Autoimmune Diseases Are Linked to Type IIb Autoimmune Chronic Spontaneous Urticaria

Kolkhir Pavel,Altrichter Sabine,Asero Riccardo,Daschner Alvaro,Ferrer Marta,Giménez-Arnau Ana,Hawro Tomasz,Jakob Thilo,Kinaciyan Tamar,Kromminga Arno,Konstantinou George N,Makris Michael,Metz Martin,S 대한천식알레르기학회 2021 Allergy, Asthma & Immunology Research Vol.13 No.4

Purpose Patients with chronic spontaneous urticaria (CSU) have an increased risk for comorbid autoimmune diseases. In this retrospective multicenter study of CSU patients, we evaluated clinical and laboratory features of CSU associated with a higher risk of comorbid autoimmune diseases. Methods We analyzed records of CSU patients (n = 1,199) for a history or presence of autoimmune diseases. Patients were diagnosed with type IIb autoimmune CSU (aiCSU) if all 3 tests were positive: autologous serum skin test (ASST), basophil histamine release assay (BHRA) and/or basophil activation test (BAT), and IgG autoantibodies against FcεRIα/IgE detected by immunoassay. Results Twenty-eight percent of CSU patients had at least 1 autoimmune disease. The most prevalent autoimmune diseases were Hashimoto's thyroiditis (HT) (≥ 21%) and vitiligo (2%). Two percent of CSU patients had ≥ 2 autoimmune diseases, most frequently HT plus vitiligo. Comorbid autoimmune diseases, in patients with CSU, were associated with female sex, a family history of autoimmune diseases, and higher rates of hypothyroidism and hyperthyroidism (P < 0.001). Presence of autoimmune diseases was linked to aiCSU (P = 0.02). The risks of having autoimmune diseases were 1.7, 2.9 and 3.3 times higher for CSU patients with a positive ASST, BHRA and BAT, respectively. In CSU patients, markers for autoimmune diseases, antinuclear antibodies and/or IgG anti-thyroid antibodies were associated with non-response to omalizumab treatment (P = 0.013). Conclusions In CSU, autoimmune diseases are common and linked to type IIb autoimmune CSU. Our results suggest that physicians assess and monitor all adult patients with CSU for signs and symptoms of common autoimmune diseases, especially HT and vitiligo.

자가면역성 갑상선질환에서의 백반증 및 원형탈모증

서무규,이재태 慶北大學校 醫科大學 1991 慶北醫大誌 Vol.32 No.2

We studied the association of vitiligo, alopecia areata with autoimmune thyroid disease Vitiligo, alopecia areata, vitiligo with alopecia areata were found in 21 out of 283 patients(7.4%) with autoimmune thyroid disease, 6 out of 223 patients(2.7%) with nonautoimmune thyroid disease. These results suggest stron association of vitiligo & alopecia areata, and autoimmune thyroid disease(p<0.01). The prevalence of vitiligo was similar to that of alopecia areata in autoimmune thyroid disease(3.5% vs. 3.2%). Two patients had vitiligo with alopecia areata. Witiligo in autoimmune thyroid disease was most frequently found on leg and alopecia areata in autoimmune thyroid disease was almost found on temporal area of scalp.

한 가족내에서 세대를 걸쳐 발병한 자가면역성 갑상선질환 3예

김병엽,이민영,오인균,김도형,김학찬,김상억,한승혜,신동훈,김은실,김종순 대한내분비학회 2001 Endocrinology and metabolism Vol.16 No.2

According to recent studies, the immunogenetic factors are thought to be account for a part of the etiopathogenesis of autoimmune thyroid disease. In Korea, there was one report on the relationship between HLA DR5, DR8, B13 and autoimmune thyroid disease. There were also several reports on a familial hereditary transmission of autoimmune thyroid disease in other countries but not in Korea. We describe the occurrence of autoimmune thyroid disease that affected three members of a family through three generations. This is the first report on familial hereditary transmission of autoimmune thyroid disease in Korea. We report on an 80-year-old woman who presented with Hashimoto's thyroiditis, her 53-year-old daughter who had Graves' disease, and her 29-year-old grand-daughter who had Graves' disease. In order to identify the immunogenetic influence in these cases, HLA haplotypes & thyroid autoantibody were studied. HLA DRB3*02 was obseved in each of the patents. HLA DQB1*0301, DR11, DQB1*05031 and DR14 were observed in the two cases. However, HLA B13, DR5 and DR8 were not observed. The patients are currently undergoing follow-up using PTU, methimazole and synthyroid medication

