (3% versus 0.5%). In conclusion, these data confirm the high prevalence of autoimmune conditions, particularly of AT disease, among the relatives of patients.

Mosca M, Tani C, Neri C, Craig F, Della Rossa A, Baldini C, Talarico R, Carli L, Bombardieri S. · U.O. di Reumatologia, Dipartimento di Medicina Interna, Università degli Studi di Pisa, Italia. · Reumatismo. · Pubmed #18432323 links to  free full text

Abstract: The term undifferentiated connective tissue diseases (UCTD) is used to identify systemic autoimmune diseases not fulfilling classificative criteria for defined connective tissue diseases (CTD). Aim of the present study was to evaluate the evolution to defined CTD of an historical cohort of 91 UCTD patients followed at our Unit and to describe clinical and serological characteristics of stable UCTD patients with a disease duration of more than 5 years. Patients, previously described, were selected for having an undifferentiated profile after 1 year of follow up. These patients have been regularly followed at our Unit and their diagnosis has been reassessed annually based on the existing classificative criteria. Seven UCTD patients with a follow up of less than 5 years have been excluded from the study, therefore 84 patients (F: 81, M: 3) have been analysed. During the follow up 28 patients (33%) developed a defined CTD. In particular 22 patients developed systemic lupus erythematosus (SLE), while the remaining 6 patients developed other CTDs (2 primary Sjögren's syndrome, 2 overlap syndromes, 1 Systemic Sclerosis, 1 rheumatoid arthritis). The evolution to a defined CTD occurred after a mean disease duration of 80.6+/- 66.8 months (min 14, max 336, median 72); the evolution to SLE occurred after a mean disease duration of 66.8+/-43.3 months (min 17, max 216, median 57). Anti-cardiolipin antibodies were the only variable correlated with the evolution to SLE (p<0.05). Stable UCTD were characterized by a simplified clinical picture with no major organ involvement and by a simplified autoantibody profile (anti-Ro/SSA antibodies and anti-RNP antibodies were the single antibody specificities observed in 22% and 13% of patients respectively). These results confirm previous data showing that about 30% of UCTD patients will develop a defined CTD, the predictive role of anti-cardiolipin antibodies for the evolution to SLE, and the existence of stable UCTD, distinct clinical entities with a simplified clinico-serological profile. The early identification of stable UCTD is very important both from a clinical and a research point of view. Future research is needed to define a new set of classification criteria.