Background/Objectives: Immunosuppression (IS) is a standard therapy for lupus nephritis (LN). Data on the outcomes of patients with LN after the discontinuation of immunosuppression remain uncertain. This study aimed to evaluate the outcomes and results of patients with lupus nephritis (LN) who ceased immunosuppressive (IS) therapy. Methods: Records were obtained on the clinical and laboratory features of LN patients who were treated at our Lupus Unit. They included median values and ranges for various numerical variables such as patient age, disease duration, and treatment duration. Categorical variables such as gender, LN class, IS treatment type, and patient outcomes, which were categorized as either "stable" or "flare experienced", were presented as percentages and frequencies. A flare in LN was characterized by a two-fold increase in serum creatinine levels and a rise in proteinuria following the cessation of IS medication. Results: Outcomes were assessed for 45 patients with LN who ceased IS therapy after achieving remission. The patients' median age was 55 years (29-78). The median duration of treatment was 4 years (0.5-14). The LN histology distribution was class V = 24.4%, class IV = 17.8 %, class III = 17.8%, class III + IV = 15.6%, class III + V = 6.7%, class IV + V = 2.2%, and class II + IV and II = 2.2%. At the discontinuation of IS treatment, creatinine levels were elevated in 9/45 (20%) patients. Furthermore, 28.9% of patients relapsed after IS treatment discontinuation. Patients with anti-Smith antibodies (anti-Sm) were observed to have a higher occurrence of relapses, with six patients experiencing flare compared to four patients who remained stable (p = 0.03). Five (38.5%) of the patients with flares had high creatinine levels after IS discontinuation. Conclusions: Most of our patients maintained clinical remission and stable levels of LN parameters after IS treatment discontinuation. Those with a high serum creatinine level, ongoing proteinuria, depleted complement levels, and the presence of anti-Sm antibodies were more likely to experience flares after the discontinuation of IS therapy.
OBJECTIVES: To determine the allelic frequencies and effects of genotypic variations in cytokine gene polymorphisms in a Saudi Arabian population. METHODS: This cross-sectional study involved 41 patients with Primary Sjögren's syndrome (pSS) and 71 healthy controls between October 2018 and May 2019. Single nucleotide polymorphisms genotyping was performed using the SEQUENOM MassARRAY® System, targeting nine polymorphisms in different cytokine genes. Chi-square tests were used to compare the patients and controls. RESULTS: The interleukin-1 beta (IL-1ß) rs1143627 CT (control, 52.7%; patients, 21.2%) and TT + CT (p= 0.003; p=0.033) genotypes were less frequent in patients with pSS than in healthy controls. The C allele in rs10488631 in the interferon regulatory factor 5 (IRF5) gene and the A allele in rs12583006 in the B-cell activating factor (BAFF) gene were associated with an increased risk of pSS development in the patient group. CONCLUSION: The CT genotype at -31 (rs1143627) in the IL-1ß gene was not associated with a high risk of pSS development in the Saudi population, in contrast to what has been verified in other ethnicities. However, the C allele in rs10488631 in IRF-5 and the A allele in rs12583006 in BAFF were associated.
