Predictors of severe hemolytic anemia and its impact on major outcomes in systemic lupus erythematosus: Data from a multiethnic Latin American cohort.

OBJECTIVE: To determine the predictors of the occurrence of severe autoimmune hemolytic anemia (AIHA) and its impact on damage accrual and mortality in SLE patients. METHODS: Factors associated with time to severe AIHA (hemoglobin level ≤7 g/dL) occurring from the onset of SLE symptoms were examined by Cox proportional hazards regressions. The association of severe AIHA with mortality was examined by logistic regression analyses while its impact on damage was by negative binomial regression. RESULTS: Of 1,349 patients, 49 (3.6%) developed severe AIHA over a mean (SD) follow-up time of 5.4 (3.8) years. The median time from the first clinical manifestation to severe AIHA was 111 days (IQR 43-450). By multivariable analysis, male sex (HR 2.26, 95% CI 1.02-4.75, p = 0.044), and higher disease activity at diagnosis (HR 1.04, 95% CI 1.01-1.08, p = 0.025) were associated with a shorter time to severe AIHA occurrence. Of the SLEDAI descriptors, only hematologic (leukopenia and/or thrombocytopenia) showed a certain trend toward significance in the multivariable analysis (HR 2.36, 95% CI 0.91-6.13, p = 0.0772). Severe AIHA contributed neither to damage nor to mortality. CONCLUSIONS: Severe AIHA occurs during the early course of SLE. Male sex and higher disease activity at diagnosis emerged as independent predictors of a shorter time to severe AIHA occurrence. Although not statistically significant, hematological abnormalities at SLE diagnosis could predict the occurrence of severe AIHA in a shorter time. Damage and mortality did not seem to be impacted by the occurrence of severe AIHA.

Myositis-Specific Antibodies and Myositis-Associated Antibodies in Patients With Idiopathic Inflammatory Myopathies From the PANLAR Myositis Study Group.

BACKGROUND: Dermatomyositis (DM) and polymyositis (PM) are forms of idiopathic inflammatory myopathies (IIMs), which are associated with the production of autoantibodies that are useful in the diagnosis and prognosis of the disease. OBJECTIVE: The aim of this study was to determine the frequency of antinuclear autoantibodies (ANAs), myositis-specific autoantibodies (MSAs), and myositis-associated autoantibodies (MAAs) in 6 Latin American countries. METHODS: Two hundred ten patients with IIM were included in this cross-sectional study from 2014 to 2017: 112 from Mexico, 46 from Colombia, 20 from Peru, 16 from the Dominican Republic, 10 from Argentina, and 6 from Guatemala. Antinuclear autoantibodies were detected by indirect immunofluorescence on HEp-2 cells. MSAs and MAAs were tested by a line immunoassay method. Mann-Whitney U and χ2 tests were used for statistical analysis. RESULTS: Of the 210 IIM patients, 139 (66.2%) had DM, 59 (28%) PM, and 12 (5.7%) juvenile DM. The mean age was 43.5 (6-79 years); 158 (75.2%) were female, and 52 (24.8%) were male. The overall frequency of ANA was 60%. The most frequent patterns were fine speckled (AC-4) (78.3%) and cytoplasmic (AC-19) (6.45%). The most frequent MSA were anti-Mi-2 (38.5%) and anti-Jo-1 (11.9%). Anti-Mi-2 was more frequent in patients from Colombia (40.1%). The MAA more frequent were anti-Ro-52/TRIM21 (17.6%) and anti-PM-Scl75 (7.5%). CONCLUSIONS: This is the first study of ANA, MSA, and MAA in patients from 6 countries from the Panamerican League against Rheumatism myositis study group. We observed a general prevalence of 60% of ANA. In relation to MSA and MAA, anti-Mi-2 was the more frequent (38.5%).

Clinical features, damage accrual, and survival in patients with familial systemic lupus erythematosus: data from a multi-ethnic, multinational Latin American lupus cohort.

