Familial Systemic Lupus Erythematosus Research Articles

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.

49 Autoimmune hemolytic anemia revealing a familial systemic lupus erythematosus

BackgroundSystemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease; whose pathogenesis remains poorly understood. The genetic susceptibility to lupus is supported by the high concordance rate of the disease in monozygotic twins (29–57%) compared with dizygotic twins (2%), and by the existence of familial lupus (10–12%). Furthermore, SLE shares genetic and environmental risk factors, as well as pathophysiologic mechanisms with autoimmune hemolytic anaemia (AIHA), which is clearly over-represented in patients with SLE and often occurs before the diagnosis of the underlying disease.ObjectiveWe report a case of familial SLE in two siblings, in whom, the main symptom was AIHA.Case reportA twelve-year-old girl was referred to our Pediatric department for polyarthralgia, asthenia and anorexia developing over the previous 4–6 months. Regarding family history, she is born of a non-consanguineous marriage and has a 7-year-old brother who has been followed for 2 years for AIHA of undetermined aetiology. The examination upon admission objectified a splenomegaly and jaundice. The laboratory workup revealed an autoimmune hemolytic anaemia: haemoglobin: 7.2 g/dl, positive Coombs' test with specific anti globulin IgG and C3d; unconjugated bilirubin (45 µmol/l) and reduced haptoglobin (0.01 g/l). These findings being very evocative of SLE, an antinuclear antibody (AAN) assay was positive at 1/400. The formal SLE diagnosis was established according to the EULAR/ACR 2019 criteria; with a score of 12 (AIHA: 4; positive antiphospholipid antibodies: 2; positive anti-Sm antibodies: 6). The therapeutic management based on corticosteroids at a dose of 1 mg/kg/day, with a favorable clinical and biological outcome. In light of this diagnosis, the case of the aforementioned brother was reviewed, and a familial lupus was suspected. A physical examination and a several biological explorations were done, the results of which allowing to retain the diagnosis of SLE with EULAR/ACR 2019 score of 10 (ANA > 1/80, AIHA : 4, positive anti-phospholipid antibodies: 2, proteinuria: 4)ConclusionSince the new criteria EULAR/ACR 2019 have made it possible to diagnose incomplete forms of lupus, the challenge remains to detect autoimmune thyroiditis, antiphospholipid syndrome, complement deficiencies and other entities that are associated with familial lupus according to scientific literature.

Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.

This study aims to analyze the relationship between complement receptor 2 (CR2) gene mutation and the clinical phenotype in Chinese familial systemic lupus erythematosus (SLE). A total of one Chinese familial SLE patients (median age: 30.25 years; range, 22 to 49 years) were included between January 2017 and December 2018. The clinical features and diagnoses of familial SLE patients were analyzed using whole-exome sequencing (WES) of genomic deoxyribonucleic acid (DNA) samples. Sanger sequencing was used to verify candidate mutations detected in the examined family. The mother and her three daughters were diagnosed with SLE. The clinical characteristics showed that the patient and her mother were diagnosed with lupus nephritis. The eldest daughter had decreased renal function and lower serum albumin levels. Immunological index analysis showed that all four patients were positive for anti-SSA and antinuclear antibody (ANA), but that only the second daughter was positive for anti-double-stranded DNA (dsDNA). Complement 3 (C3) was significantly decreased in all patients, while evaluation of the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) showed that the second and third daughters had mild active SLE. The mother and eldest daughter were treated with prednisolone combined with cyclophosphamide, while the other two daughters were treated with prednisolone alone. The WES and Sanger sequencing analyses revealed an unreported missense T>C mutation c.2804 in the 15th exon of the CR gene in all four patients. We identified a novel c.2804 (exon 15) T>C mutation in the CR gene of Chinese familial SLE. This mutation was previously reported, suggesting that the CR gene c.2804 (exon 15) T>C mutation is the probable cause of SLE in this family.