Polymorphism, Single Nucleotide , Sjogren's Syndrome , Humans , Cross-Sectional Studies , Saudi Arabia , Sjogren's Syndrome/genetics , Cytokines/genetics
BACKGROUND: Primary Sjögren's syndrome (pSS) is an autoimmune disease that can cause fatigue and extraglandular manifestations (EGMs). pSS is associated with cytokine network dysregulation, which may be related to the immune-mediated destruction of exocrine glands. OBJECTIVE: We determined cytokine levels and their relationship to EGMs, the European League Against Rheumatism (EULAR) Sjögren's syndrome disease activity index (ESSDAI), and fatigue in Saudi patients with pSS. METHODS: This study was a cross-sectional, single-center study. We included forty-one patients and 71 controls. Serum samples were collected from random healthy people and pSS patients who were followed in the rheumatology and pulmonary clinics of King Saud University Medical City in Riyadh, Saudi Arabia. Levels of the frequently studied cytokines were measured using Luminex xMAP technology. Each ESSDAI score and EGM were recorded, and the Arabic version of the fatigue severity scale (FSS) was applied to assess fatigue. The main outcome measures were cytokine levels in pSS Saudi patients using/not using immune-suppressive medications (ISMs). RESULTS: Thirty-six (87.8%) patients had one or more EGMs, and the mean ESSDAI score was 9.95 ± 7.73. There was a significant decrease in TNFα and IL-21 levels in the pSS group compared to those in the control group (p = 0.034 and p < 0.001, respectively), whereas IL-12 levels were significantly elevated in the pSS group (p = 0.002). Cytokine levels in patients who used ISMs were the same as those in patients who did not use medications. Decreased IL-1ß (p = 0.014), IL-2 (p = 0.035), IL-6 (p = 0.014), and IL-35 (p = 0.010) levels were observed in patients who had EGMs. Patients who had low disease activity exhibited low IL-10 (p = 0.018) and high IFN-α (p = 0.049), IFN-ß (p = 0.049), IL-1ß (p = 0.006), and IL-35 (p = 0.032) levels compared to patients with high disease activity. A negative association between a positive fatigue score and IL-1ß (p = 0.010), IL-2 (p = 0.037), IFN-α (p = 0.025), TNFα (p = 0.030), IL-17 (p = 0.029), IL-12 (p = 0.046), and IL-21 (p = 0.005) levels was found. CONCLUSIONS: Cytokine profiles correlate with EGMs, ESSDAI, and fatigue. Patients with controlled disease activity have a normal cytokine profile that is similar to that of controls.
Reversible cerebral vasoconstriction syndrome (RCVS) typically manifests as a sudden, severe thunderclap headache due to narrowing of the cerebral arteries. Symptoms usually resolve within three months. An imbalance in cerebral vascular tone, an abnormal endothelial function, and a decreased autoregulation of cerebral blood flow are thought to be involved in the pathogenesis of RCVS. However, the precise origin of this condition is not yet fully understood. Symptoms of Raynaud's phenomenon (RP) include vasospasm of arterioles of the digits. The pathophysiology of RP includes interactions between the endothelium, smooth muscle, and autonomic and sensory neurons that innervate arteries to help maintain vasomotor homeostasis. RP may occur before the clinical manifestation of a rheumatic condition. RCVS is rare in patients with autoimmune rheumatic disease. We describe a 54-year-old female who had a history of Raynaud's phenomenon affecting her fingers and toes since the age of 12 years. The patient was diagnosed with RCVS in 2012. She described RCVS precipitants, including the regular use of cannabis, cocaine, and amphetamine and tobacco smoking. In 2021, she presented with oral ulcers, intermittent swallowing difficulties, and Raynaud's phenomenon. Clinical examination revealed early sclerodactyly, and abnormal nail-fold capillaroscopy showed multiple giant capillaries, dilated capillary loops, and areas of capillary hemorrhage with capillary drop-out. The investigation revealed positive ANA, strongly positive SRP antibodies, and Ro60 antibodies. Our case report indicates that there may be a correlation between RCVS and Raynaud's phenomenon, and a potential connection between RCVS and autoimmune rheumatic diseases. Hence, physicians must be aware of the red flags and subtle differences in neurological abnormalities, such as headaches, in patients with autoimmune rheumatic diseases who have an inactive clinical status to improve patient care and outcomes.