Clinical manifestations of autoimmune disease-related non-Hodgkin lymphoma: a Korean single-center, retrospective clinical study

( Young-woo Jeon ),( Jae-ho Yoon ),( Sung-eun Lee ),( Ki-seong Eom ),( Yoo-jin Kim ),( Hee-je Kim ),( Seok Lee ),( Chang-ki Min ),( Jong Wook Lee ),( Woo-sung Min ),( Seok-goo Cho ) 대한내과학회 2016 The Korean Journal of Internal Medicine Vol.31 No.5

Background/Aims: Recently, large cohort studies regarding associations between autoimmune disease and lymphomas have been reported in a few Western coun­tries. However, Asian data concerning autoimmune-related lymphomas are lim­ited. Therefore, we evaluated the clinical characteristics and prognostic factors of patients with autoimmune disease-related non-Hodgkin lymphoma (NHL) in a single center in Korea. Methods: We analyzed the data from 11 patients with autoimmune-related NHL. Patients were categorized into two groups, those with rheumatoid arthritis (RA) and those with non-RA-related NHL. Then patients were re-categorized into a group with methotrexate (MTX) usage and a MTX non-usage group. Histological subtype, MTX duration, autoimmune disease duration, treatment modalities, and other data were collected and analyzed. Results: Our study revealed that older RA patients have a greater likelihood of occurrence of NHL (p = 0.042). We confirmed that MTX duration and cumulative dose of MTX have no significant correlation with autoimmune disease and NHL (p = 0.073). In the management of autoimmune disease-related NHL, all patients were directly treated with systemic chemotherapy instead of employing a wait and watch approach. Overall survival (OS) and progression-free survival (PFS) in all autoimmune disease-related NHL were 100% and 87.5%, with no treatment-re­lated mortality during the 2-year follow-up period of our study. Conclusions: Our study suggests that patients with RA-NHL are characterized by older age at onset compared to those with non-RA-NHL. Also considering of OS and PFS, intensive treatment strategy instead of delayed watchful managements may be required for autoimmune disease-related NHL including of old age group.

A retrospective study of 140 cases positive for antinuclear antibody test

( Sunyoung Jo ),( Seunggi Hong ),( Sungeun Song ),( Kiwoong Ro ),( Eunphil Heo ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.2

Background: Antinuclear antibody(ANA) test is commonly used to screen for autoimmune diseases. Cutaneous manifestations may be first signs in patients with systemic autoimmune disease. Objectives: We investigated the clinical utility of ANA test by reviewing the initial presentations, ANA titer, and final diagnosis. Methods: We reviewed the records of patients presenting to our dermatologic clinic between July 2012 and June 2017. The symptoms and signs at the time of ANA testing, ANA titers, and the final diagnosis were analyzed. Results: Of the included 1694 patients, 139 patients (8.2%) were positive for ANA test. Urticaria (41%) was the most common initial presentation. 25 patients (18.0%) had systemic autoimmune disease. The most common systemic autoimmune disease was Lupus erythematosus (9.3%), followed by Sjogren’s disease (2.2%), Dermatomyositis (0.7%), Behcet’s disease (2.2%) and others. Eighteen patients (72%) of patients with systemic autoimmune disease were initially presented with cutaneous manifestation. These patients were likely to complain of arthralgia (50%), dry eye or dry mouth (39%), and hematologic abnormality (28%) and others. Conclusion: In this study, compared with the patients with low ANA titer(<1:80), those with high ANA titer(≥1:640) were more susceptible to systemic autoimmune disease. But 82% of ANA-positive patients did not have systemic autoimmune disease. ANA serologies has little clinical value in predicting a flare of autoimmune disease.