Jagged Ends on Multinucleosomal Cell-Free DNA Serve as a Biomarker for Nuclease Activity and Systemic Lupus Erythematosus

Jagged ends of plasma DNA are a recently recognized class of fragmentomic markers for cell-free DNA, reflecting the activity of nucleases. A number of recent studies have also highlighted the importance of jagged ends in the context of pregnancy and oncology. However, knowledge regarding the generation of jagged ends is incomplete. Jaggedness of plasma DNA was analyzed based on Jag-seq, which utilized the differential methylation signals introduced by the DNA end-repair process. We investigated the jagged ends in plasma DNA using mouse models by deleting the deoxyribonuclease 1 (Dnase1), DNA fragmentation factor subunit beta (Dffb), or deoxyribonuclease 1 like 3 (Dnase1l3) gene. Aberrations in the profile of plasma DNA jagged ends correlated with the type of nuclease that had been genetically deleted, depending on nucleosomal structures. The deletion of Dnase1l3 led to a significant reduction of jaggedness for those plasma DNA molecules involving more than 1 nucleosome (e.g., size ranges 240-290 bp, 330-380 bp, and 420-470 bp). However, less significant effects of Dnase1 and Dffb deletions were observed regarding different sizes of DNA fragments. Interestingly, the aberration in plasma DNA jagged ends related to multinucleosomes was observed in human subjects with familial systemic lupus erythematosus with Dnase1l3 deficiency and human subjects with sporadic systemic lupus erythematosus. Detailed understanding of the relationship between nuclease and plasma DNA jaggedness has opened up avenues for biomarker development.

Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a kind of autoimmune inflammatory connective tissue disease which seriously endangers human health. Genetic factors play a key role in the pathogenesis of SLE. This study aims to investigate a novel phospholipase D2 (PLD2) mutation associated with familial SLE, and further explore the underlying mechanism of the mutation in SLE. The blood samples from a SLE patient, the patient's parents, and 147 normal controls were collected and DNA was extracted. Whole genome high-throughput sequencing was performed in the patient and her parents and the results were further analyzed by various bioinformatics methods. The wild type (wt), mutant type (mu), and negative control PLD2 plasmids were further constructed and transfected into 293 cells. The expression level of HRAS protein in 293 cells was detected by Western blotting. In this SLE family, the female SLE patient and her mother, 1 in generation II and 1 in generation III had typical clinical manifestations of SLE, and all of them had lupus nephritis at early stage. The genetic characteristics are consistent with autosomal dominant inheritance. A novel PLD2 heterozygous mutation (c.2722C>T) was found in the patient and her mother, but not in her father and other normal controls. Compared with wtPLD2 plasmid and negative control PLD2 plasmid, the expression of HRAS in 293 cells transfected with muPLD2 plasmid was significantly up-regulated (both P<0.05). PLD2 c.2722C>T mutation may be one of the pathogeny of SLE in this family.

Chronic psychiatric illness masquerading as bipolar disorder in a family secondary to familial systemic lupus erythematosus with limbic encephalitis.

Chronic psychiatric illness masquerading as bipolar disorder in a family secondary to familial systemic lupus erythematosus with limbic encephalitis.

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

This study aimed to compare the clinical features, damage accrual, and survival of patients with familial and sporadic systemic lupus erythematosus (SLE). 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. 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). 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.

Familial Aggregation of Childhood- and Adulthood-Onset Systemic Lupus Erythematosus.

To assess the familial occurrence of systemic lupus erythematosus (SLE) in a large Brazilian cohort. Consecutive patients with SLE were recruited and stratified according to age at disease onset into childhood-onset SLE or adult-onset SLE. Each patient was personally interviewed regarding the history of SLE across 3 generations (first-, second-, and third-degree relatives). Recurrence rates were analyzed for each degree of relation. We included 392 patients with SLE (112 with childhood-onset SLE and 280 with adult-onset SLE). We identified 2,574 first-degree relatives, 5,490 second-degree relatives, and 6,805 third-degree relatives. In the combined overall SLE cohort, we observed a familial SLE recurrence rate of 19.4 in first-degree relatives, 5.4 in second-degree relatives, and 3.0 in third-degree relatives. Recurrence rates were higher for first- and second-degree relatives of patients with childhood-onset SLE than for first- and second-degree relatives of patients with adult-onset SLE (25.2 versus 18.4 for first-degree, and 8.5 versus 4.5 for second-degree), while in third-degree relatives, recurrence rates were higher in adult-onset SLE than in childhood-onset SLE (P = 2.2 × 10-4 for differences in recurrence proportions between childhood-onset SLE and adult-onset SLE). There were no phenotypic differences in patients from multicase versus single-case families, and there was no sex-skewing observed in the offspring of patients with SLE. The greater decline in SLE recurrence rate by generation in childhood-onset SLE versus adult-onset SLE suggests a more polygenic and epistatic inheritance and suggests that adult-onset SLE may be characterized by fewer risk factors that are individually stronger. This finding suggests a higher genetic load in childhood-onset SLE versus adult-onset SLE and a difference in the genetic architecture of the disease based on age at onset.

