Family History Of Systemic Lupus Erythematosus Research Articles

Family history of arthritis, osteoporosis, and carpal tunnel syndrome and risk of these conditions among U.S. adults.

The aim was to estimate odds ratios of associations between family history of arthritis, osteoporosis, and carpal tunnel syndrome and prevalence in a real-world population, uncovering family histories of related conditions that may increase risk due to shared heritability, condition pathophysiology, or social/environmental factors. Using data from 156,307 participants in the All of Us (AoU) Research Program, we examined associations between self-reported first-degree family history of 5 common types of arthritis (fibromyalgia, gout, osteoarthritis (OA), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE)), osteoporosis, and carpal tunnel syndrome and prevalence. We evaluate associations across 7 conditions and performed stratified analyses by race and ethnicity, sex, socioeconomic differences, body mass index, and type of affected relative. Over 38% of AoU participants reported a family history of any arthritis, osteoporosis, or carpal tunnel syndrome. Adults with a family history of any arthritis, osteoporosis, and carpal tunnel syndrome exhibited 3.68 to 7.59 (4.90, on average) odds of having the same condition, and 0.70 to 2.10 (1.24, on average) odds of having a different condition. The strongest associations observed were between family history of OA and prevalence of OA (OR 7.59, 95%CI 7.32-7.88), and family history of SLE and prevalence of SLE (OR 6.34, 95%CI 5.17-7.74). We additionally uncover race and ethnicity and sex disparities in family history associations. Family history of several related conditions was associated with increased risk for arthritis, osteoporosis, and carpal tunnel syndrome, underscoring the importance of family history of related conditions for primary prevention.

Late-Onset Familial Systemic Lupus Erythematosus With Lupus Nephritis in an 82-Year-Old Male: A Case Report and Literature Review.

Systemic lupus erythematosus (SLE) rarely occurs in men of any age. Late-onset SLE (typically after the age of 50) presents special challenges. We report a case of SLE with renal involvement in a very old man. The patient, who was 82 years old, presented with acute kidney injury and a family history of SLE. He was diagnosed with lupus nephritis based on clinical criteria, although no renal biopsy was performed. After starting corticosteroid therapy, his condition improved markedly, with recovery of renal function and resolution of proteinuria and hematuria. The patient's case is notable for its advanced age and familial context, with a milder form of lupus compared with his relatives. Despite the absence of severe kidney damage, the patient's treatment with corticosteroids was effective, reflecting the unique and rare nature of this case.

Epidemiological, clinical, and biochemical characteristics of patients in the LUPUS-IMMex cohort

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect multiple organs and body systems. To describe the sociodemographic, clinical, and biochemical characteristics of the Lupus-IMMS-Mexico (LUPUS-IMMex) patient cohort from a tertiary-level center. Observational descriptive study of 160 patients with diagnosis of SLE belonging to the aforementioned cohort. Various variables were analyzed at the time of diagnosis. For quantitative variables, normality tests were applied, followed by measures of central tendency and dispersion according to their distribution. For categorical variables, frequencies and percentages were calculated. 81.87% of the patients were female, with a median age at diagnosis of 28 years. 18.12% had a family history of SLE, and concurrently with SLE, 32.50% had hypertension, and 11.25% had antiphospholipid syndrome. The most common clinical manifestation was joint involvement (68.12%), renal (49.37%) and hematological (43.75%) manifestations. SLE affects millions globally. Lack of awareness leads to delayed diagnoses, suboptimal management, and diminished quality of life. After analyzing 160 patients with SLE, their clinical, socioeconomic, and therapeutic characteristics are largely like other cohorts, with differences attributable to ethnic and geographical influences. Informing patients about SLE and providing reliable resources are essential for self-care. Awareness promotes research, therapies, and enhances medical care and the lives of patients globally.

The role of environmental exposures and gene-environment interactions in the etiology of systemic lupus erythematous.