OBJECTIVES: This study aimed to compare the clinical features, damage accrual, and survival of patients with familial and sporadic systemic lupus erythematosus (SLE). METHODS: A multi-ethnic, multinational Latin American SLE cohort was studied. Familial lupus was defined as patients with a first-degree SLE relative; these relatives were interviewed in person or by telephone. Clinical variables, disease activity, damage, and mortality were compared. Odds ratios (OR) and 95% confidence intervals (CI) were estimated. Hazard ratios (HR) were calculated using Cox proportional hazard adjusted for potential confounders for time to damage and mortality. RESULTS: A total of 66 (5.6%) patients had familial lupus, and 1110 (94.4%) had sporadic lupus. Both groups were predominantly female, of comparable age, and of similar ethnic distribution. Discoid lupus (OR = 1.97; 95% CI 1.08-3.60) and neurologic disorder (OR = 1.65; 95% CI 1.00-2.73) were significantly associated with familial SLE; pericarditis was negatively associated (OR = 0.35; 95% CI 0.14-0.87). The SLE Disease Activity Index and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) were similar in both groups, although the neuropsychiatric (45.4% vs. 33.5%; p = 0.04) and musculoskeletal (6.1% vs. 1.9%; p = 0.02) domains of the SDI were more frequent in familial lupus. They were not retained in the Cox models (by domains). Familial lupus was not significantly associated with damage accrual (HR = 0.69; 95% CI 0.30-1.55) or mortality (HR = 1.23; 95% CI 0.26-4.81). CONCLUSION: Familial SLE is not characterized by a more severe form of disease than sporadic lupus. We also observed that familial SLE has a higher frequency of discoid lupus and neurologic manifestations and a lower frequency of pericarditis.

First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)-Pan-American League of Associations of Rheumatology (PANLAR).

Systemic lupus erythematosus (SLE), a complex and heterogeneous autoimmune disease, represents a significant challenge for both diagnosis and treatment. Patients with SLE in Latin America face special problems that should be considered when therapeutic guidelines are developed. The objective of the study is to develop clinical practice guidelines for Latin American patients with lupus. Two independent teams (rheumatologists with experience in lupus management and methodologists) had an initial meeting in Panama City, Panama, in April 2016. They selected a list of questions for the clinical problems most commonly seen in Latin American patients with SLE. These were addressed with the best available evidence and summarised in a standardised format following the Grading of Recommendations Assessment, Development and Evaluation approach. All preliminary findings were discussed in a second face-to-face meeting in Washington, DC, in November 2016. As a result, nine organ/system sections are presented with the main findings; an 'overarching' treatment approach was added. Special emphasis was made on regional implementation issues. Best pharmacologic options were examined for musculoskeletal, mucocutaneous, kidney, cardiac, pulmonary, neuropsychiatric, haematological manifestations and the antiphospholipid syndrome. The roles of main therapeutic options (ie, glucocorticoids, antimalarials, immunosuppressant agents, therapeutic plasma exchange, belimumab, rituximab, abatacept, low-dose aspirin and anticoagulants) were summarised in each section. In all cases, benefits and harms, certainty of the evidence, values and preferences, feasibility, acceptability and equity issues were considered to produce a recommendation with special focus on ethnic and socioeconomic aspects. Guidelines for Latin American patients with lupus have been developed and could be used in similar settings.

The impact of smoking on disease activity, disability, and radiographic damage in rheumatoid arthritis: is cigarette protective?