BACKGROUND Systemic lupus erythematosus (SLE) is a chronic autoimmune condition often associated with an increased susceptibility to infections. The infections in patients with SLE, primarily involving the skin, respiratory tract, and urinary tract, can significantly complicate disease management. This study aimed to evaluate the occurrence, management, and patient outcomes associated with infections in a group of 74 SLE patients at a single center in Saudi Arabia, spanning a 5-year period. MATERIAL AND METHODS An observational, retrospective study was conducted at the King Khalid University Hospital, Riyadh, Saudi Arabia. Patient medical records from January 2016 to December 2020 were examined. All adult SLE patients (age >14 years, as per hospital policy), confirmed by SLICC criteria, and admitted due to infections (determined by quick Sequential Organ Failure Assessment or qSOFA scores) were included in the study. RESULTS Of the 74 SLE patients studied, 79.7% were administered hydroxychloroquine. A majority (83.8%) were classified as low-risk for sepsis-associated mortality based on qSOFA scores (0-1), a fact noted by 41.9% of rheumatology fellows. The sputum cultures most frequently identified were Klebsiella pneumoniae, yeast, and Haemophilus influenzae (each accounting for 33.3% of cases). Furthermore, 4.1% of patients had extended-spectrum beta-lactamases infections, and 2.7% tested positive for COVID-19. A history of sepsis was more commonly observed among non-survivors (P=0.010). CONCLUSIONS The majority of patients were classified as low-risk for sepsis-associated mortality based on qSOFA scores, with two-thirds prescribed antibiotics within 1 h. The primary causes of death were multiorgan failure and cardiac arrest.
COVID-19 , Lupus Erythematosus, Systemic , Adolescent , Adult , Humans , Hospitals, University , Incidence , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/epidemiology , Retrospective Studies , Saudi Arabia/epidemiology
Rheumatoid arthritis (RA) is a complex, multifactorial disorder with an autoimmune etiology. RA is highly heritable and is associated with both human leucocyte antigen (HLA) and non-HLA genes. We investigated the associations of 33 single nucleotide polymorphisms (SNPs) with RA in the Saudi population. METHODS: This study included 105 patients with RA and an equal number of age- and sex-matched controls. The patients with RA attended outpatient clinics at King Khalid University Hospital in Riyadh, Saudi Arabia. Blood samples were collected, and DNA was extracted using Qiagen kits. Primers were designed for the 33 selected SNPs using the MassEXTEND primers program, and samples were genotyped on the Sequenom MassARRAY iPLEX platform. The allele frequencies and genotypes were determined for each SNP, and the results obtained for the patients were compared to those for the controls. RESULTS: The allele and genotype frequencies of six SNPs were significantly associated with RA: rs1188934, rs10919563, rs3087243, rs1980422, rs10499194, and rs629326. The minor alleles of rs1188934, rs10919563, rs10499194, and rs629326 were protective, with odds ratios of 0.542, 0.597, 0.589, and 0.625, and p-values of 0.002, 0.023, 0.013 and 0.036, respectively. In addition, the heterozygote frequencies of two SNPs (rs6859219 and rs11586238) were significantly higher in the controls than in the patients. CONCLUSIONS: There is considerable heterogeneity in the genetics of RA in different populations, and the SNPs that are associated with RA in some populations are not in others. We studied 33 SNPs and only eight were associated with RA. The remaining SNPs showed no allelic or genotypic associations with RA.
OBJECTIVES: To describe the phenotypic, genetic, and outcome characteristics of large-vessel vasculopathy (LVV) in childhood associated with genetic variants. Additionally, a systematic literature review was conducted to delineate the differences between LVV with and without genetic variants. METHODS: The medical records of all children with LVV seen between January 2000 and September 2022 at our institution were retrospectively reviewed for demographic, clinical and genetic data, and outcomes at the last follow-up visit. In addition, we systematically reviewed the literature for the clinical features and known variants of previously reported cases. RESULTS: Eleven patients with childhood LVV were identified; five (three males) of them had proven genetic variants (two DOCK8variants, one FOXP3, one DiGeorge syndrome, and one ZNF469 variant), while six patients had sporadic childhood LVV. Remarkably, patients with genetic variants were younger and had early-onset disease. However, the diagnosis of LVV was delayed compared to those without genetic variants. All patients with genetic variants were treated with corticosteroids, and three patients required sequential immunosuppressive drugs. Four patients underwent surgical intervention, and one received a haematopoietic stem-cell transplant (HSCT). Three patients achieved clinical remission, and two died. Furthermore, data from 20 previously published cases was extracted from the literature. All patients had inherited disorders. Of those, 14 patients had a genetically proven diagnosis. Most of them are treated with corticosteroids and immunosuppressive drugs, with partial responses. Two patients underwent HSCT. There were four deaths. CONCLUSIONS: This study demonstrates that a variety of inherited disorders may contribute to childhood LVV. Strong genetic evidence and the preponderance of autosomal-recessive inheritance may allow us to propose that monogenic LVV is a distinct entity.