Systemic lupus erythematosus (SLE) is a complex, chronic autoimmune disease, whose etiology includes both genetic and environmental factors. Individual genetic risk factors likely only account for about one-third of observed heritability among individuals with a family history of SLE. A large portion of the remaining risk may be attributable to environmental exposures and gene-environment interactions. This review focuses on SLE risk associated with environmental factors, ranging from chemical and physical environmental exposures to lifestyle behaviors, with the weight of evidence supporting positive associations between SLE and occupational exposure to crystalline silica, current smoking, and exogenous estrogens (e.g., oral contraceptives and postmenopausal hormones). Other risk factors may include lifestyle behaviors (e.g., dietary intake and sleep) and other exposures (e.g., ultraviolet [UV] radiation, air pollution, solvents, pesticides, vaccines and medications, and infections). Alcohol use may be associated with decreased SLE risk. We also describe the more limited body of knowledge on gene-environment interactions and SLE risk, including IL-10, ESR1, IL-33, ITGAM, and NAT2 and observed interactions with smoking, UV exposure, and alcohol. Understanding genetic and environmental risk factors for SLE, and how they may interact, can help to elucidate SLE pathogenesis and its clinical heterogeneity. Ultimately, this knowledge may facilitate the development of preventive interventions that address modifiable risk factors in susceptible individuals and vulnerable populations.

26441 Palisaded and neutrophilic granulomatous dermatitis in a child

Palisaded and neutrophilic granulomatous dermatitis (PNGD) is a rare entity that occurs in conjunction with autoimmune diseases as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), juvenile idiopathic arthritis, sarcoidosis, and mixed connective tissue disease. Autoimmune diseases in pediatric patients can be challenging to diagnose. We present the first pediatric case of PNGD associated with SLE. A 10-year-old girl with a history of atopic dermatitis, asthma, and a family history of SLE and RA presented to the ED with palpable purpura of the lower extremities and arthralgias and was diagnosed clinically with Henoch- Schoenlein purpura.

Clinical Features and Disease Damage Risk Factors in an Egyptian SLE Cohort: A Multicenter Study.

Systemic lupus erythematosus (SLE) has a variable natural history and clinical characteristics. This study aims to evaluate the clinical and immunological characteristics, and assess the disease accrual of an Egyptian SLE cohort. The study included 569 SLE patients who were collected from three different centers; demographic, laboratory data, cumulative manifestations, and comorbidities were assessed (characteristics at the time of diagnosis were recorded retrospectively, while current clinical data were recorded cross-sectionally). Evaluation of disease activity was done using Systemic Lupus Erythematosus Disease Activity Index score (SLEDAI) and damage by Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SDI). The median age of patients at disease onset was 25.0±10.5 years, the median disease duration was 4.0 (6.5) years, the female to male ratio was (12.5:1), and the median SLEDAI was 12.0±14.0. Family history of SLE was noticed in 4%. Antinuclear antibody was positive in all patients and 86% had positive anti-double-stranded DNA. Arthritis/arthralgia was the most frequent presenting symptom (44%) followed by fever (39%). Along the disease course; alopecia was the most common clinical manifestation (76.1%), followed by constitutional symptoms (75.9%), and nephritis (65.7%). Three hundred and five patients encountered organ damage (SDI >1); kidney damage was the most frequent (32%), followed by cardiovascular damage (24.3%). Neutropenia, hypocomplementemia, arthritis, hypertension, longer disease duration, and higher disease activity were found to be independent risk factors for disease damage. There are some diversities and similarities in our findings compared to the previously reported data. Arthritis is the most common presenting symptom, while alopecia is the most frequent clinical finding, and a higher prevalence of nephritis was reported. Renal damage is the most frequent outcome.

