IgG4-related Disease from Head to Toe.

Immunoglobulin G4 (IgG4)-related disease is a relatively recently proposed clinical-pathologic entity that is characterized by fibro-inflammatory lesions rich in IgG4-positive plasma cells and, often but not always, elevated serum IgG4 concentrations. IgG4-related disease was recognized as a systemic disease in 2003, when extrapancreatic manifestations were identified in patients with autoimmune pancreatitis. Since then, the disease has been reported as affecting virtually every organ system and has been identified in the biliary tree, salivary and lacrimal glands, periorbital tissues, lungs, lymph nodes, thyroid gland, kidneys, prostate gland, testicles, breasts, and pituitary gland. Its pathogenesis is poorly understood, but findings are consistent with both an autoimmune and an allergic disorder. Although definitive diagnosis requires histopathologic analysis, imaging plays an important role in demonstrating infiltration and enlargement of involved organs. Because of the systemic nature of the disease, imaging workup of IgG4-related disease should always include whole-body examinations to detect multiorgan involvement. Patients often present with subacute development of a mass in or diffuse enlargement of the affected organ, sometimes mimicking a neoplastic process. In every anatomic location, several inflammatory and neoplastic entities must be considered in the differential diagnosis. Because IgG4-related disease usually shows a marked response to corticosteroid therapy, radiologists should be familiar with its clinical and imaging manifestations to avoid a delay in diagnosis and unnecessary surgical interventions.

Unprecedented complexity of six coexisting autoimmune diseases: A case report.

INTRODUCTION: Autoimmune disorders often exhibit interconnectedness, although encountering multiple autoimmune conditions in a single patient is uncommon. Multiple autoimmune syndrome is characterized by the presence of at least three distinct autoimmune diseases in an individual. This report outlines the case of a middle-aged woman diagnosed with autoimmune thyroiditis, Sjögren's syndrome, scleroderma, autoimmune hepatitis, primary biliary cirrhosis, and antisynthetase syndrome. Additionally, it includes a literature review encompassing multiple autoimmune syndromes involving five or more autoimmune diseases. OBSERVATION: A 57-year-old woman, with no previous medical history, presented with fever, extensive muscle weakness, progressive exertional dyspnea, inflammatory polyarthralgia, dysphagia, and dry mouth. Clinical examination revealed muscular deficit in the scapular and pelvic girdles, distal muscular deficit, synovitis in the wrists, and features indicative of "mechanic's hand". Laboratory examinations showed cytolysis, cholestasis, elevated muscle enzymes, hypergammaglobulinemia and elevated thyroid stimulating hormone. Immunoassays showed positive results for antinuclear antibodies, anti-histidyl-t-RNA synthetase, anti-Sjögren's-syndrome-related antigen A, anti-ribonucleic-acid-polymerase-III-RP155, anti-fibrillarin, anti-mitochondrial, anti-liver/kidney microsomal type 1, anti-glycoprotein 210, and anti-thyroid peroxidase antibodies. Further investigations led to the diagnosis of a multiple autoimmune syndrome involving autoimmune thyroiditis, Sjögren's syndrome, scleroderma, autoimmune hepatitis, primary biliary cirrhosis, and antisynthetase syndrome. The patient received treatment with intravenous immunoglobulins, corticosteroids, azathioprine, and ursodeoxycholic acid, which resulted in favorable clinical and biological outcomes. CONCLUSION: This patient presented with six concurrent distinct autoimmune disorders, categorizing this case as a type two multiple autoimmune syndrome. The identification of antisynthetase syndrome notably distinguishes this case.

A Mendelian randomization study of the effect of serum 25-hydroxyvitamin D levels on autoimmune thyroid disease.

