Clinical phenotypes of IGG4-related disease in Spain

Background: Recently, several clinical phenotypes in IgG4-related disease have been described in a multinational and ethnically variate cohort1. Objectives: To assess the clinical presentation of IgG4-related disease (IgG4-RD) in Spanish patients and assess the distribution among different clinical phenotypes. Methods: Clinical data were obtained from the Spanish IgG4-RD registry (REERIGG4) from October 2013 to December 2018, including 9 centers. We reviewed demographic data and organ involvement. The assignation of clinical phenotypes was done by 2 experts, based on organ involvement and clinical manifestations, following Wallace et al.1 subsets. The phenotypes were: pancreato-hepato-biliary (HBP), retroperitoneum and aorta (RA), head and neck limited (HNL) and Mikulicz and systemic (MS). A fifth group designated not defined (ND), included the patients that did not fit in the previous phenotypes. Results: One-hundred patients were included. Thirty-four (34%) were females, median age at diagnosis was 54.8 years (IQR 20.7). The ethnicity of the participants was: Caucasian 83%, Hispanic 12% and North-African/Middle-East 5%. Ninety-two percent were diagnosed with a biopsy. Regarding the diagnostic criteria, 85% met consensus pathology criteria and 94% comprehensive criteria. Fifty-one patients (51%) had systemic IgG4-RD involving >1 tissue. The most commonly involved tissues were: retroperitoneum (35%), lymph nodes (19%), orbit pseudotumor (18%), salivary glands (16%) and pancreas (14%). Forty-two patients (42%) had elevated serum IgG4. The representation of each clinical phenotype was: HBP 14%, RA 25%, HNL 26%, MS 20%, ND 15%. Patients were equally distributed from the perspective of ethnicity. Men were predominant in all groups (71, 84, 70, 73%) except in HNL (61% for women). Systemic disease was present in all the MS patients, but in 1/3 of the other groups. Serum IgG4 was elevated in 86% of the cases in HBP, 28% in RA, 19% in HNL, 60% in MS and 40% in ND. Conclusion: The Spanish IgG4-RD population was mainly ethnically Caucasian. Few patients had serum IgG4 elevation. The most frequent phenotype was HNL, followed by RA. The HBP phenotype was less frequent than in previous reports. The influence of race could modify the clinical expression of IgG4-RD. Knowing the regional phenotypes of IgG4-RD may help clinicians improve disease management

Capillaroscopic differences in primary biliary cholangitis with or without scleroderma and raynaud's phenomenon, a preliminary study

Background A high proportion of capillaroscopic alterations have been reported in patients with Primary Biliary Cholangitis (PBC) (1). Association with an abnormal capillaroscopic pattern has been described in patients with PBC and Raynaud’s phenomenon (RP), possibility for anticentromere antibodies (ACA) and overlap with another systemic autoimmune disease, the most frequent being Systemic Sclerosis (SSc) (association with a prevalence up to 17% of PBC patients called Reynolds Syndrome) (2). However, studies are scarce and not very detailed in terms of the differential capillaroscopic findings between patients with PBC with/without SSc and with/without RP. Objectives To analyze the differences between clinical, serologycal and capillary morphological alterations observed in three different groups of patients with PBC: patients with PBC alone (PBC-A), patients with PBC and RP (PBC-RP) and patients with Reynolds Syndrome (PBC-RS). Methods Periungual capillaroscopy was performed on 12 patients with PBC-A, 10 with CBP-RP and 13 with PBC-RS, who received follow-up in our systemic diseases and hepatology monographic outpatients. Capillaroscopy was made with USB Digital Microscope Dino-Lite ® epiluminiscence video. The capillaroscopic alterations were according to a semiquantitative method. All patients were given a detailed clinical evaluation. Variables related to clinical, serological and capillaroscopic parameters were collected. A comparative study was done. Results Of the 36 patients analyzed, 32 (88.9%) were women, with no sex differences between the three groups. The median age at PBC diagnosis was 50 + -12.8 years in PBC-A group, 60.5 + -15 years in PBC-RP and 62 years in PBC-RS, showing significant difference between the first group and the other two (p 0.039). 14 patients had other systemic diseases: 1 hemolytic anemia, 1 SLE, 2 Psoriasis, 1 PTI and 9 Sicca. The only clinical parameter with significant difference between the three groups was association with Sicca: 3 (25%) PBC-A, 5 (50%) PBC-RP and 12 (85.7%) PBC-RS, p 0.002. Twenty five (73.5%) patients had positive AMA, with no differences between groups. All 11 patients who had ACA were from the PBC-RS group. Statistically significant differences observed between the capillaroscopy parameters were the presence of capillary dilatations [5 (41.7%) PBC-A, 5 (50%) PBC-RP, 11 (84.6%) PBC-RS, p 0.03] and pathological hemorrhages [1 (8.3%) in PBC-A, 2 (22.2%) PBC-RP, 11 (78.6%) PBC-RS, p <0.001] as well as the presence of a different capillaroscopic pattern (p <0.001): normal or nonspecific in 9 (75%) of PBC-A, 4 (44.4%) PBC-RP and 2 (15.4%) PBC-RS; connective tissue disease suggestive pattern in 3 (25%) of PBC-A, 5 (55.6%) of PBC-RP and 1 (7.7%) of PBC-RS; sclerodermiform pattern in 10 (76.9%) PBC-RS, and none of the other two groups. We did not find significant differences in the presence of simple tortuosities, complex tortuosities, branched capillaries or capillary loss. No capillaroscopic parameters correlated with other systemic diseases. Conclusion This preliminary study shows an evolutionary trend in some clinical (age at PBC diagnosis, sicca asocciation) and capillaroscopic parameters (capillary dilatation, hemorrhages, general capillaroscopic pattern) in patients with PBC-A, PBC-RP and PBC-RS, which may suggest three different phenotypic expressions of the same pathogenic process