OBJECTIVE: To investigate the clinical and immunological characteristics of systemic lupus erythematosus (SLE) with retinopathy. METHODS: Fifty SLE patients with retinopathy without hypertension and diabetes (retinopathy group) who were hospitalized in the Peking University People's Hospital from January 2009 to July 2022 were screened. Fifty SLE patients without blurred vision during the course of the SLE and without retinopathy in the fundus examinations (non-retinopathy group) matched for sex and age were selected. Their clinical manifestations, laboratory tests and lymphocyte subsets were statistically analyzed. RESULTS: The most common fundus ocular change of the SLE patients with retinopathy was cotton-wool spots (33/50, 66.0%), followed by intraretinal hemorrhage (31/50, 62.0%). Retinopathy could occur at any stage of SLE duration, with a median of 1 year (20 days to 30 years). The proportion of lupus nephritis (72.0% vs. 46.0%, P=0.008) and serositis (58.0% vs. 28.0%, P=0.002) in the retinopathy group were significantly higher than those in the non-retinopathy group. The proportion of neuropsychiatric systemic lupus erythematosus (NPSLE) in the retinopathy group was higher, but there was no significant difference between the two groups. Compared with the non-retinopathy group, the proportion of positive anti-cardiolipin antibody (30.0% vs. 12.0%, P=0.027), the SLEDAI score (median 22.0 vs. 10.5, P < 0.001), erythrocyte sedimentation rate (P < 0.001), C-reactive protein (P=0.019) and twenty-four hours urine total protein level (P=0.026) in the retinopathy group were significantly higher, and the hemoglobin level was significantly lower [(91.64±25.18) g/L vs. (113.96±18.57) g/L, P < 0.001]. The proportion of CD19⁺ B cells in peripheral blood of the patients with SLE retinopathy was significantly increased (P=0.010), the proportion of CD4⁺ T cells was significantly decreased (P=0.025) and the proportion of natural killer (NK) cells was lower (P=0.051) when compared with the non-retinopathy group. CONCLUSION Retinopathy in SLE suggests a higher activity of SLE disease with more frequent hematologic and retinal involvement. It is recommended to perform fundus examination as soon as a patient is diagnosed with SLE. SLE patients with retinopathy may have stronger abnormal proliferation of B cells, and aggressive treatment should be applied to prevent other important organs involvement.
Humans ; Lupus Erythematosus, Systemic ; Lupus Vasculitis, Central Nervous System ; Lupus Nephritis ; Antibodies, Anticardiolipin ; Serositis

BACKGROUND: The objective of this study was to identify the effects of mycophenolate mofetil (MMF) on non-renal manifestations in systemic lupus erythematosus (SLE). METHODS: The study population comprised 439 SLE patients from the Korean Lupus Network registry who were followed up annually and completed the baseline survey and two follow-up visits from 2014 to 2018. Disease activity, laboratory markers, and clinical manifestations including mucocutaneous lesions, arthritis, serositis, neurological disorders, and hematologic/immunologic abnormalities were assessed. All variables by group (MMF and non-MMF) effects with time (baseline, 1st follow-up, and 2nd follow-up) were analyzed by generalized estimation equation. RESULTS: Seventy-two patients were treated with MMF. There was significant difference in frequencies of malar rash, arthritis, renal disorder, and hematologic disorder between MMF and non-MMF groups in total SLE patients. In subgroup analysis of hematologic abnormalities in total patients, frequency of leukopenia was significantly different between the two groups during follow-up (P = 0.001), but frequencies of hemolytic anemia, lymphopenia, and thrombocytopenia were not. In addition, frequencies of leukopenia in patients without lupus nephritis were significantly decreased in MMF group compared to non-MMF group (P = 0.012). CONCLUSION: This study showed that MMF might be a beneficial treatment for hematologic abnormalities, especially leukopenia, in SLE.
Anemia, Hemolytic ; Arthritis ; Biomarkers ; Exanthema ; Follow-Up Studies ; Humans ; Leukopenia ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Lymphopenia ; Nervous System Diseases ; Serositis ; Surveys and Questionnaires ; Thrombocytopenia