Objective: The influence of vitamin D on autoimmune thyroid disease (AITD) remains a subject of ongoing debate. This study employs Mendelian randomization (MR) to investigate the causal correlations of serum 25-hydroxyvitamin D (25[OH]D) levels with autoimmune thyroiditis (AIT), autoimmune hyperthyroidism (AIH), and Graves disease (GD). Methods: Data on single nucleotide polymorphisms related to serum 25(OH)D levels, AIT, AIH, and GD were sourced from UK Biobank and FinnGen. Inverse variance weighted, MR-Egger, and weighted median were employed to test the exposure-outcome causal relationship. Assessments of horizontal pleiotropy, heterogeneity, and stability were performed using the MR-Egger intercept, Cochran's Q test, and leave-one-out sensitivity analysis, respectively. Results: The results of MR analysis showed increased serum 25(OH)D levels was associated with a reduced risk of AIT (OR 0.499, 95% CI 0.289 to 0.860, p = 0.012) but not causal associated with AIH (OR 0.935, 95% CI 0.695 to 1.256, p = 0.654) and GD (OR 0.813, 95% CI 0.635 to 1.040, p = 0.100). Intercept analysis showed no horizontal pleiotropy (p > 0.05), and Cochran's Q test showed no heterogeneity (p > 0.05). Sensitivity analysis suggested that these results were robust. Conclusion: An increased serum 25(OH)D level is associated with AIT risk reduction but unrelated to AIH and GD. This finding suggests that vitamin D supplementation can be valuable for preventing and treating AIT.

Better Gingival Status in Patients with Comorbidity of Type 1 Diabetes and Thyroiditis in Comparison with Patients with Type 1 Diabetes and No Thyroid Disease-A Preliminary Study.

Periodontal disease has been postulated as one of the chronic complications of diabetes. The prevalence of autoimmune thyroiditis in type 1 diabetes (T1D) is higher. The aim of the study was to determine the association between the presence of thyroiditis and gingival status in adults with T1D. A total of 264 patients, 119 men aged 18-45, diagnosed with T1D were included. For further analysis, the study group was divided into two subgroups, with or without autoimmune thyroiditis. Gingival status was assessed with the use of gingival indices. Patients diagnosed with T1D and thyroiditis presented lower plaque accumulation (p = 0.01) and lower-grade gingivitis (p = 0.02). Approximal Plaque Index (API) in all study groups correlated positively with age (Rs = 0.24; p = 0.0001), body mass index (BMI) (Rs = 0.22; p = 0.0008), hemoglobin A1c (HbA1c) (Rs = 0.18; p = 0.006), high-sensitivity C-Reactive Protein (hsCRP) (Rs = 0.17; p = 0.009), total cholesterol (T-Chol) (Rs = 0.17; p = 0.01) and negatively with thyroid-stimulating hormone (TSH) (Rs = -0.2; p = 0.02). Stepwise multivariate linear regression analysis indicated TSH, BMI and gender as independent predictors of dental plaque accumulation in patients with T1D. Autoimmune thyroiditis was associated with a lower accumulation of dental plaque and better gingival status in patients with T1D.

Chronic autoimmune thyroiditis in industrial areas in Brazil: a 15-year survey.

PURPOSE: To investigate whether there is an increased incidence of chronic autoimmune thyroiditis (CAT) in individuals living in the vicinity of industrial plants that manufacture petroleum byproducts in the state of São Paulo, Brazil. METHODS: Between 1989 and 2004, 6,306 patients of both sexes, from 5 to 78 years old were divided in two groups according to their home location: Group 1: 3,356 residents living near industrial plants that manufacture petroleum byproducts (Region A), and Group 2: 2,950 residents living far from Region A in an area with predominantly steel industries (Region B). For all patients, we measured the serum levels of antithyroglobulin antibody, antithyroperoxidase antibody, triiodothyronine, thyroxine, free thyroxine and thyrostimulating hormone. Sonographic scans of the thyroid gland were also conducted. RESULTS: The proportion of patients with CAT coming from Region A increased from 2.5 % (5 patients with CAT/200 total patients) in 1992 to 57.6 % (106 patients with CAT/184 total patients) in 2001. This striking increase was highly significant (p < 0.001). Similar findings were not observed in Region B. The difference in the number of patients with CAT between 1989 and 2004 coming from Region A and Region B was highly significant (p < 0.001), with 905 CAT patients (83.95 %) in Region A and 173 CAT patients (16.05 %) in Region B. CONCLUSION: Our results showed a striking increase in the incidence of CAT in residents in the vicinity of large industrial plants that manufacture petroleum byproducts compared with residents living near steel industries, which opens the field to new areas of research.