급성 신손상으로 발현된 미세 변화 신증에 동반된 자가면역 갑상선염

김지수,박치영,신석표,임영민,고은정,김형종 영남대학교 의과대학 2014 Yeungnam University Journal of Medicine Vol.31 No.2

Autoimmune thyroiditis is the most common cause of hypothyroidism in the world. It is characterized clinically by gradual thyroid failure, goiter formation, or both, because of the autoimmune-mediated destruction of the thyroid gland. Renal involvement presenting proteinuria in autoimmune thyroiditis is not uncommon, occurring in 10% to 30% of the cases. Glomerulonephropathy associated with autoimmune thyroiditis, however, is a rare disease. Most reports of autoimmune thyroiditis with glomerulonephropathy have demonstrated a mixed pathological morphology and have been predominantly associated with membranous glomerulopathy. The case of minimal-change disease associated with thyroiditis presenting acute kidney injury is a rare disease that has not been reported in South Korea. Reported herein is the case of a 16-year-old man diagnosed with Hashimoto’s thyroiditis, with minimal-change disease presenting acute kidney injury. He revealed hypothyroidism, proteinuria, and impaired renal function. Renal biopsy showed minimal-change disease and minimal tubular atrophy. The patient was treated with thyroid hormone, and his renal function and proteinuria improved. Therefore, for patients with autoimmune thyroiditis presenting unexplained proteinuria, glomerulonephropathy should be ruled out. Conversely, for patients with glomerulonephropathy and persistent proteinuria despite proper treatment, thyroid function and antibody tests should be performed.

자가면역 물집 피부질환 환자의 삶의 질

문성훈 ( Seong Hun Moon ),권형일 ( Hyoung Il Kwon ),박현철 ( Hyun Chul Park ),김정은 ( Jeong Eun Kim ),고주연 ( Joo Yeon Ko ),노영석 ( Young Suck Ro ) 대한피부과학회 2014 대한피부과학회지 Vol.52 No.6

Department of Dermatology, Hanyang University College of Medicine, Seoul, Korea Background: Autoimmune blistering skin diseases such as pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid and epidermolysis bullosa acquisita substantially affect patients. daily life and psychosocial well-being. Objective: The aim of this study was to evaluate the quality of life (QOL) in patients with autoimmune blistering diseases and to identify the factors that can influence their QOL by comparing them to healthy controls. Methods: Forty patients with autoimmune blistering skin diseases and 40 healthy controls were interviewed using the Korean version of Skindex-29. The study assessed the clinical severity of the disease. Results: The total, symptom, function, and emotion scores of Skindex-29 were significantly higher in patients with autoimmune blistering skin diseases (35.28, 40.78, 30.57, and 36.67, respectively) than in the healthy controls (6.90, 9.38, 5.47, and 6.60, respectively) (p<0.001). Higher disease severity had a negative correlation with QOL in patients with blistering skin diseases, and QOL was lower when patients had low levels of satisfaction with treatment. Conclusion: The results show that autoimmune blistering skin diseases can affect patients’ QOL. In addition, disease severity and low satisfaction with treatment are important factors that reduce QOL. Development of new treatments should improve treatment efficacy and the QOL of patients with autoimmune blistering diseases. (Korean J Dermatol 2014;52(6):402∼409)

Diffuse Systemic Sclerosis in a Patient with Primary Biliary Cirrhosis and Autoimmune Hepatitis Overlap Syndrome: A Case Report

( Hye Sung Han ),( Ga Ram Ahn ),( Hyung Joon Kim ),( Kui Young Park ),( Kapsok Li ),( Seong Jun Seo ) 대한피부과학회 2020 Annals of Dermatology Vol.32 No.1