The ojective of this study is to assess the effect of tobacco smoking on disease activity, functional ability, and joint damage in a cohort of patients with early onset rheumatoid arthritis (EORA). 129 EORA patients attending the Rheumatology Unit of the School of Medicine of the "Universidad Nacional de Colombia" and the "Clínica de Artritis y Rehabilitación" in Bogota, Colombia, were enrolled in a prospective observational cohort study with 3-year follow-up. Clinical, biological, immunogenetics, and radiographic data were analyzed. Active disease was defined as DAS28 > 2.6. Smoking status was assessed by self-report as "never smokers" and "ever smokers". Patient groups with different smoking status were compared for RA measures. Status as "never smokers" and "ever smokers" was reported by 81.3 and 18.7%. Ever smokers had less risk of disability (HAQ-DI ≥ 0.5) at 36 month (Ever smokers vs. Never smokers OR for HAQ ≥ 0.5 0.25, 95% CI 0.06-0.97, p = 0.04). When former smokers were excluded in analysis, we found that current smoking was also associated with less disability and less risk of active disease. The percentage of erosive disease, radiographic progression, and SvdH score were similar in all smoking categories. In Colombian patients with EORA, smoking was associated with less disease activity and disability. Radiographic joint damage progressed at an equivalent rate in smokers and non-smokers. These data suggest a more benign, or at least not deleterious clinical course in smokers with RA.

The Role of 25-Hydroxyvitamin D as a Predictor of Clinical and Radiological Outcomes in Early Onset Rheumatoid Arthritis.

OBJECTIVE: The aims of this study were to compare the levels of 25-hydroxyvitamin D (25(OH)D) in patients with early-onset rheumatoid arthritis (EORA) versus a healthy control group and to assess the association of 25(OH)D deficiency and the BsmI polymorphism of the vitamin D receptor gene with clinical, radiological, and laboratory parameters. METHODS: Early-onset RA Colombian patients were enrolled in a 3-year follow-up study. Vitamin D deficiency was diagnosed for 25(OH)D levels of less than 20 ng/mL. Pearson and Spearman correlation coefficients were used to assess data. RESULTS: Seventy patients and 70 matched healthy subjects were included. 25-Hydroxyvitamin D was lower in the EORA group (27.13 [SD, 13.4] ng/mL vs. 33.74 [SD, 16.7] ng/mL; P = 0.01); 31.4% of EORA patients were vitamin D deficient. Remission was higher in subjects without 25(OH)D deficiency (22.7% vs. 47.9%; P = 0.04). Patients with 25(OH)D deficiency at baseline had higher Health Assessment Questionnaire and Physician Global Disease Activity Assessment scores, fatigue levels, erythrocyte sedimentation rate, and morning stiffness after 3 years. At disease onset, only a relationship between 25(OH)D deficiency with fatigue and morning stiffness was found. Neither radiographic progression nor Sharp van der-Heidje score was associated to hypovitaminosis D after 36-month follow-up. The bb genotype was less frequent in patients with vitamin D deficiency (0% vs. 16.6%; P = 0.04). Patients with BB-Bb genotype had lower 25(OH)D and a propensity to more severe disease. CONCLUSIONS: Our data provide further support for a role of vitamin D as a clinical biomarker for RA. Baseline 25(OH)D could have potential as a predictor of disease severity in EORA.

Are anti-CCP antibodies in psoriatic arthritis patients a biomarker of erosive disease?

To determine the frequency of anticyclic citrullinated peptide (CCP) antibodies in a cohort of psoriatic arthritis (PsA) patients and to compare clinical, serological and radiological characteristics between PsA patients with and without anti-CCP antibodies. Patients with PsA, according to classification criteria for PsA, were consecutively recruited from an outpatient rheumatology clinic. Demographic and clinical data were collected in all cases. Serum samples from all patients were analyzed for rheumatoid factor and anti-CCP antibodies. Radiographs of hands and feet were obtained and the presence of erosions was recorded. The study included 81 patients; 43 (53 %) were men, with a median age of 45.7 years (interquartile range (IQR) 39-72) and median disease duration of 9.4 years (IQR 2-14). Anti-CCP antibodies were found in 11 patients (13.5 %), median titer 174.9 U/ml. Polyarticular involvement (72.7 vs. 17.1 %), frequency of erosive disease (72.7 vs. 37.1 %) and use of tumor necrosis factor-α inhibitors (54.5 vs. 28.5 %) were significantly higher in PsA patients with anti-CCP positivity. Anti-CCP negative PsA patients had predominantly more oligoarticular (62.8 vs. 27.2 %) and nail (81.4 vs. 36.3 %) involvement. Presence of enthesitis, dactylitis and Psoriasis Area Severity Index scores were similar in both groups. Anti-CCP antibodies were found in a subset of PsA patients, and their presence was associated with more severe disease phenotype. Further studies in a larger population are needed to define the role of anti-CCP as a biomarker of erosive disease in PsA.