PURPOSE: Familial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF. METHODS: Patient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212). RESULTS: No different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p < 0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1–84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p < 0.05, OR: 11 and 95% CI: 0.8–147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms. CONCLUSION: Patients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.
Ambulatory Care Facilities ; Child* ; Colchicine ; Colonoscopy ; Diagnosis ; Endoscopy ; Familial Mediterranean Fever* ; Fever ; Follow-Up Studies ; Gastroenterology ; Gastroscopy ; Humans ; Inflammatory Bowel Diseases ; Odds Ratio ; Pathology ; Serositis ; Synovitis

Autoimmune thyroiditis in the course of other autoimmune diseases such as systemic lupus erythematosus (SLE) is common because these disorders are attributed to the production of autoantibodies against various autoantigens. Beyond this association, autoimmune thyroiditis can occur before, during or after the development of SLE. In this report, we describe a female who presented with facial puffiness, lethargy and progressive abdominal distension. She was diagnosed with autoimmune thyroiditis followed by the diagnosis of SLE complicated by a massive ascites, a rare form of lupus peritonitis, which is sterile ascites that results from severe serositis. Her presentation was complex and posed a diagnostic challenge and dilemma to the physicians involved in her care.
Thyroiditis, Autoimmune ; Lupus Erythematosus, Systemic ; Serositis

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient’s symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.
Colchicine ; Diagnosis ; Exons ; Familial Mediterranean Fever* ; Fever of Unknown Origin* ; Fever* ; Genotype ; Humans ; Immune System ; Korea* ; Mass Screening ; Peritonitis ; Serositis

INTRODUCTION: Hematologic manifestations of Systemic Lupus Erythematosus (SLE) such as hemolytic anemia, leucopenia and thrombocytopenia are among the common causes of morbidity and hospitalization among patients. This is a case report of a patient presenting with refractory cytopenias.
CASE: The  patient  is  a  42-year-old  female,  diagnosed with  SLE,  having  met  the  Systemic  Lupus  Erythematosus  International  Collaboration  Clinics  Criteria  for  diagnosis Persistent  serositis  (pleural  effusion  and  ascites) and worsening of anemia prompted treatment with oral corticosteroid (prednisone 1.0 mg per kg per day) which showed improvement of shortness of breath and  pleural effusion. Cytopenias persisted despite increasing IV pulse steroid to 6.0  mkd  prednisone then further to 13 mkd prednisone.Rituximab given as 1.0 g infusion once every two weeks for two doses which resulted to improvement of anemia, thrombocytopenia and serositis. 
CONCLUSION: Hematologic manifestations may present as life threatening complications of lupus.Most cases are responsive  to  corticosteroid  therapy,however,in a few refractory cases,less used conventional treatment such as rituximab,may provide significant response.

Human ; Female ; Adult ; Serositis ; Prednisone ; Rituximab ; Leukopenia ; Lupus Erythematosus, Systemic ; Thrombocytopenia ; Lupus Erythematosus, Discoid ; Anemia, Hemolytic ; Pleural Effusion ; Adrenal Cortex Hormones ; Dyspnea

Autoimmune thyroiditis in the course of other autoimmune diseases such as systemic lupus erythematosus (SLE) is common because these disorders are attributed to the production of autoantibodies against various autoantigens. Beyond this association, autoimmune thyroiditis can occur before, during or after the development of SLE. In this report, we describe a female who presented with facial puffiness, lethargy and progressive abdominal distension. She was diagnosed with autoimmune thyroiditis followed by the diagnosis of SLE complicated by a massive ascites, a rare form of lupus peritonitis, which is sterile ascites that results from severe serositis. Her presentation was complex and posed a diagnostic challenge and dilemma to the physicians involved in her care.
Thyroiditis, Autoimmune ; Lupus Erythematosus, Systemic ; Serositis