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

BACKGROUND: Mutations in SLC4A4 have been reported to be associated with proximal renal tubular acidosis (RTA), short stature, band keratopathy, cataract, glaucoma, and hypoplastic-type amelogenesis imperfecta. In this study, the authors describe the clinical manifestations, and investigate the molecular etiology, in a patient with RTA. CASE DESCRIPTION: The authors report on a girl with distal RTA who carried a novel homozygous base substitution of 2 consecutive base pair variants (NM_001098484.3:c.808-2A>C and NM_001098484.3:c.808-1G>C) in the SLC4A4 gene. The patient had clinical manifestations of autoimmune thyroiditis and distal RTA, including hypercalciuria, nephrocalcinosis, and nephrolithiasis. In addition to the presence of hypoplastic-type amelogenesis imperfecta, generalized enamel hypomaturation, a feature seen in mice lacking Slc4a4, was also observed in the patient. The basic defect in this patient appeared to be impaired hydrogen ion secretion, leading to an inability to acidify the urine, resulting in alkaline urine (despite a normal serum anion gap), hypokalemic, and hyperchloremic metabolic acidosis. The pulp stones found in the patient may likely be the consequences of a disrupted acid-base homeostatic environment that precipitated mineral deposits. Even with proper treatments for distal RTA, the patient has had frequent recurrences of band keratopathy, pupillary membrane, and cataract. PRACTICAL IMPLICATIONS: This is the first report of distal RTA, autoimmune thyroiditis, tooth agenesis, enamel hypomaturation, and pulp stones associated with an SLC4A4 mutation. It is important for dentists to be aware that amelogenesis imperfecta in patients may be a sign of systemic diseases including RTA, nephrocalcinosis, or nephrolithiasis.

Probable autoimmune causal relationship between periodontitis and Hashimotos thyroidits: a systemic review.

Periodontitis is a multifactorial disease with microbial dental plaque as the initiator of periodontal disease. However, the manifestation and progression of the disease is influenced by a wide variety of determinants and factors. The strongest type of causal relationship is the association of systemic and periodontal disease. Hashimotos thyroiditis has also been considered as one of the causes of periodontal disease. As a matter of fact, on an autoimmune basis, in Hashimotos disease and periodontal disease, we have made an attempt to derive the common mechanisms, with an evidence base. The need for this kind of review was due to the fact that the outcome of periodontal therapy did not give the expected results in patients with Hashimoto's thyroiditis. Hence, a possible link between Hashimotos thyroiditis and periodontitis was considered.

Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child.

Single median maxillary central incisor (SMMCI) syndrome is rare. It is commonly associated with other midline defects. About 50% of children with SMMCI have short stature, associated with isolated growth hormone deficiency or panhypopituitarism.A 6-year-old girl presented to us with worsening convergent squint, slowing linear growth and a suspected pituitary macroadenoma on neuroimaging. The key findings on examination included a disproportionate short stature, SMMCI, congenital abduction defect and pseudohypertrophy of calf muscles with myopathy. The evaluation showed autoimmune thyroiditis with pituitary hyperplasia. Bone age corresponded to 3 years.Three months after initiation of thyroxine, her myopathy resolved, and the hormone profile and neuroimaging were normal. Autoimmune thyroiditis in association with SMMCI is not reported previously. This case study emphasises the importance of growth monitoring and the exclusion of common treatable conditions.

The role of environmental factors in autoimmune thyroiditis.

Environmental factors can play an important role in the development of autoimmune thyroiditis (AT) and other autoimmune diseases. This article reviews the role of heavy metals and infectious agents in AT. Currently, the genes responsible for a metal-induced pathology are known in experimental animals but similar knowledge is lacking in man. Metals such as nickel or mercury induce delayed type T cell hypersensitivity (allergy) which is relatively common, especially in women. T-cell allergy can be studied with the lymphocyte transformation test, LTT-MELISA. It has been found that patients with AT and other autoimmune diseases, such as multiple sclerosis, psoriasis, systemic lupus erythematosus and atopic eczema, show increased lymphocyte reactivity in vitro to inorganic mercury, nickel and other metals compared to healthy controls. The important source of mercury is dental amalgam. Replacement of amalgam in mercury-allergic subjects resulted in improvement of health in about 70% of patients. Several laboratory parameters such as mercury-specific lymphocyte responses in vitro and anti-thyroid autoantibodies were normalized as well. In contrast, no changes in health and laboratory results were observed in mercury-allergic patients who did not have their amalgams replaced. The same was true for non-allergic patients who underwent amalgam replacement. Infectious agents such as Helicobacter pylori (Hp) may cause chronic inflammation and autoimmune reactivity in susceptible subjects. The results of in vitro experiments performed with lymphocytes from Hp infected patients indicate that Hp can cause immunosuppression which might be eliminated by successful eradication therapy. In conclusion, heavy metals and Hp infection may play an important role in AT. Laboratory tests, such as LTT-MELISA, can help to determine the specific etiological agents causing inflammation in individual patients. The treatment of AT and other autoimmune diseases might be improved if such agents are eliminated and any future exposure restricted.