OBJECTIVES: Idiopathic inflammatory myositis (IIM) in Saudi patients has been poorly studied owing to the lack of available data. This study aimed to identify the clinical and laboratory features of patients at a single tertiary care center. METHODS: This retrospective study reviewed the medical records of Prince Sultan Military Medical City, Riyadh, Saudi Arabia to collect clinical and laboratory data between December 2022 and February 2017 as follows: age at disease onset, gender, follow-up duration and disease duration; clinical symptoms; laboratory result; presence and type of myositis-specific autoantibody or myositis-associated autoantibody; and type of immunosuppression, presence of malignancy, disease course, and outcome. RESULTS: There were 26 patients with a mean age of 36.16±13.48, and 84.6% were women. The most prevalent form of IIM was dermatomyositis (n=16, 61.5%), and the most affected organ was the skin. weakness was observed in 25 patients (96.2%), and dysphagia was the most common alarm sign (n=10, 38.5%). During follow-up, the creatine kinase level was elevated at the beginning of the disease and then decreased following treatment, with a mean of 277.73 IU/L. Of the total patients, 17 (68%) were positive for anti-nuclear antibody and 5 (19.2%) were positive for anti-Jo-1. CONCLUSION: In our patients, dermatomyositis was the most common form of myositis, and skin manifestations were the most prevalent clinical characteristics. None of the patients developed a malignancy or died.
Dermatomyositis , Myositis , Neoplasms , Humans , Female , Male , Retrospective Studies , Dermatomyositis/diagnosis , Dermatomyositis/epidemiology , Saudi Arabia/epidemiology , Myositis/diagnosis , Myositis/epidemiology , Autoantibodies
BACKGROUND: Transepidermal clearance of altered collagen and excessive excretion of keratin are characteristics of a rare cutaneous disorder known as reactive perforating collagenosis (RPC). There are different forms of RPC; however, the acquired form is the most prevalent and inherited. Reactive perforating collagenosis is rarely described in autoimmune rheumatic diseases; instead, it is typically linked to systemic conditions such as renal failure or hepatic disease. METHODS: A 31-year-old Saudi female patient who was initially diagnosed with undifferentiated connective tissue disease. She developed RPC with a severe diffuse itchy skin rash with numerous papules and nodules with central hyperkeratotic plugs over the lower limb, upper limb, and face. RESULTS: The patient tested positive for antinuclear antibody; however, a year later, patient developed Raynaud's phenomenon, oral and nasal ulcers, malar rash, fatigue, and lupus rash around her eyes, and systemic lupus erythematosus was diagnosed clinically. The patient was treated for reactive perforating collagenosis with systemic antihistamines (diphenhydramine 50 mg orally twice daily), topical steroid cream (betamethasone dipropionate cream), and oral isotretinoin (20 mg daily). The patient was advised to undergo phototherapy. A year later, she presented with symptoms of systemic lupus erythematosus and started taking oral hydroxychloroquine 200 mg twice daily for systemic lupus erythematosus. The patient is listed on follow-up. CONCLUSION: Variable skin rash can mimic systemic lupus erythematosus and vasculitis. Therefore, reactive perforating collagenosis is a skin condition that requires high clinical suspension for diagnosis, and it might be challenging to determine whether it is an association or a complication. Furthermore, the timing of the skin biopsy may be crucial for the diagnosis of reactive perforating collagenosis.
