Diagnosis of catastrophic anti-phospholipid syndrome in a patient tested negative for conventional tests.

Catastrophic antiphospholipid syndrome (CAPS) is a severe variant of APS, characterised by clinical evidence of multiple organ involvement developing over a very short period of time, histopathological evidence of multiple small vessel occlusions and laboratory confirmation of the presence of aPL (lupus anticoagulant and/or anticardiolipin antibodies and/or anti-Beta2-glcyoprotein I antibodies). Here we report a case of a 39-year-old woman patient who developed a CAPS which was negative to the conventional aPL but positive for aPL in thin layer chromatography immunostaining and vimentin/cardiolipin antibodies by ELISA test. The patient was treated with high doses of glucocorticoids, intravenous immunoglobulins plasma exchange and immunoadsorbent apheresis with a significant improvement of the ischaemic lesions of the hands even though the necrosis of the feet progressively worsened. As a result, the patient underwent partial surgical amputation of the feet. To our knowledge, this is the first ever reported case of CAPS diagnosed by means of thin layer chromatography immunostaining and vimentin/cardiolipin antibody ELISA test.

Hypovitaminosis D in recent onset rheumatoid arthritis is predictive of reduced response to treatment and increased disease activity: a 12 month follow-up study.

BACKGROUND: Vitamin D displays immunomodulatory activities and has been proposed as a potential player in the pathogenesis of rheumatoid arthritis (RA). A negative association between serum 25(OH) vitamin D levels and RA activity was demonstrated but longitudinal studies investigating the role of vitamin D levels in predicting RA activity and response to treatment are lacking. Therefore, this study was designed to test the hypothesis of an association between serum 25(OH) vitamin D levels at RA diagnosis and disease activity evaluated by clinimetric, laboratory and ultrasound (US) parameters and to detect the prevalence of remission and response to treatment after 12 months follow-up. METHODS: This is a longitudinal, retrospective study on data obtained from thirty-seven patients with early RA treatment-naïve. Serum inflammatory markers, auto-antibodies and 25(OH) vitamin D levels were obtained at baseline. Hypovitaminosis D was diagnosed for 25(OH) vitamin D levels < 20 ng/ml. Tender joint count (TJCs), swollen joint count (SJCs), Visual Analog Scales (VAS), Disease Activity Score (DAS) 28 score were assessed at baseline and 12 months after diagnosis. Joints synovitis and power-Doppler were evaluated at baseline and 12 months later. RESULTS: At baseline mean 25(OH) vitamin D levels were 24.4 ± 11.9 ng/ml; 35% of study subjects had hypovitaminosis D which strongly associated with higher RA activity and lower prevalence of remission and response to treatment (all p-values < 0.001). The percentage of patients not presenting a reduction of the US synovitis score after 12 months from diagnosis was significantly higher among patients with hypovitaminosis D than in those with normal serum 25(OH) vitamin D at baseline. CONCLUSIONS: In patients with early RA and basal hypovitaminosis D after 12 months follow-up reduction of disease activity and percentage of remission and response to treatment were significantly lower than those observed in patients with normal vitamin D levels. These results provide further support to the immunomodulatory action of vitamin D in RA and suggest a role of basal vitamin D status in the prediction of disease evolution. Vitamin D measurement and possibly vitamin D supplementation should be considered an additional option in the management of early RA patients.

Cartilage as a target of autoimmunity: a thin layer.

The articular cartilage is an important component of human organism that has elasticity, low-friction surface, and ability to withstand great physical forces. The structure consists of collagens and proteoglycans, whereas non-collagenous proteins are needed for the organization and modulation of the molecular networks. The structural elements of the cartilage are typical to that tissue and could, in part, account for the localization of the inflammatory response to the joint. For this reason cartilage is of particular interest in autoimmunity as it may represent a source of antigens. It is well known that sensitization with collagens can produce autoimmune rheumatic diseases in experimental models. So far, the cartilage proteins that have been clearly characterized to be arthritogenic in experimental models involve types II and XI collagen, cartilage oligomeric matrix protein, and aggrecan. It is likely that these proteins are also recognized at different stages in the development of rheumatoid arthritis and in other autoimmune diseases. The mechanisms determining the trigger of a cartilage-specific immune response, its development and outcome are poorly understood. Most likely, the distribution and concentration of a specific cartilage protein may play a role by eliciting an autoimmune response. Indeed, the inflammatory processes lead to tissue damage mediated by the intervention of several factors such as autoantibodies, cytokines as well as cells of the innate an adaptive immunity. For this reason, even previously-considered degenerative diseases, such as osteoarthritis, should now be re-evaluated as at least partly inflammatory-driven. Thus, the objective of this review is to describe the clinical conditions sustained by the immune-mediated reactions to cartilage, which represents the target organ in a number of autoimmune diseases.

Outcome of pregnancy in Italian patients with primary Sjögren syndrome.

OBJECTIVE: To investigate pregnancy and fetal outcomes in patients with primary Sjögren syndrome (pSS). METHODS: An obstetric history of 36 women with established diagnosis of pSS at pregnancy was obtained from a multicenter cohort of 1075 patients. In a subgroup case-control analysis, 12 deliveries in patients with pSS were compared with 96 control deliveries. RESULTS: Thirty-six women (31 with anti-SSA/Ro and/or anti-SSB/La antibodies) with an established diagnosis of pSS had 45 pregnancies with the delivery of 40 newborns. Two miscarriages, 2 fetal deaths, and 1 induced abortion were recorded. Mean age at the first pregnancy was 33.9 years; mean number of pregnancies was 1.25; 18/40 (45%) cesarean births were delivered; mean pregnancy length was 38.5 weeks (range 32-43), with 6 preterm deliveries. The mean Apgar score at 5 min was 8.9, mean birthweight was 2920 g (range 826-4060 g). Congenital heart block (CHB) occurred in 2/40 (5%) newborns. The reported rate of breastfeeding for at least 1 month was 60.5%. In 4/40 pregnancies (10%) a flare of disease activity was observed within a year from delivery. In the case-control subgroup analysis, 12 deliveries were compared with 96 controls and no significant differences were found. CONCLUSION: Patients with pSS can have successful pregnancies, which might be followed by a mild relapse. CHB was the only cause of death for offspring of mothers with pSS.