Oral hygiene and periodontal treatment needs in children and adolescents with coeliac disease in Greece.

AIM: To evaluate the factors that influence the oral hygiene and the periodontal treatment needs of children and adolescents with coeliac disease (CD) in Greece. METHODS: The sample consisted of 35 children and adolescents, aged 4-18 years. The evaluation included consideration of the detailed medical history, the duration of CD and of gluten-free diet, the history of oral mucosal findings and a dental questionnaire that included information about oral hygiene habits, symptoms of periodontal disease and dental attendance. The clinical dental examination consisted of the simplified gingival index, the oral hygiene index and the periodontal screening and recording index. STATISTICS: The chi square and logistic regression analysis were performed in order to determine the factors or parameters that had a statistically significant (p ≤ 0.05) impact on oral hygiene and periodontal treatment needs of children and adolescents with CD. RESULTS: The periodontal treatment need of children and adolescents with CD were high and most of them needed treatment of gingivitis (60.01%) and only a few subjects had a healthy periodontium (34.29%). The periodontal treatment need index, the simplified gingival index and the hygiene index correlated statistically significantly with the presence of a coexisting disease, frequency of tooth brushing, bleeding upon brushing and oral malodor. CONCLUSION: The periodontal treatment need of children and adolescents with CD correlated with factors that related to the presence of a second medical condition and to the personal oral hygiene habits. Additionally, the oral hygiene level and periodontal status of children with CD do not have any specific characteristics but they have similarities to the oral hygiene level and periodontal status of the children of the general population.

[Occurrence of diabetic ketoacidosis and autoimmune thyroiditis in a patient treated with pegylated interferon-alpha 2b and ribavirin for chronic hepatitis C].

Combined pegylated interferon and ribavirin therapy for chronic hepatitis C infection cause a wide range of side effects, including flu-like syndrome, hematological abnormalities, cardiovascular symptoms, gastrointestinal symptoms, pulmonary dysfunction, depression, and retinopathy. Interferon-alpha has been shown to be related to the development of various autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis, autoimmune thyroid disease, and type 1 diabetes mellitus (DM). Type 1 DM and thyroid disease respectively develop in 0.08-2.61% and 10-15% of patients treated with combined interferon-alpha and ribavirin for chronic hepatitis C. The coexistence of type 1 DM and autoimmune thyroiditis was rarely reported. We report a case of a 33-year-old female patient with chronic hepatitis C who simultaneously developed diabetic ketoacidosis and autoimmune thyroiditis after treatment with pegylated interferon-alpha 2b and ribavirin.

[Pegylated-interferon alpha plus ribavirin-induced subacute thyroiditis in chronic hepatitis C]. / Tiroiditis subaguda inducida por el tratamiento con interferón alfa pegilado y ribavirina en un caso de hepatitis crónica por virus C.

Chronic hepatitis C virus infection may be associated with extrahepatic manifestations. Thyroid disease related to chronic hepatitis C virus infection has been associated with interferon-alpha treatment. We present the case of a 40-year-old woman with chronic hepatitis C virus infection, who developed subacute thyroiditis during treatment with pegylated interferon-alpha plus ribavirin.

Thyroid dysfunction (TD) among chronic hepatitis C patients with mild and severe hepatic fibrosis.