Effect of Health Education based Intervention on Self-care among Systemic Lupus Erythematosus Clients

Systemic Lupus Erythematosus (SLE) disease and disease-related consequences as well as treatment-related adverse events have a significant negative effect on life expectancy and quality of life of SLE clients. The study aimed to evaluate the effect of health education based intervention on self-care among systemic lupus erythematosus clients. Design: A quasi experimental design was used. Setting: The study was conducted in Rheumatology Outpatients’ clinic of Benha Teaching Hospital. Sample: A Convenient sample of systemic lupus erythematosus clients was recruited. There were 60 clients. Tools: I- structured interviewing questionnaire to determine demographic characteristics of SLE clients, disease characteristics. II- Systemic Lupus Erythematosus Assessment Tool to assess client's knowledge about SLE and clients’ practices about self-care. III- Lupus Patient Reported Outcomes (lupus PRO). Results: Showed that, the mean age of studied clients was 28.76±5.98, 90% were female, 40% had the disease from 1 to <5 years. 36.7% of them had a family history of SLE, 45% of studied clients had average total knowledge and 0% had good total knowledge scores regarding SLE disease, only18.3% had satisfactory total self-care reported practices score and 16.7% had moderate total Lupus PRO score pre intervention, while post intervention; good total knowledge scores increased to 95 % and average total knowledge decreased to 5%, satisfactory total self-care reported practices increased to 83.3% and moderate total Lupus PRO score increased to 65%. Conclusion: This study concluded that there were a significant improvement in studied clients' knowledge, self-care practices and Lupus PRO regarding SLE disease. Recommendations: Establishing patient education programs to improve SLE clients care by written instructions must be available in all rheumatology clinics. Replicate this study for large number of clients and in different settings.

Understanding the role of environmental factors in the development of systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a multisystem disease with a complex etiology. Its risk is higher among women, racial and ethnic minorities, and individuals with a family history of SLE or related autoimmune diseases. It is believed that genetic factors interact with environmental exposures throughout the lifespan to influence susceptibility to developing SLE. The strongest epidemiologic evidence exists for increased risk of SLE associated with exposure to crystalline silica, current cigarette smoking, use of oral contraceptives, and postmenopausal hormone replacement therapy, while there is an inverse association with alcohol use. Emerging research results suggest possible associations of SLE risk with exposure to solvents, residential and agricultural pesticides, heavy metals, and air pollution. Ultraviolet light, certain infections, and vaccinations have also been hypothesized to be related to SLE risk. Mechanisms linking environmental exposures and SLE include epigenetic modifications resulting from exposures, increased oxidative stress, systemic inflammation and inflammatory cytokine upregulation, and hormonal effects. Research needs to include new studies of environmental risk factors for SLE in general, with a focus on lifetime exposure assessment. In addition, studies in susceptible subgroups, such as family members, studies based on genetic risk profiles, and studies in individuals with evidence of pre-clinical autoimmunity based on the detection of specific auto-antibodies are also required. Understanding the role of environmental exposures in the development of SLE may help identify modifiable risk factors and potential etiological mechanisms.

Association between 318C/T polymorphism of the CTLA‐4 gene and systemic lupus erythematosus in Iranian patients

Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is an important negative regulator of T-cell response. It is a functional candidate gene connected with susceptibility to systemic lupus erythematosus (SLE). We analyzed the role of -318C/T polymorphism in the promoter region of the CTLA-4 gene in Iranian patients suffering from SLE. A total of 180 SLE patients and 304 healthy ethnically matched controls were enrolled in the study. DNA was extracted from blood samples according to the standard procedure. Polymerase chain reaction restriction fragments length polymorphism (PCR-RFLP) was used to analyze the genotype and allele frequencies of these polymorphisms. The CC genotype was observed in 170 (94.5%) of the SLE patients, which was significantly different compared to the controls (251 [82.4%]; P=0.0001, OR=3.51 95%CI=1.77-7.53). T allele was significantly more common in the controls (9.2%) compared to SLE patients 2.8% (P=0.0001, OR=0.26, 95%CI=0.13-0.53). There was no significant correlation between different genotypes and age, gender or family history of SLE in the studied population. It can be concluded that -318C/T polymorphism of CTLA-4 gene might play a significant role in the development of SLE in the Iranian patients.

