Systemic lupus erythematosus (SLE) is a multi-system, autoimmune disorder of unknown cause, characterized by the production of autoantibodies and wide ranging spectrum of clinical manifestations. SLE can involve any organ system of the body with constitutional symptoms, including musculoskeletal, skin, renal, neuropsychiatric, cardiovascular, respiratory and gastrointestinal system. American College of Rheumatology classifications criteria for SLE can be helpful when establishing the diagnosis of SLE. However, these criteria would not do for physicians to give a diagnosis of SLE because these were designed for classification for research purpose and not for diagnosis. The diagnosis of SLE remains largely clinical. Thus, increasing awareness of the clinical manifestations could lead to earlier diagnosis. The clinical manifestations and diagnosis of SLE are covered in this review.
Autoantibodies ; Lupus Erythematosus, Systemic ; Rheumatology ; Skin

Gout is the most common form of inflammatory arthritis that affects mainly middle-aged men, and there is clear evidence of an association between hyperuricemia and the risk for gout. Increasing prevalence of gout and hyperuricemia has been reported in many countries. The prevalence of gout and hyperuricemia are constantly increasing in Korea with the patients at risk for developing a variety of comorbidities. Although there have been studies on the association between gout or serum uric acid level and several neurodegenerative diseases, cancer, and cardiovascular mortality, the causal relationship between gout and these comorbidities are still unclear. The associations of substantial economic burden with hyperuricemia, gout attack, and suboptimal treatment are well known. Gout is a disease that requires lifelong management including lifestyle modification. However, gout is poorly managed worldwide although effective urate-lowering drugs exist. In this review, we addressed epidemiological studies and treatment-related problems in the Korean population with gout or hyperuricemia to obtain the best clinical outcomes and reduce their medical burden.

Calcium pyrophosphate dihydrate (CPPD)crystal deposition disease is one of the most common causes of arthralgia in elderly.The acute form (pseudogout) may present as acute monoarticular or polyarticular arthritis.It is often accompanied by high fever and sometimes simulates acute infectious condition.The knee is the joint most frequently affected by pseudogout but other sites such as wrist,shoulder,ankle,elbow and hands may be affected.A few cases involving cervical and lumbar spine mistaken for CNS infection have also been described in foreign countries.We report here a case of CPPD crystal deposition disease mimicking meningitis.
Arthralgia ; Calcium Pyrophosphate* ; Calcium* ; Chondrocalcinosis ; Fever ; Hand ; Joints ; Knee ; Meningitis ; Spine

Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding alpha-defensin-1 in samples from Korean individuals with Behcet's disease (BD) compared to healthy controls (HC). We recruited 55 BD patients and 35 HC. A duplex Taqman(R) real-time PCR assay was used to assess CN. Most samples (31.1%) had a CN of 5 with a mean CN of 5.4 +/- 0.2. There was no significant difference in the CN of the DEFA1 gene between BD patients and HC. A high DEFA1 gene CN was significantly associated with intestinal involvement in BD patients. Variable DEFA1 gene CNs were observed in both BD patients and HC and a high DEFA1 gene CN may be associated with susceptibility to intestinal involvement in BD.
Adult ; Behcet Syndrome/*complications/*genetics ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; Genotype ; Humans ; Intestinal Diseases/*etiology/*genetics ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction ; alpha-Defensins/*genetics

Relapsing polychondritis is a rare autoimmune disease involving the cartilaginous structures of the whole body. Its diagnosis can be difficult when the typical clinical features such as auricular chondritis are absent. Here, we report on a case of a 51-year-old female who presented with cough, dyspnea, and polyarthritis. Chest computed tomography showed the diffuse involvement of tracheobronchial cartilage. According to Damiani's criteria, she was diagnosed as relapsing polychondritis even though there was no unique involvement of auricular cartilage, and high dose steroid and immunosuppressive therapy were then started. This case indicated that patients who have tracheobronchial cartilage involvement without definite auricular chondritis should be considered for relapsing polychondritis as a differential diagnosis.
Arthritis ; Autoimmune Diseases ; Cartilage ; Cough ; Diagnosis ; Diagnosis, Differential ; Dyspnea ; Ear Cartilage ; Female ; Humans ; Middle Aged ; Polychondritis, Relapsing* ; Thorax

High-mobility group box 1 (HMGB1) protein has been demonstrated to play an important role in chronic inflammatory diseases including rheumatoid arthritis, and systemic lupus erythematosus. This study investigated the association between extracellular HMGB1 expression and disease activity, and clinical features of Behcet's disease (BD). Extracellular HMGB1 expression in the sera of 42 BD patients was measured and was compared to that of 22 age- and sex-matched healthy controls. HMGB1 expression was significantly increased in BD patients compared to healthy controls (78.70 +/- 20.22 vs 10.79 +/- 1.90 ng/mL, P = 0.002). In addition, HMGB1 expression was significantly elevated in BD patients with intestinal involvement compared to those without (179.61 +/- 67.95 vs 61.89 +/- 19.81 ng/mL, P = 0.04). No significant association was observed between HMGB1 concentration and other clinical manifestations, or disease activity. It is suggested that extracellular HMGB1 may play an important role in the pathogenesis of BD.
Adult ; Aged ; Behcet Syndrome/genetics/*metabolism/pathology ; Extracellular Space/metabolism ; Female ; HMGB1 Protein/genetics/*metabolism ; Humans ; Inflammation ; Intestinal Diseases/blood/genetics ; Male ; Middle Aged ; Young Adult