Homeostatic Milieu Induces Production of Deoxyribonuclease 1-like 3 from Myeloid Cells.

DNase 1-like 3 (DNase1L3), which belongs to DNase1 family, was originally identified as one of apoptosis- and necrosis-related endonucleases that fragmentate intranucleosomal DNA. A loss-of-function mutation has been reported in murine models of systemic lupus erythematosus (SLE) and in familial SLE patients. These reports suggest DNase1L3 plays an important role in the prevention of developing SLE; however, expression and function of DNase1L3 in human immune systems have been largely unclarified. As previous reports showed DNase1L3 is expressed in hematopoietic organs, we first analyzed expression levels of DNase1L3 in each subset of human peripheral blood cells by quantitative real-time PCR. Plasmacytoid dendritic cells showed the highest expression levels of DNase1L3 mRNA among peripheral blood cells. IL-4 enhanced DNase1L3 expression in monocytes, monocyte-derived dendritic cells, and monocyte-derived macrophages (MDMs), but not in T cells, B cells, or plasmacytoid dendritic cells. Together with IL-4, all-trans retinoic acid and apoptotic cells efficiently upregulated expression of DNalse1L3 in MDMs. As a result of intracellular signaling analysis, Jak1-IRS2-ERK/PI3K pathway was essential for IL-4-induced DNase1L3 expression. IL-4-treated monocyte-derived dendritic cells and MDMs secreted active DNase1L3 protein that could degrade liposome-DNA complexes, which were resistant to DNase1. Our results indicate DNase1L3 is secreted by innate immune cells and may play a critical role in the tissue homeostasis and on prevention of developing autoimmunity by degrading self-DNA.

Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren’s syndrome highlight T cell-initiated autoimmunity

ObjectivesFamilial aggregation of primary Sjögren’s syndrome (pSS), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and co-aggregation of these autoimmune diseases (ADs) (also called familial autoimmunity) is well recognised. However, the...

Familial lupus in Tunisia: a series of 14 families.

The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in which the diagnosis of lupus could be verified in at least two relatives were included in the study. All patients fulfilled four or more criteria defined by the American College of Rheumatology. Twenty-seven patients (23 females and 4 males) with familial SLE among a cohort of 253 SLE patients were found, resulting in a frequency of 10.67%. No significant differences were found between familial SLE cases and their controls in terms of sex ratio, mean age at onset and clinical and serological manifestations, which is consistent with the results of other series reported in the literature. Our results support the importance of carrying out more genetic studies within families of SLE in order to have a better understanding of the genetic and molecular mechanisms of the disease.

Long-term renal outcomes and related risk factors of familial systemic lupus erythematosus patients with lupus nephritis .

To investigate the renal pathological characteristics, renal outcomes and risk factors in lupus nephritis (LN) patients qualified as familial systemic lupus erythematosus (SLE). Patients with biopsy-proven LN of familial SLE were enrolled. The clinical, laboratory, and pathological data of familial patients were analyzed and compared with those of sporadic SLE patients. The renal prognosis and risk factors were also assessed. 68 biopsy-proven familial SLE patients with LN were investigated. They were 17 males and 51 females with an average onset age of 25.4 years. The proportion of males in the familial group was higher than that in the sporadic group (p=0.008). LN class IV was the most common class. Significantly, a higher amount of fibrotic crescents (p=0.001) was observed in the sporadic group, while other renal lesions were comparable. With a median follow-up of 51.7months in 48 familial SLE patients, 14.6% patients progressed to end-stage renal disease (ESRD). The 5-year cumulative renal survival rate from ESRD was 82.8%. Serum creatinine at biopsy (HR 2.359, p=0.01) was the independent risk factor of renal outcomes. A serum creatinine level > 1.7mg/dL predicted progression to ESRD (p=0.015). Renal insufficiency at biopsy of familial SLE patients predicted poor renal outcome. Most renal laboratory and pathological features between familial and sporadic SLE were broadly similar. .