Factores de riesgo relacionados con lupus eritematoso sistémico en población mexicana

To assess risk factors associated with systemic lupus erythematosus (SLE) in the Mexican population. A case-control study was conducted on June 1996, at the Reumathology Clinic of Hospital de Especialidades del Centro Médico Nacional Siglo XXI (HE CMN), Instituto Mexicano del Seguro Social, in Mexico City. Cases were one hundred thirty subjects with four or more SLE criteria and disease evolution of +/- 5 years. Controls were hospitalized patients with acute diseases but without autoimmune diseases. Cases and controls were matched 1:1 by age and gender; both groups were evaluated by direct interview through a structured questionnaire. The following risk factors were assessed: genetic family history of SLE and connective tissue disease; socioedemographic (ethnicity, geographic distribution, education, monthly income); hormonal (use of oral contraceptives, replacement therapy and gynecoobstetric background); environmental (use of hair products, living with dogs, bacterial/viral infections, and allergies). Statistical analysis consisted of odd ratios (OR) with 95% confidence intervals (CI) and multivariate analysis using logistic regression. The multivariate model showed association with family history of SLE (OR 4.2, CI 95% 1.17-15.2), family history of connective tissue disorder (OR 2.6, CI 95% 1.15-4.5), use of oral contraceptives for more than one year (OR 2.1, CI 95% 1.13-4.3), repetitive pharyngitis (OR 2.1, CI 95% 1.18-3.6), and use of medications (OR 5.0 IC 95% 1.62-21.6). No association was found with socieconomic status, hair dye products, asthma, or allergies. Genetic factors, such as family history of SLE and connective tissue disease in first-degree relatives, persist as important factors in the development of SLE. Other factors, such as use of some drugs, oral contraceptives, and repetitive pharyngitis, may also favor the onset of disease in genetically susceptible hosts. The English version of this paper is available at: http://www.insp.mx/salud/index.html.

Antiphospholipid antibodies and ischaemic heart disease

Antiphospholipid antibodies (APA) have been detected in various conditions including venous and arterial thrombosis, recurrent fetal loss, thrombocytopenia and cardiac valvular lesions. APA were initially found in patients with systemic lupus erythematosus (SLE) but later have been demonstrated also in patients without connective tissue disease. We report the extensive evaluation of a 24-year-old otherwise healthy male with APA and a family history of SLE who presented with severe ischaemic heart disease requiring coronary by-pass surgery.

The “Primary” Antiphospholipid Syndrome

The antiphospholipid syndrome--the association of venous and/or arterial thromboses, often accompanied by thrombocytopenia in the presence of the antiphospholipid antibodies ("lupus anticoagulant" antibodies to cardiolipin)--is seen mainly in patients with systemic lupus erythematosus (SLE) and the closely related "lupus-like" disease, i.e., lupus patients not conforming to the 1982 revised American Rheumatism Association classification for SLE. It is also seen in a group of patients who do not manifest any of the major clinical or serologic features of SLE, the majority of whom do not appear to progress to classical lupus. A multicenter study of 70 of these patients is documented and their major clinical and serologic characteristics examined: They have been characterized as suffering from a "primary" antiphospholipid syndrome and present typically with a history of deep vein thromboses, often accompanied by pulmonary thromboembolism, which in a few is complicated by thromboembolic pulmonary hypertension, arterial occlusions (most commonly strokes), or fetal loss. The events are often recurrent and may be accompanied by hemocytopenias (thrombocytopenia and less frequently Coombs positivity and/or hemolytic anemia). They are often antinuclear antibody-negative and are always negative for antibodies to dsDNA and to ENA, typical serologic features of SLE. There may be a family history of SLE or a familial clotting tendency in a minority. The group of patients presented appears to be closely related, but distinctly separate from SLE.