Comparative study of elderly-onset rheumatoid arthritis and young-onset rheumatoid arthritis in a Colombian population: clinical, laboratory and HLA-DRB1 findings.

OBJECTIVES: Elderly-onset rheumatoid arthritis (EORA) is considered to have different features in relation to young-onset rheumatoid arthritis (YORA). However, results from different evaluated populations worldwide have been inconsistent and in Colombia there are no known descriptions of the differences between these pathologies. The aim of this paper is to compare the clinical, laboratory and immunogenetic features in a Colombian population suffering with EORA and YORA. METHODS: EORA (≥65, n=104) and YORA (<65, n=96) patients were compared regarding clinical, laboratory and HLA-DRB1 alleles features. A control group without rheumatoid arthritis over 65 (n=179) was used to compare the HLA-DRB1 alleles. All patients met the ACR/1987 criteria for rheumatoid arthritis and the clinimetric index was calculated. RESULTS: The gender ratio (female/male) was 1.8:1 in EORA. In both groups, the main onset pattern of disease was an insidious polyarticular onset (p=0.35). EORA was characterised by more distal-proximal joint involvement in comparison to YORA (p=0.0007). In EORA, the rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies frequency was close to 50%, lower than in YORA (63%). In both groups, the DAS28 and HAQ-DI score was higher than 6 and 1, respectively. The HLA-DRB1*0403 and *1402 frequency was significantly higher in EORA than in YORA. Also, the shared epitope (p=0.0392), HLA-DRB1*01 (p=0.0068) and *0101 (p=0.0151) were associated with an anti-CCP positivity and the HLA-DRB1*0403 is protective for the anti-CCP presence in EORA (p=0.0201). CONCLUSIONS: EORA is characterised by a different clinical presentation and HLA-DRB1 alleles with respect to YORA. HLA-DRB1*0403 and *1402 are significantly more frequent in EORA compared to YORA.

The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population.

OBJECTIVES: C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. This work has investigated the possible association between PTPN22 C1858T (rs2476601) polymorphism and rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) in a Colombian population. METHODS: A case-control study included 1,042 samples from 413 RA, 94 SLE and 101 SSc patients and 434 healthy controls. The TaqMan allele discrimination assay was used for genotyping. RESULTS: The case-control study provided robust evidence of association between allele 1858T and RA (p=5E-05), as well as between 1858T and SLE (p=0.004). These observations were confirmed for both diseases by meta-analysis (p=2E-04, pooled OR 1.9; 1.3-2.7 95% CI for RA; p<0.0001, pooled OR 2.8, 1.8-4.5 95% CI for SLE). No significant association was observed between 1858T and SSc (p=0.98, OR 1.11, 0.46-2.65 95% CI). CONCLUSIONS: The study suggested that the PTPN22 1858T variant influences RA and SLE genetic background but not that of SSc in the Colombian population.

Vasculitides throughout history and their clinical treatment today.