OBJECTIVE: This cross-sectional study aimed to investigate the association between rheumatoid factor (RF) positivity and bone mineral density (BMD) in male Korean subjects without any history of joint disease. METHODS: Of 84,344 males who had undergone a comprehensive health checkup program in 2012, 1,390 male health examinees were recruited, whose BMD and RF results were available. A RF titer ≥20 IU/mL was considered positive. BMD was measured at lumbar spine (L1~L4) or hip (femoral neck and total hip) by dual-energy X-ray absorptiometry. RESULTS: The association between RF positivity and BMD was assessed by multiple linear regression analysis. The mean age was 52.7±10.9 years (range 19~88 years), and RF was detected in 64 subjects (4.6%). Demographics and laboratory data were not different between RF-positive and -negative subjects except hepatitis B surface antigen (HBsAg), which was more frequently seen in RF-positive subjects (15.6% vs. 4.3%, p=0.001). RF-positive subjects had significantly lower BMD compared to RF-negative subjects in lumbar spine but not in total hip regardless of the existence of HBsAg (1.17±0.16 g/cm2 vs. 1.10±0.18 g/cm2, p=0.002 in total subjects; 1.17±0.16 g/cm2 vs. 1.10±0.18 g/cm2, p=0.004 in HBsAg-negative subjects). After adjusting for multiple confounders, RF positivity was negatively associated with lumbar spine BMD (B=−0.088 and standard error=0.035, p=0.011). CONCLUSION: Our results show that the presence of RF could have an unfavorable impact on bone density in apparently normal males. Additional studies to elucidate the osteoimmunological mechanism of rheumatoid factor are warranted.
Absorptiometry, Photon ; Arthritis* ; Bone Density ; Cross-Sectional Studies ; Demography ; Hepatitis B Surface Antigens ; Hip ; Humans ; Joint Diseases ; Linear Models ; Male* ; Men's Health ; Neck ; Rheumatoid Factor* ; Spine

Inadequate apoptosis contributes to synovial hyperplasia in rheumatoid arthritis (RA). Recent study shows that low expression of Puma might be partially responsible for the decreased apoptosis of fibroblast-like synoviocytes (FLS). Slug, a highly conserved zinc finger transcriptional repressor, is known to antagonize apoptosis of hematopoietic progenitor cells by repressing Puma transactivation. In this study, we examined the expression and function of Slug in RA FLS. Slug mRNA expression was measured in the synovial tissue (ST) and FLS obtained from RA and osteoarthritis patients. Slug and Puma mRNA expression in FLS by apoptotic stimuli were measured by real-time PCR analysis. FLS were transfected with control siRNA or Slug siRNA. Apoptosis was quantified by trypan blue exclusion, DNA fragmentation and caspase-3 assay. RA ST expressed higher level of Slug mRNA compared with osteoarthritis ST. Slug was significantly induced by hydrogen peroxide (H2O2) but not by exogenous p53 in RA FLS. Puma induction by H2O2 stimulation was significantly higher in Slug siRNA-transfected FLS compared with control siRNA-transfected FLS. After H2O2 stimulation, viable cell number was significantly lower in Slug siRNA-transfected FLS compared with control siRNA-transfected FLS. Apoptosis enhancing effect of Slug siRNA was further confirmed by ELISA that detects cytoplasmic histone-associated DNA fragments and caspase-3 assay. These data demonstrate that Slug is overexpressed in RA ST and that suppression of Slug gene facilitates apoptosis of FLS by increasing Puma transactivation. Slug may therefore represent a potential therapeutic target in RA.
Apoptosis/*drug effects/genetics ; Apoptosis Regulatory Proteins/*genetics/metabolism ; Arthritis, Rheumatoid/genetics/metabolism/*pathology ; Cells, Cultured ; Drug Evaluation, Preclinical ; Fibroblasts/drug effects/metabolism/pathology ; Humans ; Hydrogen Peroxide/*pharmacology ; Proto-Oncogene Proteins/*genetics/metabolism ; RNA, Small Interfering/*pharmacology ; Synovial Membrane/cytology/drug effects/metabolism/*pathology ; Transcription Factors/*antagonists & inhibitors/genetics ; Transcriptional Activation/drug effects ; Transfection

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder with variable clinical features. The interleukin (IL)-1 receptor antagonist anakinra has been proposed as an alternative effective treatment in refractory AOSD. We report, for the first time in Korea, two cases of refractory AOSD in which anakinra treatment produced a clinical response. The first patient had frequent clinical flare-ups with fever, sore throat, myalgia, and pleuritic chest pain despite treatment with methotrexate and etanercept. In the second patient, treatments with various immunosuppressive agents failed to control the disease activity. Treatment with anakinra 100 mg/day was initiated in both cases. A complete clinical remission and improvement in the laboratory parameters were observed. The steroid dose was tapered without further clinical flare-ups. Anakinra appears to be an effective alternative treatment modality in patients with AOSD refractory to conventional disease-modifying anti-rheumatic drugs and corticosteroid therapy.
Antirheumatic Agents ; Chest Pain ; Fever ; Humans ; Immunoglobulin G ; Immunosuppressive Agents ; Interleukin 1 Receptor Antagonist Protein ; Interleukins ; Korea ; Methotrexate ; Pharyngitis ; Receptors, Tumor Necrosis Factor ; Still's Disease, Adult-Onset ; Etanercept

Primary adrenal insufficiency is one of the rare clinical manifestations of antiphospholipid antibody syndrome. The pathogenesis is mainly ascribed to the hemorrhagic infarction secondary to thrombosis. We describe a 19-year-old man who developed symptoms of adrenal insufficiency and then was diagnosed of primary antiphospholipid antibody syndrome, which is the first reported case in adult patients in Korea. The possibility of adrenal failure should be considered in the management of antiphospholipid antibody syndrome and also, when primary adrenal insufficiency is accompanied by no definite etiology, the antiphospholipid antibody syndrome should be considered as a possible etiology.
Adult ; Male ; Female ; Humans