The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.
Male ; Humans ; Middle Aged ; Autoantibodies ; Myositis/diagnosis* ; Autoimmune Diseases ; Muscle, Skeletal/pathology* ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use* ; Necrosis/pathology* ; Muscular Diseases/drug therapy*

IgG4-related disease (IgG4-RD) is a rare autoimmune fibrosis disease characterized by elevated serum IgG4 and tissues as well as organs infiltrated with IgG4-positive cells, resulting in swelling and damage.It is currently treated as first-line treatment with glucocorticoids. Autoimmune hemolytic anemia (AIHA) is also a relatively rare disease that caused by autoreactive erythrocyte antibodies. Although both are autoimmune-related diseases, they rarely overlap. The relationship between them is not clear. A case of IgG4-RD combined with AIHA is reported. The patient has shortness of breath, cough, and sputum after physical activity. Physical examination showed appearance of anemia, yellow staining of skin and sclera, palpable neck and multiple swollen lymph nodes. Laboratory examination, bone marrow biopsy, and lymph node biopsy confirmed the diagnosis. Therefore, clinicians should develop ideas and raise awareness of such diseases.
Anemia, Hemolytic, Autoimmune ; diagnosis ; drug therapy ; Autoimmune Diseases ; complications ; Biopsy ; Humans ; Immunoglobulin G ; Immunoglobulin G4-Related Disease ; complications ; diagnosis

PURPOSE: To report a case of lacrimal gland mucosa-associated lymphoid tissue (MALT) lymphoma in a patient with primary Sjögren's syndrome and Behcet's disease. CASE SUMMARY: A 49-year-old female patient with primary Sjögren's syndrome and Behcet's disease presented with a one-year history of painless upper and lower eyelid swelling in her right eye. Lacrimal gland incisional biopsy was performed, and the patient was diagnosed with malignant lymphoma (extranodal marginal zone B cell lymphoma of MALT). No distant metastases were detected on whole-body computed tomography or positron emission tomography, and the patient was treated with Rituximab, Cyclophosphamide, Vincristine, Prednisone (R-CVP) regimen chemotherapy. After 8 consecutive chemotherapy cycles, her eyelids appeared normal externally, and partial regression was found radiologically. CONCLUSIONS: The possibility of MALT lymphoma should be considered as a differential diagnosis if patients with autoimmune diseases such as primary Sjögren's syndrome show eyelid swelling or palpable mass.
Autoimmune Diseases ; Biopsy ; Cyclophosphamide ; Diagnosis, Differential ; Drug Therapy ; Eyelids ; Female ; Humans ; Lacrimal Apparatus* ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Middle Aged ; Neoplasm Metastasis ; Positron-Emission Tomography ; Prednisone ; Rituximab ; Vincristine

Adult ; Anti-Inflammatory Agents ; therapeutic use ; Autoimmune Diseases ; diagnosis ; drug therapy ; Female ; Graves Ophthalmopathy ; diagnosis ; drug therapy ; Humans ; Magnetic Resonance Imaging ; Triamcinolone Acetonide ; therapeutic use ; Young Adult

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome involving defective apoptosis in which the pathways regulating the termination of immune and inflammatory responses are disrupted. Fever, cytopenia, splenomegaly, and hemophagocytosis are typical findings of this syndrome. HLH can be induced by genetic disorders (familial) or secondary causes. While familial HLH is rare, secondary causes include infection, autoimmune disease, and malignancy in adults. Adult onset HLH may be confused with or misdiagnosed as sepsis or macrophage activation syndrome due to similar clinical manifestations and laboratory findings. Consequently, it is difficult to diagnose HLH promptly to initiate adequate immunosuppressive treatment or chemotherapy. A pediatric HLH treatment protocol such as HLH-2004 or multi-agent chemotherapy can be given to adults after adjusting the drug dosage and type. After the initial treatment, refractory or reactivated patients should undergo allogenic hematopoietic stem cell transplantation as soon as possible to improve survival. Clinical trials should determine more suitable therapeutic options for adults with HLH.
Adult* ; Apoptosis ; Autoimmune Diseases ; Clinical Protocols ; Diagnosis* ; Drug Therapy ; Fever ; Hematopoietic Stem Cell Transplantation ; Humans ; Lymphohistiocytosis, Hemophagocytic* ; Macrophage Activation Syndrome ; Sepsis ; Splenomegaly

Posterior reversible leukoencephalopathy syndrome (PRES) is characterized by transient headache, altered mental functioning, seizures, and loss of vision associated with findings of predominantly posterior cerebral lesions on imaging studies. Magnetic resonance imaging typically shows bilateral hyperintensity on T2 weighted imaging and fluid attenuated inversion recovery imaging, predominantly in the parieto-occipital region. The common etiologies of PRES include eclampsia, renal impairment, immunosuppressive treatment, cancer chemotherapy, autoimmune diseases, and hypertension. The prognosis is usually benign when adequate treatment is initiated immediately. Otherwise, delay in diagnosis and treatment may lead to permanent neurological sequelae. We report on the case of a 24-year-old man who presented with the characteristics of PRES with acute carbon monoxide poisoning.
Autoimmune Diseases ; Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Diagnosis ; Drug Therapy ; Eclampsia ; Female ; Headache ; Hypertension ; Leukoencephalopathies* ; Magnetic Resonance Imaging ; Poisoning ; Posterior Leukoencephalopathy Syndrome ; Pregnancy ; Prognosis ; Seizures ; Young Adult

