Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy: A Pilot Study.

INTRODUCTION: Jaccoud arthropathy (JA) is a nonerosive and deforming arthropathy experienced frequently by patients with systemic lupus erythematosus (SLE). Although genetic polymorphisms are associated with SLE development, the association between genetic polymorphisms and JA has not been studied to date. The main objective of this study was to evaluate an association between HLA, STAT4, IRF5, and BLK polymorphisms and the presence of JA in Brazilian individuals with SLE. METHODS: Patients were selected from a cohort of individuals with SLE followed at 2 rheumatology reference centers in Salvador, Bahia, Brazil. The JA diagnosis was based on clinical and radiological criteria. The participants were genotyped for rs9271100, rs7574865, rs10488631, and rs13277113 polymorphisms in the HLA, STAT4, IRF5, and BLK genes, respectively, using real-time polymerase chain reaction. The presence of JA was correlated with allele frequencies, and clinical and laboratory data. RESULTS: One hundred forty-four individuals with SLE (38 with JA and 106 with SLE without JA) were studied. The mean age of the patients was 45 ± 12 years; the majority were women and had brown skin. Patients with JA had a longer disease duration than patients without JA. Serositis and neuropsychiatric manifestations were more frequent in the JA population. The A allele of rs13277113 in the BLK gene was associated with the presence of JA. CONCLUSIONS: The rs13277113 polymorphism in the BLK gene was found to be a possible genetic risk for JA development. However, further studies in larger populations should be performed to confirm this finding.

Sonographic Findings of Hands and Wrists in Systemic Lupus Erythematosus Patients With Jaccoud Arthropathy.

INTRODUCTION: Jaccoud arthropathy (JA) is a deforming nonerosive arthropathy, characterized by the presence of "reversible" joint deformity. The study aims at describing the main musculoskeletal ultrasound (US) findings of a series of systemic lupus erythematosus (SLE) patients with JA. METHODS: Consecutive patients diagnosed as having JA and SLE were included in the study. All patients underwent a whole clinical evaluation and US of the hands and wrists. The US scan evaluated the presence of synovial hypertrophy, tenosynovitis, and bone erosions. RESULTS: Thirty-nine of 40 patients were female. The US examination was performed on 560 joints of the hands and wrists. At least 1 change was observed in the US examination of 20 patients (50.0%), but there was not a statistically significant association with disease activity (P = 0.33). Nineteen patients (47.5%) had synovial hypertrophy, 9 (22.5%) had tenosynovitis, and 7 (17.5%) had both. Isolated small bone erosions were identified in 2 patients (5.0%). CONCLUSIONS: Ultrasound examination is a reliable and noninvasive imaging method for the evaluation of joint involvement in SLE. Half of the patients with JA have ultrasonographic signs of joint inflammation, and these abnormalities may be found even in the absence of disease activity.

IgG4-Related Disease: A Multispecialty Condition.

IgG4-related disease (IgG4-RD) is a recently recognized group of conditions, characterized by tumor-like swelling of involved organs, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, variable degrees of fibrosis, and elevated serum IgG4 concentrations. Currently IgG4-RD is recognized as a systemic condition that can affect several organs and tissues. Herein we report the case of a 34-year-old male patient who was admitted to our hospital with diffuse abdominal pain, weight loss, and painful stiffness in his neck. He had a history of tumoral mass of the left maxillary region, right palpebral ptosis with protrusion of the eyeball, and chronic dry cough for about 6 years. Laboratory tests revealed polyclonal hypergammaglobulinemia and increased serum IgG4 levels. Immunohistochemical staining of the maxillary biopsy was compatible with IgG4-RD. He had an excellent response to corticosteroid therapy. This case highlights that IgG4-RD should be included in the differential diagnosis with multisystem diseases.