Systemic sclerosis (SSc) is a chronic systemic disease of unknown etiology characterized by vasculopathy, excessive accumulation of extracellular matrix, and fibrosis of the skin and other internal organs. Although its etiology remains elusive, approximately one third of SSc patients presents with additional autoimmune disease, which suggests that an autoimmune mechanism is a major component of the underlying pathophysiology. On the other hand, primary biliary cirrhosis (PBC) and autoimmune hepatitis (AIH) are two main autoimmune liver diseases. A 41-year-old female previously diagnosed with PBC/AIH overlap syndrome presented with multiple, painful brownish to erythematous firm patches on the hands, arms, axillae, neck, abdomen, and thighs. Laboratory work-up yielded positive results for anti-nuclear antibody, anti-Ro/Sjögren’s-syndrome-related antigen A autoantibodies, and perinuclear anti-neutrophil cytoplasmic antibodies while punch biopsy of her left hand showed characteristics that are consistent with scleroderma. Herein, we report the first case of a patient with diffuse cutaneous SSc and concurrent PBC/AIH overlap syndrome and suggest that this coexistence of multiple autoimmune diseases is not a coincidence but rather that a common autoimmune pathogenesis may exist. (Ann Dermatol 32(1) 69∼73, 2020)

면역글로불린 G4 연관 췌장담도 질환의 최신 지견

이규철,문성훈 대한소화기학회 2020 대한소화기학회지 Vol.75 No.5

Type 1 autoimmune pancreatitis and IgG4-related sclerosing cholangitis (IgG4-SC) are the pancreatobiliary manifestations of IgG4-related disease. IgG4-related disease is a newly named fibroinflammatory condition that is characterized by tumefactive lesions that contain dense lymphoplasmacytic infiltrates rich in IgG4-positive cells and often by elevated serum IgG4 concentrations. IgG4-related pancreatobiliary disease is often disguised as pancreatobiliary malignancies owing to its tumefactive nature and clinical presentations, such as obstructive jaundice. The differentiation of IgG4-SC from primary sclerosing cholangitis is also essential because of the significant differences in treatment responses and prognosis. A timely diagnosis of IgG4-related pancreatobiliary disease can lead clinicians to prescribe adequate glucocorticoid treatment that can reverse the pancreatobiliary duct strictures and obstructive jaundice. On the other hand, the diagnosis of IgG4-related pancreatobiliary disease is sometimes challenging because there is no single diagnostic clinical test. The diagnosis of IgG4-related pancreatobiliary disease rests on fulfilling the diagnostic criteria, including imaging, serology, other organ involvement, histology, and response to steroids. Approximately 50% of patients with IgG4-related pancreatobiliary disease experience relapse, despite IgG4-related pancreatobiliary disease showings a favorable short-term prognosis after glucocorticoid therapy. To reduce the relapse, long maintenance treatment for 3 years may be necessary. The purposes of this review were to emphasize the clinical problem of diagnosing IgG4-related pancreatobiliary disease as well as to highlight the use of the published guidelines for the diagnosis and management of IgG4-related pancreatobiliary disease.

A Graves' Disease Patient Diagnosed as Autoimmune Gastritis with Helicobacter pylori Infection

Yong Hwan Ahn,Kyo Bum Hwang 대한상부위장관ㆍ헬리코박터학회 2022 Korean Journal of Helicobacter Upper Gastrointesti Vol.22 No.4

Autoimmune gastritis (AIG) is a type of atrophic gastritis characterized by destruction of parietal cells in the gastric fundus and body. These changes may be attributable to immune-mediated chronic inflammatory responses. AIG is characterized by extensive atrophy of the gastric body; therefore, endoscopic findings offer useful diagnostic clues. AIG is diagnosed based on serological and histopathological evaluation of endoscopic biopsy specimens; however, this condition may be accompanied by autoimmune diseases including autoimmune thyroid disease (ATD), and the opposite can be suspected. Diagnostic delays and misdiagnosis are common in patients with AIG owing to the nonspecific clinical presentation and accompanying autoimmune diseases. Additionally, confirmation of AIG based on serological atrophy or endoscopic findings is challenging in cases of active Helicobacter pylori (H. pylori) infection. We report a case of Graves’ disease (an ATD) in a patient diagnosed with AIG and concomitant H. pylori-induced gastritis based on the rapid urease and serological test results and endoscopic biopsy findings.