Therapeutic management of the vasculitides is closely linked to modern rheumatologic advances, particularly as it relates to the discovery and first clinical use of glucocorticoids. These compounds were introduced in the late-1940s for the treatment of rheumatoid arthritis, but soon after, clinicians in Europe and the United States realized that they could have a significant positive impact in systemic vasculitides. However, once it was realized that glucocorticoid use was associated with a high degree of morbidity, the search for better immunosuppressive agents with similar efficacy but improved safety profiles was on. During the past several years, several agents have been utilized for the therapeutic management of systemic vasculitides, and the list keeps growing with the development of newer compounds that have retained efficacy but with a better safety profile.

Panniculitis: another clinical expression of gout.

Gouty panniculitis is an unusual clinical manifestation of gout, characterized by the deposition of monosodium urate crystals in the lobular hypodermis. Its pathogenesis is poorly understood but is associated with hyperuricemia, and the clinical presence of indurate subcutaneous plaques, which may precede or appear subsequently to the articular clinical expression of tophaceous gout. The aim of this report is to describe the clinical characteristics and potential risk factors for the development of lobular panniculitis secondary to chronic tophaceous gout. This is a retrospective clinical review of 6 patients with gouty panniculitis seen at the rheumatology service at the National University of Colombia. All cases fulfill diagnostic criteria for gout. The presenting clinical characteristics of each case were analyzed. All 6 patients were men, with an average age of 26 years. Two patients initially presented with cutaneous manifestations, and in the remainder 4 joint involvements preceded the cutaneous manifestations. Articular involvement first developed in lower extremities, of intermittent nature, and subsequent occurrence of polyarthritis of upper and lower extremities. A positive family history of gout was observed in half of the patients. Smoking and high alcohol intake were relevant risk factors. On physical examination, all exhibited the presence of erythematous, irregular surface, deep indurate subcutaneous plaques. Biopsy of skin and deep dermis including panniculus revealed the presence of granulomatous inflammatory changes with deposition of amorphous eosinophilic material surrounded by palisading histocytes and lymphocytes. Characteristic negative birefringent monosodium urate crystals were observed in the synovial fluid of patients with arthritis. All patients exhibited high levels of serum uric acid and were non-complaint to treatment with allopurinol, NSAIDs, and colchicine. Gouty panniculitis should be considered in the differential diagnosis of panniculitis, especially in the presence of high levels of uric acid. It is usually observed in the third decade of life and may appear prior to the inflammatory articular manifestations of tophaceous gout.

Potential biomarkers for detecting pulmonary arterial hypertension in patients with systemic sclerosis.

Pulmonary arterial hypertension (PAH) is the major complication of systemic sclerosis (SSc) and the main cause of morbi-mortality. It is important to find predictors for this vascular problem. The objective of this study was to determine the serum levels of different biomarkers in patients with SSc and secondary PAH and to compare them with those of healthy control subjects to define their potential role as predictors of PAH. Cross-section study in which 20 patients with SSc were included. PAH was diagnosed by echocardiogram. The optical densities of endoglin (Eng), endothelin-1 (ET-1), platelet-derived growth factor (PDGF), tumoral necrosis factor alpha (TNF-alpha), Transforming growth factor beta 2 (TGF-beta2) and Interleukin 8 (IL-8) were measured in 20 patients with SSc and 20 healthy controls matched by sex. The differences found between the group of patients with PAH and the control group were (mean or median and range): ET-1 (0.20; 0.10-0.35 vs. 0.16; 0.10-0.24; P = 0.0276), IL-8 (195.7; 45.5-504 vs. 118.9; 23-299.5; P = 0.0364), TNF-alpha (0.70; 0.50-0.96 vs. 0.48; 0.38-0.65; P = 1 x 10(-8)) and Eng (0.95; 0.57-1.72 vs. 0.75; 0.57-0.89; P = 0.0028). A correlation was found between the progression of the disease and the development of Raynaud's phenomenon (Rho: 0.67 and P = 0.0011), ET-1 and Eng (Rho: 0.53 and P = 0.0196), and between IL-8 and Eng (Rho: 0.68 and P = 0.0019). In conclusions, the elevation of the serum levels of Eng and ET-1 could represent a useful tool as PAH biomarkers. Nevertheless, the diagnostic value of these markers needs to be determined by prospective studies.