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder. Early-onset, familial, and/or syndromic SLE may reveal monogenic pathologies. The aim of this study was to examine genetic associations in patients with early-onset or familial SLE. We enrolled 7 SLE cases (from different families) with disease onset ≤ 5 years of age and family history consistent with an autosomal recessive inheritance. Whole exome sequencing (WES) was performed in 6 index cases. Suspected variants were confirmed by Sanger sequencing. We did not perform WES in 1 patient who had features similar to the first 3 cases; only the exons of C1QA, C1QB, and C1QC were screened with Sanger sequencing. We demonstrated 2 novel and 3 previously reported variants in genes associated with SLE: a homozygous non-sense alteration (c.622C>T/p.Gln208Ter) in C1QA in 2 patients; homozygous non-sense alteration (c.79C>T/p.Gln27Ter) in C1QC in 1 (novel variant); homozygous missense alteration (c.100G>A/p.Gly34Arg) in C1QC in 1; homozygous missense alteration (c.1945G>C/p.Ala649Pro) in C1S in 1 (novel variant); and homozygous frameshift alteration (c.289_290delAC/p.Thr97Ilefs*2) in DNASE1L3 in 1 patient. Further, in 1 patient, we determined a strong candidate variant in HDAC7 (histone decetylase 7). Five patients had homozygous alterations in genes coding early complement proteins. This may lead to decreased clearance of apoptotic bodies. One patient had DNASE1L3 variant, which functions in the clearance of self-antigens. In 1 patient, we determined a novel gene that may be important in SLE pathogenesis. We suggest that monogenic causes/associations should be sought in early-onset and/or familial SLE.

Vβ T cell receptor (TCR) genes in circulating cells of patients with systemic lupus erythematosus and their healthy relatives

We investigated the proportion of Vβ T cell receptor (TCR) gene expression in peripheral CD3+ lymphocytes in familial and non-familial systemic lupus erythematosus (SLE) patients. The Vβ TCR repertoire was studied in 14 families in which several members had SLE. The Vβ TCR usage in SLE patients (n = 27) was compared with that in healthy members of these multiplex families (n = 47), in 37 sporadic SLE patients who had no relatives with SLE, and in 15 healthy unrelated controls. Vβ TCR repertoire expression was studied by multiparameter flow cytometry with the use of an array of 24 different Vβ TCR gene family-specific monoclonal antibodies. We found the same Vβ TCR expression profile in the comparisons between sporadic SLE and familial SLE cases and healthy relatives, which included increased expression of Vβ 5.2, Vβ 11 and Vβ 16, and lower expression of Vβ 3, Vβ 4, Vβ 7.1 and Vβ 17. Interestingly, solely Vβ 17 was differentially expressed among sporadic and familial SLE. Also, increased expression of Vβ 9 was the hallmark among familial SLE (casesand h ealthy relatives) in comparison to controls. These results highlight the notion that the final profile of the Vβ TCR repertoire seen in familial and non-familial SLE seems to arise from the interaction of genetic, environmental, and immunoregulatory factors. Furthermore, it may contribute to the immunologic abnormalities affecting relatives of SLE patients.

Systemic lupus erythematosus with and without a family history: a meta-analysis.

Objective The objective of this paper is to investigate the association of clinical manifestations and laboratory parameters between familial systemic lupus erythematosus (SLE) and sporadic SLE. Methods All relevant literature was retrieved from the PubMed, EMBASE, Web of Science and China National Knowledge Infrastructure (CNKI) databases. The qualities of these studies were evaluated using a modified version of the Newcastle-Ottawa scale. The characteristics and clinical manifestations of involved individuals were extracted from each study. Pooled odds ratio (OR) was calculated using the random effects-method, and the heterogeneity between studies was quantified using the I2 statistic. Results Of 330 studies identified by the search strategy, six were included in this review. In total, 733 cases were familial SLE and 1405 were sporadic SLE. Analysis revealed that photosensitivity, nephritis and thrombocytopenia were negatively associated with familial SLE, with OR (95% CI) values of 0.73 (0.60-0.89), 0.72 (0.59-0.88) and 0.75 (0.57-0.98), respectively. Conclusions Photosensitivity, thrombocytopenia and renal involvement could be more common in non-familial SLE, which should be further confirmed by well-designed studies with large populations.

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

ObjectiveStudies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE. MethodsGENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials.gov #NCT01992666). Clinical and laboratory data from the first 64 patients younger than 18 years who were included in the first part of the study were collected retrospectively. Predefined criteria were used to divide the patients into three subgroups: syndromic SLE (n=10) and familial SLE (n=12) – both presumed to have a strong genetic component – and other forms of early-onset SLE (n=42). ResultsThe predefined criteria for identifying subgroups based on knowledge of the clinical and epidemiological features of monogenic SLE showed a significantly younger age at onset in syndromic SLE (P<0.05) and a lower frequency of joint manifestations in familial SLE. ConclusionsIn this study, clinical and epidemiological data alone failed to identify a specific patient subgroup characterized by the same disease presentation or progression. This result may be related to the small sample size or indicate marked heterogeneity of juvenile-onset SLE. Genetic studies using new sequencing techniques in these patients might identify genetic factors responsible for marked phenotypic variability.