Posterior reversible leukoencephalopathy syndrome (PRES) is characterized by transient headache, altered mental functioning, seizures, and loss of vision associated with findings of predominantly posterior cerebral lesions on imaging studies. Magnetic resonance imaging typically shows bilateral hyperintensity on T2 weighted imaging and fluid attenuated inversion recovery imaging, predominantly in the parieto-occipital region. The common etiologies of PRES include eclampsia, renal impairment, immunosuppressive treatment, cancer chemotherapy, autoimmune diseases, and hypertension. The prognosis is usually benign when adequate treatment is initiated immediately. Otherwise, delay in diagnosis and treatment may lead to permanent neurological sequelae. We report on the case of a 24-year-old man who presented with the characteristics of PRES with acute carbon monoxide poisoning.
Autoimmune Diseases ; Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Diagnosis ; Drug Therapy ; Eclampsia ; Female ; Headache ; Hypertension ; Leukoencephalopathies* ; Magnetic Resonance Imaging ; Poisoning ; Posterior Leukoencephalopathy Syndrome ; Pregnancy ; Prognosis ; Seizures ; Young Adult

To determine the approximate incidence and clinical features of pernicious anemia in a Korean population, we retrospectively analyzed clinical data for patients with pernicious anemia who were diagnosed between 1995 and 2010 at five hospitals in Chungnam province. Ninety-seven patients were enrolled, who accounted for 24% of patients with vitamin B12 deficiency anemia. The approximate annual incidence of pernicious anemia was 0.3 per 100,000. The median age was 66 (range, 32-98) yr, and the male/female ratio was 1.25. Anemia-associated discomfort was the most common symptom (79.4%), followed by gastrointestinal and neurological symptoms (78.4% and 38.1%, respectively). Pancytopenia was found in 36 patients (37.1%), and autoimmune disorders were found in 15 patients (15.5%). Antibody to intrinsic factor was detected in 62 (77.5%) of 80 patients examined, and antibody to parietal cells was detected in 35 (43.2%) of 81 patients examined. Of the 34 patients who underwent tests for Helicobacter pylori, 7 (12.5%) were positive. The anemia-associated and gastrointestinal symptoms resolved completely in all patients after intramuscular injection of cobalamin, whereas neurological symptoms remained in some. In conclusion, pernicious anemia is less frequent in Koreans than in Western populations; however, the clinical features of this disorder in Koreans do not differ from those of Western cases.
Adult ; Aged ; Anemia, Pernicious/complications/*diagnosis/epidemiology ; Asian Continental Ancestry Group ; Autoimmune Diseases/complications/epidemiology ; Female ; Gastrointestinal Diseases/complications/drug therapy/epidemiology ; Helicobacter Infections/diagnosis ; Helicobacter pylori ; Humans ; Isoantibodies/blood ; Male ; Middle Aged ; Nervous System Diseases/complications/epidemiology ; Parietal Cells, Gastric/immunology ; Republic of Korea/epidemiology ; Retrospective Studies ; Vitamin B 12/blood/therapeutic use

IgG4-related systemic diseases are characterized by a diffuse or mass forming inflammatory reaction rich in lymphocytes and IgG4-positive plasma cells (lymphoplasmacytic infiltration), fibrosclerosis of variable organs and obliterative phlebitis. They usually involve various organs including the pancreas, bile duct, gallbladder, salivary gland, retroperitoneum, kidney, lung, and prostate. However, most of them are accompanied by autoimmune pancreatitis, and good response to steroid treatment is one of the hallmarks of this disease. We report a case of an 67-year-old man with IgG4 associated sclerosing cholangitis, who was diagnosed by endoscopic retrograde cholangiopancreatography and successfully treated with steroid therapy.
Aged ; Anti-Inflammatory Agents/therapeutic use ; Autoimmune Diseases/complications/diagnosis ; Bile Ducts, Intrahepatic/pathology/ultrasonography ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis, Sclerosing/complications/*diagnosis/drug therapy ; Common Bile Duct/pathology/ultrasonography ; Humans ; Immunoglobulin G/*blood ; Immunohistochemistry ; Male ; Pancreatitis/complications/diagnosis ; Prednisolone/therapeutic use ; Tomography, X-Ray Computed

Aged ; Autoimmune Diseases ; diagnosis ; Female ; Humans ; Male ; Middle Aged ; Pancreatitis ; diagnosis ; drug therapy ; surgery ; Prednisone ; therapeutic use