Osteonecrosis and antiphospholipid syndrome.

Osteonecrosis (ON), or avascular necrosis of bone, has been related to decreased blood flow to the bone. Many local and systemic factors have been implicated in the pathogenesis of ON, involving corticosteroid therapy, systemic lupus erythematosus (SLE), hemoglobinopathies, alcohol abuse, Caisson disease, Gaucher disease, and hypercoagulability states. We describe the case of a previously healthy young male with no history of corticosteroid therapy, who developed ON initially on the femoral head, and later on the humeral head with high levels of anticardiolipin antibodies (aCL), beta-2-glycoprotein 1 antibodies and positive lupus anticoagulant. The association between primary antiphospholipid syndrome (PAPS) and ON is controversial and few cases without other risk factors have been described. A review of ON pathogenesis and its relation with thrombotic microangiopathy because of PAPS is presented.

Predictors of Remission and Low Disease Activity State in Systemic Lupus Erythematosus: Data from a Multiethnic, Multinational Latin American Cohort.

OBJECTIVE: To determine the predictors of remission and low disease activity state (LDAS) in patients with systemic lupus erythematosus (SLE). METHODS: Three disease activity states were defined: Remission = SLE Disease Activity Index (SLEDAI) = 0 and prednisone ≤ 5 mg/day and/or immunosuppressants (maintenance dose); LDAS = SLEDAI ≤ 4, prednisone ≤ 7.5 mg/day and/or immunosuppressants (maintenance dose); and non-optimally controlled state = SLEDAI > 4 and/or prednisone > 7.5 mg/day and/or immunosuppressants (induction dose). Antimalarials were allowed in all groups. Patients with at least 2 SLEDAI reported and not optimally controlled at entry were included in these analyses. Outcomes were remission and LDAS. Multivariable Cox regression models (stepwise selection procedure) were performed for remission and for LDAS. RESULTS: Of 1480 patients, 902 were non-optimally controlled at entry; among them, 196 patients achieved remission (21.7%) and 314 achieved LDAS (34.8%). Variables predictive of a higher probability of remission were the absence of mucocutaneous manifestations (HR 1.571, 95% CI 1.064-2.320), absence of renal involvement (HR 1.487, 95% CI 1.067-2.073), and absence of hematologic involvement (HR 1.354, 95% CI 1.005-1.825); the use of immunosuppressive drugs before the baseline visit (HR 1.468, 95% CI 1.025-2.105); and a lower SLEDAI score at entry (HR 1.028, 95% CI 1.006-1.051 per 1-unit decrease). These variables were predictive of LDAS: older age at entry, per 5-year increase (HR 1.050, 95% CI 1.004-1.098); absence of mucocutaneous manifestations (HR 1.401, 95% CI 1.016-1.930) and renal involvement (HR 1.344, 95% CI 1.049-1.721); and lower SLEDAI score at entry (HR 1.025, 95% CI 1.009-1.042). CONCLUSION: Absence of mucocutaneous, renal, and hematologic involvement, use of immunosuppressive drugs, and lower disease activity early in the course of the disease were predictive of remission in patients with SLE; older age was predictive of LDAS.

Factors predictive of high disease activity early in the course of SLE in patients from a Latin-American cohort.