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.
Abdominal Pain ; Adult ; Appendectomy ; Chromosomes, Human, Pair 16 ; Colchicine ; Familial Mediterranean Fever* ; Female ; Fever ; Humans ; Korea ; Laparotomy ; Mediterranean Sea ; Point Mutation ; Pregnancy* ; Serositis ; Vomiting

Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of non-Hodgkin's lymphoma (NHL) and that progresses rapidly and is usually fatal. Because it usually presents with nonspecific symptoms, such as fever, the early diagnosis of IVLBCL is very difficult and it is often misdiagnosed as another disease. Systemic lupus erythematosus (SLE) is an autoimmune disease that affects various organs. The clinical manifestation of SLE ranges from rash and arthritis through anemia and thrombocytopenia to serositis, nephritis, seizures, and psychosis. Thus, it can be easily confused with many other disorders. We report a case of IVLBCL mimicking SLE in the initial diagnosis.
Anemia ; Arthritis ; Autoimmune Diseases ; B-Lymphocytes* ; Diagnosis ; Early Diagnosis ; Exanthema ; Fever ; Lupus Erythematosus, Systemic* ; Lymphoma ; Lymphoma, B-Cell* ; Lymphoma, Non-Hodgkin ; Nephritis ; Psychotic Disorders ; Seizures ; Serositis ; Thrombocytopenia

SYNOPSIS: Cardiac tamponade among systemic lupus erythematosus (SLE) patients is an unusual event. The pericardial effusion may be a consequence of uremia, infections in the pericardium, or the lupus pericarditis itself. We present four atypical cases of cardiac tamponade from pericarditis of connective tissue disease (CTD), all of which were treated with drainage and immunosuppressants. Due to the rarity of this combination, management was a challenge.
CLINICAL PRESENTATION: Four females each sought consult for dyspnea associated with typical manifestations of connective tissue disease such as arthritis, characteristic rashes, serositis, typical laboratory features, and a positive ANA and/or anti-dsDNA. The first three cases fulfilled the criteria for SLE, while the fourth fulfilled the criteria for SLE-dermatomyositis overlap syndrome. Echocardiography was done due to suspicion of pericardial involvement and revealed massive pericardial effusion in tamponade physiology in all cases.
DIAGNOSIS: Cardiac tamponade from serositis due to connective tissue disease [SLE (case 1 to 3) or SLE-dermatomyositis overlap (case 4). Other common etiologies of tamponade such as bacterial, tuberculous, malignant, and uremic pericardial effusion were ruled out by clinical and laboratory tools, including Gram stain and culture, cytology, PCR, and biochemical testing. The pericardial fluid of the first case tested positive for lupus erythematosus (LE) cells, indicative of lupus serositis.
TREATMENT AND OUTCOME: All patients underwent pericardial drainage via tube pericardiostomy. They received high dose glucocorticoids after infectious etiologies for the pericardial effusion were ruled out. The fourth case with the overlap syndrome, however, required more immunosuppressants using azathioprine and methotrexate. Resolution of pericardial effusion was noted with this approach. Three of four were discharged improved, however, the third case suffered from worsening nephritis and pulmonary hemorrhage leading to her demise.
SIGNIFICANCE AND RECOMMENDATIONS: Four cases of cardiac tamponade as a manifestation of connective tissue disease were presented. Literature underlines the rarity of this condition anytime during the course of SLE. Despite this, SLE should be considered as one of the differential diagnosis of cardiac tamponade, especially in patients who manifest with multi-systemic findings. Likewise, massive pericardial effusion should be considered in patients with a connective tissue disease presenting with subtle evidence of pericardial involvement. It requires timely identification and treatment with high dose steroids, after other causes such as infections have been excluded. Immediate drainage through pericardiocentesis or pericardiostomy in combination with immunosuppressants may be life-saving.

Human ; Female ; Adult ; Adolescent ; Pericardiocentesis ; Pericardial Effusion ; Azathioprine ; Cardiac Tamponade ; Methotrexate ; Glucocorticoids ; Serositis ; Dermatomyositis ; Immunosuppressive Agents ; Pericardial Fluid ; Neutrophils ; Lupus Erythematosus, Systemic ;