Exanthema , Lupus Erythematosus, Systemic , Female , Humans , Adult , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis
Background: In the face of the contemporary COVID-19 pandemic, health service providers have emerged as the most at-risk individuals who are likely to contract the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Aim: To measure the prevalence of fibromyalgia (FM) during COVID outbreak among health workers in Saudi Arabia using FiRST and LFESSQ tool. Methods: The study employed a cross-sectional methodology to explore the prevalence of Fibromyalgia among health workers at different health care settings in Saudi Arabia. The assessment of the prevalence of fibromyalgia among health worker was determined by using the Fibromyalgia Rapid Screening Tool (FiRST) and London Fibromyalgia Epidemiological Study Screening Questionnaire (LFESSQ) questionnaires. Descriptive statistics were used to summarize the data. Results: The sample size included 992 participants. The prevalence of fibromyalgia using FiRST and LFESSQ was 12.6 and 19.8%, respectively. In this study, the prevalence of fibromyalgia was higher in females when compared to males. Most of the respondents have Vitamin D deficiency. The relationship of fibromyalgia was significantly associated with the participants who worked during an outbreak, who covered COVID-19 inpatient, covered in-hospital on call and in area quarantine. Conclusion: The study's findings demonstrate that the prevalence of Fibromyalgia among health service providers during the current COVID-19 pandemic is considerably higher and that there are potential interventions that may be employed to mitigate the prevalence of the infection during the COVID-19 crisis.
COVID-19 , Fibromyalgia , Cross-Sectional Studies , Female , Fibromyalgia/diagnosis , Health Personnel , Humans , Male , Pandemics , SARS-CoV-2 , Saudi Arabia/epidemiology
OBJECTIVES: To describe primary Sjögren's syndrome (pSS) cohort in Saudi Arabiain view in of clinical/serological/histopathological phentotype, and, diagnostic delay. METHODS: A cross-sectional study conducted between October 2018 and May 2019. Diagnostic delay was calculated from symptoms onset to clinical diagnosis. The European League Against Rheumatism (EULAR) Sjögren's Syndrome Disease Activity Index (ESSDAI) and EULAR Sjogren's Syndrome Patient Reported Index (ESSPRI) were calculated. RESULTS: Forty-one patients were included in the study. There were predominantly females (78%) with a mean (±SD) age of 58.76±12.7 and disease duration of 4.6±2.28 years. The mean diagnostic delay was 2.2±2.4 (range 1-11) years. Minor salivary gland biopsy was performed on 38 (92.7%) patients with a mean focus score of 2.3± 1.2 points. Interstitial lung disease and arthritis were the most common extra-glandular manifestations (EGM) affecting 27 (65.9%) patients for both. The mean ESSDAI was 9.95±7.73 and ESSPRI was 5.17±2.4. CONCLUSION: Saudi primary Sjogren's syndrome patients have a high prevalence of EGM predominantly arthritis and ILD. The diagnostic delay is variable in our cohort.
Delayed Diagnosis , Sjogren's Syndrome , Cross-Sectional Studies , Female , Humans , Phenotype , Saudi Arabia/epidemiology , Severity of Illness Index , Sjogren's Syndrome/diagnosis , Sjogren's Syndrome/epidemiology
BACKGROUND: Fatigue is a prevalent symptom affecting primary Sjögren's syndrome (pSS) patients. The purpose of this study is to determine the prevalence of fatigue in Saudi pSS patients and its correlation with disease features and outcome measures using a validated tool. METHODS: This is a cross-sectional study evaluating fatigue in pSS using the Arabic version of the fatigue severity scale (FSS). The EULAR Sjögren's syndrome disease activity index (ESSDAI) and EULAR Sjögren's syndrome patient reported index (ESSPRI) were calculated. RESULTS: Forty-one patients met the sample criteria and were involved in the final report. There were predominantly females (78%) with a mean (±SD) age and disease duration of 58.76±12.7 and 4.6±2.28 years, respectively. Based on the FSS, 18 (43.9%) patients had a positive test with a mean score of 5.43±0.76. The mean ESSDAI was 9.95±7.73, while the mean EESPRI was 5.17±2.4 with individual component scores were dryness (5.23±2.62), fatigue (5.4±2.88), and pain (4.88±3.31). The FSS had a significant correlation with PGA (r=0.559; p<0.001), PhGA (r=0.671; p<0.001), ESSDAI (r=0.402; p=0.01), ESSPRI fatigue component (r=0.0.621; p<0.001), ESSPRI pain component (r=0.558; p<0.001), and missed significance for the ESSPRI dryness component (r=0.289; p=0.071). There was no correlation between the total ESSPRI score and presence of fatigue (r=-0.261; p=0.104) nor the FSS score (r=-0.136; p=0.409). CONCLUSION: Fatigue is prevalent in Saudi pSS patients. FSS correlated with ESSDAI and ESSPRI components but not its total score signaling other unmeasured factors contributing to fatigue development.