AIMS: To determine the factors predictive of disease activity early in the course of SLE (baseline visit). METHODS: Patients from GLADEL, a multi-national, multi-ethnic, Latin-American lupus cohort were included. Disease activity was evaluated at baseline with the SLEDAI score. Demographic characteristics (age at diagnosis, gender, ethnicity, marital status, educational level, medical coverage and socioeconomic status) were assessed. Disease duration was defined as the time between the fourth ACR criterion and baseline. Time to criteria accrual was defined as the interval between the first and fourth ACR criterion. Use of glucocorticoids was recorded as the highest dose received before the baseline visit. Antimalarials and immunosuppressive drugs were recorded as use or not use. Univariable and multivariable analysis were performed. Model selection was based on backward elimination. RESULTS: One thousand two hundred sixty-eight patients were included; 1136 (89.6%) of them were female. Mean age at diagnosis was 29.2 (SD: 12.3) years. Five hundred sixty-five (44.6%) were Mestizo, 539 (42.5%) were Caucasians and 164 (12.9%) were African-Latin-Americans. The mean SLEDAI at baseline was 10.9 (SD: 8.4). Longer time between first and fourth ACR criterion, medical coverage, a dose of prednisone between 15 and 60mg/d, and the use of antimalarials were factors protective of disease activity, while Mestizo and African-Latin-American ethnicities were predictive factors. CONCLUSIONS: Mestizo and African-Latin-American ethnicities were predictive whereas antimalarial use, medical coverage, and longer time to criteria accrual were protective of higher disease activity early in the disease course.

Features associated with hematologic abnormalities and their impact in patients with systemic lupus erythematosus: Data from a multiethnic Latin American cohort.

OBJECTIVE: To examine hematological manifestations' correlates and their impact on damage accrual and mortality in SLE patients from the multiethnic, Latin American, GLADEL cohort. METHODS: In patients with recent SLE diagnosis (≤2 years), the association between follow-up hematological manifestations (per ACR criteria) and socio-demographic and clinical variables was examined by univariable and multivariable logistic regressions; their impact on damage accrual and mortality was examined by Poisson and Cox proportional-hazards regression analyses, respectively. RESULTS: Of 1437 patients, 948 (66.0%) developed ≥1 hematological manifestation [5.5% hemolytic anemia (AHA), 16.3% thrombocytopenia, and 56.4% lymphopenia] over 4.3 (3.3) follow-up years. Younger age, Mestizo ethnicity, hematologic disorder (at/or before SLE diagnosis), and first damage recorded were associated with hematological manifestations while antimalarials were negatively associated. AHA (at/or before SLE diagnosis), anti-Sm, and anti-RNP antibodies were associated with subsequent AHA occurrence while musculoskeletal involvement was negatively associated. Thrombocytopenia (at/or before SLE diagnosis), AHA, anti-phospholipid antibodies (aPLs), anti-SSA/Ro, anti-SSB/La antibodies, and first damage recorded were associated with later thrombocytopenia occurrence. Lymphopenia (at/or before SLE diagnosis), younger age at diagnosis, Mestizo ethnicity, having medical insurance, and first damage recorded were associated with subsequent lymphopenia occurrence while antimalarials and azathioprine treatment were negatively associated. AHA was associated with damage accrual and mortality after adjusting for variables known to affect these outcomes. CONCLUSIONS: Mestizo ethnicity and early hematological manifestations are risk factors for their subsequent occurrence while antimalarials have a protective effect. The associations between AHA and aPLs and thrombocytopenia were corroborated. AHA contributes independently to damage accrual and diminished survival.

Niveles séricos de 25-hidroxivitamina D y su relación con síndrome metabólico en una población de hombres jóvenes no diabéticos / Serum levels of 25-hydroxy vitamin D and their relationship to metabolic syndrome in a population of young nondiabetic men