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Antibodies to DNA and chromatin drive autoimmunity in systemic lupus erythematosus (SLE). Null mutations and hypomorphic variants of the secreted deoxyribonuclease DNASE1L3 are linked to familial and sporadic SLE, respectively. We report that DNASE1L3-deficient mice rapidly develop autoantibodies to DNA and chromatin, followed by an SLE-like disease. Circulating DNASE1L3 is produced by dendritic cells and macrophages, and its levels inversely correlate with anti-DNA antibody response. DNASE1L3 is uniquely capable of digesting chromatin in microparticles released from apoptotic cells. Accordingly, DNASE1L3-deficient mice and human patients have elevated DNA levels in plasma, particularly in circulating microparticles. Murine and human autoantibody clones and serum antibodies from human SLE patients bind to DNASE1L3-sensitive chromatin on the surface of microparticles. Thus, extracellular microparticle-associated chromatin is a potential self-antigen normally digested by circulating DNASE1L3. The loss of this tolerance mechanism can contribute to SLE, and its restoration may represent a therapeutic opportunity in the disease.

Systemic lupus erythematosus: Specific features of its course and therapy options

The prevalence of systemic lupus erythematosus (SLE) varies greatly in different regions of the world. The disease is encountered in different age groups; however it is most common in young and adolescent women (its peak incidence is in the range of 15–25 years). Familial SLE cases are known. The course of SLE in pregnant women is noted to have features due to an increased risk for complications and to pharmacotherapeutic peculiarities. Risk factors for poor pregnancy outcomes, such as high disease activity at the time of conception, active lupus nephritis, and the presence of antiphospholipid antibodies (APA), are identified in patients with SLE. The paper presents antenatal fetal death predictors: proteinuria, thrombocytopenia, APA, and hypertension. When SLE is concurrent with secondary antiphospholipid syndrome (APS), the risk of poor pregnancy outcome is 30%. Management tactics for pregnant women with APS and a dosage regimen are shown to largely depend on history data (the presence (absence) of nonplacental thromboses, the number of spontaneous abortions, prior therapy, etc.). There are four patient groups: 1) patients who have only anticardiolipin antibodies without previous pregnancy or one episode of unexplained abortion at less than 10 weeks’ gestation with no history of thrombosis; 2) those who have APS with no history of nonplacental thrombosis and have anticardiolipin antibodies and a history of two or more unexplained spontaneous abortions at less than 10 weeks’ gestation; 3) those who have APS and a history of nonplacental thromboses (who have taken warfarin prior to pregnancy); 4) those in whom standard therapy is ineffective during their next pregnancy. The paper presents therapy options for each patient group. It is concluded that effective therapeutic strategy for SLE, including that in pregnant women, implies patient monitoring to long maintain remission (low disease activity).

Familial Lupus and Clinical Characteristics in Saudi Arabia

Background: It has been proven that a family history of systemic lupus erythematosus (SLE) is a risk factor for the development of the disease, and the risk increases with increasing number of relatives affected. In Saudi Arabia, high consanguinity rate leads to higher incidence of familial form than in other countries. We compare the percentage of familial versus sporadic SLE among Saudi patients. The second aim of the present study is to compare clinical characteristics between the two forms of the disease. Methods: This cross-sectional study includes 47 female patients whom are selected and investigated through three phases. We have added additional two categories of relatives, based on unconventional definition. We have examined and compared demographic characteristics of the patients with familial and sporadic SLE. We have also compared the percentage of familial vs. sporadic lupus and clinical characteristics of the two forms. Results: All the patients are females, aged between 18 and 43 years. The highest percentage of patients resides in the central region of Saudi Arabia (34%). The origin of the big family or tribe also most commonly occurs in the central region (34%). Data analysis results in 27.7% of patients with familial form of SLE. Sporadic form is found in 72.3% of patients. Consanguinity between patients’ parents is noticed in both familial form (61.5%) and sporadic form (58.8%). Clinical manifestations are similar between patients with familial and sporadic form. Conclusion: Our results show a high percentage of familial lupus among Saudi patients. More research is required in order to estimate the inheritance pattern of familial SLE and involvement of genetic and environmental factors.

A9.15 Higher disease damage among african americans with familial versus sporadic systemic lupus erythematosus

BackgroundStudies in Caucasian cohorts have found no significant clinical or serologic differences in systemic lupus erythematosus (SLE) patients with a family history of SLE compared to those with no family...