INTRODUCTION: Systemic lupus erythematosus (SLE) is a multi-organ inflammatory disease associated with autoimmune diseases. The aim of the study is to assessed the frequency of celiac disease (CD) in adults and children with SLE (aSLE and cSLE, respectively) and compare them with rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) patients; the study also explored the clinical impact of CD serologic markers on SLE disease activity and severity. METHODS: This was a cross-sectional study. Patients with SLE who had regular follow-up in rheumatology clinics were evaluated for laboratory and clinical variables using serology and the SLE Disease Activity Index (SLEDAI). To assess the occurrence of CD serology in cSLE and aSLE and the clinical impact of CD serologic markers on SLE, patients were tested for antigliadin (AGA), anti-endomysium (EmA) and anti-tissue transglutaminase (tTG) antibodies. RA and JIA patients were included for comparison. Duodenal biopsy was conducted in patients who exhibited CD markers. RESULTS: The CD marker was found in 29 (11.6%) of the 250 patients. AGA was present in seven aSLE patients and tTG in two (11.1%). Among cSLE patients, the autoantibody was present in 17.6% (AGA in four, tTG in two, and EmA in three). For RA patients, five had AGA and tTG and one had EmA, with an overall positivity of 9.7%. Five JIA patients had AGA (four with EmA and five with tTG) with overall positivity of 10.9%; the serum IgA level was normal in all patients except one. Duodenal endoscopic biopsy was performed in patients with positive CD markers (two declined). Histologic confirmation of CD was reported in one RA and one JIA patient but in none of the SLE patients. There was no correlation between the presence of CD markers and autoantibodies in SLE. CONCLUSION: CD antibodies did not influence SLE activity. Thus, SLE patients may not need to be screened for CD antibodies.
Dermatomyositis (DM) is an idiopathic inflammatory condition characterized by myositis and variable skin manifestation. The existence of myositis specific autoantibodies usually manifests with varying degrees of skin or muscle inflammations. The condition has a well-established association with most clinical phenotypes, and these autoantibodies are useful in informing the diagnosis, management and prognosis of the disease. DM-specific autoantibodies include anti-MDA5, anti-NXP2, anti-SAE, anti-Mi-2, anti-ARS, anti-TIF1-gamma. Anti-Mi-2 antibodies are widely associated with DM cases that exhibit mainly cutaneous symptoms, such as cuticular overgrowths, Gottron's papules while being less susceptible to complications like interstitial lung disease or malignancy. The most distinct clinical features of patients with anti-SAE antibodies are their high prevalence of dysphagia and cutaneous manifestations that antecede the development of myopathies. In addition, DM patients with positive anti-PL-7 antibodies tend to have milder myositis characterized by low levels of creatine kinase as compared to patients with positive anti-Jo-1 antibodies. The anti-NXP2 antibodies are associated with transcriptional regulation and production of various proteins targeted by other DM antibodies, while anti- TIF1-γ. facilitates the transcription of deoxyribonucleic acids and regulates the growth and subsequent differentiation of body cells by controlling the signaling of TGF-ß. The present review targets DM specific autoantibodies, considering their association, significance, and clinical presentation.