Resumen Introducción: los niveles no suficientes de vitamina D (VD) se han asociado a varias patologías no osteomusculares; sin embargo, es motivo de controversia si éstos se asocian a mayor prevalencia de síndrome metabólico (SM). Objetivo: determinar y comparar la frecuencia de insuficiencia y deficiencia de 25-hidroxivitamina D (25(OH)D) entre hombres jóvenes obesos no diabéticos y controles con peso normal, y su correlación con el estado de SM. Material y métodos: estudio de corte transversal, que incluyó 62 individuos con peso normal y 47 en obesidad, se determinaron los niveles séricos de 25(OH)D y se midieron parámetros antropométricos y bioquímicos para establecer criterios de SM. Resultados: de los 47 sujetos con obesidad, 25 tenían SM, mientas que ninguno de los sujetos de peso normal cumplía con dichos criterios. No se encontraron diferencias estadísticamente significativas en cuanto a la presencia de síndrome en correlación con los niveles de vitamina D (p=0.94). La media de los niveles séricos de 25(OH)D para la población total fue 30.6±8.3 ng/ mL; en sujetos normopeso 30.8±8.5 ng/mL y entre los obesos con SM fue 30.1±9.2 ng/mL y sin SM de 30.6±7.5 ng/mL. Por otro lado no hubo una correlación significativa entre los parámetros individuales de síndrome metabólico y los niveles séricos de VD, tanto de manera global, como en el análisis por subgrupos. Conclusión: no hubo una correlación significativa entre los niveles séricos de 25(OH)D con el estado de SM, tampoco se identificó ningún tipo de correlación significativa entre éstos y los parámetros antropométricos y bioquímicos estudiados.(Acta Med Colomb 2020; 45. DOI:doi.org/10.36104/amc.2020.1323).

Abstract Introduction: insufficient levels of vitamin D (VD) have been associated with several non-musculoskeletal diseases. However, whether they are associated with a greater prevalence of metabolic syndrome (MS) is a matter of controversy. Objective: to determine and compare the frequency of 25-hydroxy vitamin D (25(OH)D) insufficiency and deficiency in young, obese nondiabetic men and normal weight controls, and its correlation with metabolic syndrome. Material and methods: a cross-sectional study which included 62 normal weight and 47 obese individuals. Serum levels of 25(OH)D were ascertained and anthropometric and biochemical parameters were measured to establish MS criteria. Results: of the 47 obese subjects, 25 had MS, while none of the normal weight subjects met the criteria. There were no statistically significant differences in the presence of the syndrome related to the vitamin D levels (p=0.94). The mean serum 25(OH)D level for the total population was 30.6±8.3 ng/mL; in normal weight subjects it was 30.8±8.5 ng/mL, in obese subjects with MS it was 30.1±9.2 ng/mL, and in obese subjects without MS it was 30.6±7.5 ng/mL. Furthermore, there was no significant correlation between the individual MS parameters and serum VD, either globally or on subgroup analysis. Conclusion: there was no significant correlation between serum 25(OH)D levels and MS, nor was any significant correlation found between these and the anthropometric and biochemical parameters studied.(Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1323).

Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity.

We studied eight affected and four unaffected individuals from a Colombian family with autosomal dominant diffuse high bone density. Affected individuals have normal, proportional height and high serum alkaline phosphatase activity. Radiographically, affected members exhibit generalized, symmetrically diffuse endosteal hyperostosis of the long bones and skull with narrow medullary cavities and loss of the diploë, respectively. There is no periosteal reaction or decreased hematopoiesis. Furthermore, osteosclerosis affects vertebral bodies, ribs, pelvis, mandible, clavicles, and scapulae. Bone mineral density is 2.4-7.3 SD above the mean for age and gender in affected individuals. Affected vs. unaffected individuals' Z-scores were (mean +/- SD) 5.03 +/- 1.77 vs. 0.08 +/- 0.97, respectively, P = 0.0004). Three affected subjects older than 40 yr old lost bone mass in 6 yr. No dysmorphism, abnormal facial features, bone fractures, or cranial nerve involvement was found. The pattern of inheritance, the absence of asymmetries and malformations, the increased serum alkaline phosphatase, the peak bone mass that appears to decrease physiologically with age, and the involvement of cortical and trabecular bone suggest a new variant of hyperostosis/osteosclerosis that affects the entire skeleton.