BACKGROUND: Thyroid dysfunction (TD) is associated to chronic hepatitis C (HCV) and interferon (IFN) therapy. The prevalence of TD at baseline and during IFN therapy among stages of hepatic fibrosis is unknown. GOALS: To examine the frequency of TD at baseline and during Peg-IFN therapy among patients with severe and mild fibrosis. STUDY: 100 patients were treated with Peg-IFN and divided in 2 groups (50 each), according to liver histology; Metavir 0-2 (mild fibrosis) and Metavir 3-4 (severe fibrosis). Baseline TD was defined as history of TD, or abnormal thyroid stimulating hormone (TSH) or antiperoxidase thyroid auto-antibodies (TPO -Ab). Frequency of TD during therapy was defined as TD that required treatment. RESULTS: 20% in the severe fibrosis group and 10% in the mild fibrosis group, had TD at baseline. Most of the cases, 31.4% were female as compared to 6.25% males. During therapy, 24% of patients in the severe fibrosis group, compared to 12% in the mild fibrosis, had TD. Most patients had biochemical hypothyroidism, and 66% were female, compared to 33.33 % male. TPO-Ab predicted TD during therapy in 50% of cases while those negative only had 16.6% TD during IFN therapy. CONCLUSIONS: Patients with severe fibrosis have more TD events at baseline and during treatment with Peg IFN alfa-2a. Patients with more hepatic fibrosis require careful attention to diagnose and manage TD. More research in the immune mechanisms of hepatic fibrosis progression and autoimmune complications is needed.

Hepatitis C virus presumably associated bilateral consecutive anterior ischemic optic neuropathy.

PURPOSE: To report a case of bilateral nonarteritic anterior ischemic optic neuropathy (NAION) in a hepatitis C (HCV) infected patient and demonstrate the relationship between HCV and the development of NAION. METHODS: Case report. RESULTS: A 43-year-old woman with chronic HCV infection and long-term euthyroid autoimmune thyroiditis suddenly lost vision in her right eye, and 6 months later in her left eye, due to NAION. Slightly elevated levels of aminotransferases suggested liver infection activity. Anti-HCV antibody was detected; the genotype of the virus was 1b and the viral RNA level was 1.8 x 106 IU/mL. Liver biopsy proved chronic active hepatitis (Ishak score grading: 7, staging: 2). Except for the elevated levels of antithyroid antibodies and a weak antinuclear factor, the detailed laboratory examinations (thrombophilia, cryoglobulin, anticardiolipin antibodies, co-infections) revealed no other abnormalities; a causative relationship between the underlying chronic hepatitis C and bilateral NAION therefore seems probable. The patient was treated with pegylated interferon and ribavirin for 1 year and a sustained viral remission could be achieved. Her vision has neither improved nor deteriorated further. CONCLUSIONS: This appears to be the first reported case of bilateral NAION presumably caused by HCV infection.

Transient Hypothyroidism and Autoimmune Thyroiditis in Children With Chronic Hepatitis C Treated With Pegylated-interferon-α-2b and Ribavirin.

BACKGROUND: Autoimmune thyroid disease and thyroid dysfunction are common in adults receiving interferon (IFN)-based treatment for chronic hepatitis C (CHC). Few data are available in children with CHC. This study is aimed to evaluate the appearance and timing of thyroid dysfunction and antithyroid autoimmunity in children with CHC treated with pegylated IFN-α-2b and ribavirin (RBV). METHODS: Sixty-one otherwise healthy children with CHC, 3-17 years of age, infected perinatally and treatment naïve, receiving therapy with pegylated IFN-α-2b and RBV and 183 age- and sex-matched controls were included in a multicenter, prospective, case-control study. Thyroid-stimulating hormone, free thyroxine, antithyroglobulin antibodies and antithyroid peroxidase antibodies were assessed before, during and 24 weeks after the end of treatment. RESULTS: From baseline to the end of treatment, subclinical hypothyroidism and autoimmune thyroiditis were diagnosed in 17 of 61 (27.94%) and in 4 of 61 (6.6%) of the children treated, respectively, and in 5 of 183 (2.7%) and in none of the controls (P < 0.0001, relative risk: 10.2, 95% confidence interval: 3.9-26.5; P = 0.03, relative risk: 26.8, 95% confidence interval: 1.5-489.1, respectively). Twenty-four weeks after the end of treatment, subclinical hypothyroidism persisted in only 4 of 61 (6.6%). Autoimmune thyroiditis persisted in 3 of 4 (75%) of the cases. CONCLUSIONS: Subclinical hypothyroidism is common in children with CHC receiving treatment with pegylated IFN-α-2b and RBV, but in most cases is transient. Autoimmune thyroiditis, which is less common, generally persists after treatment completion. Thyroid function should be carefully monitored in patients presenting with antithyroid autoantibodies and thyroid dysfunction during and after pegylated IFN-α-based treatment.

[Clinical and laboratory aspects of the phenomenon of macroprolactinemia].

The question of the clinical importance of high-molecular prolactin forms is stressed in modern scientific literature on the problem of hyperprolactinemia. About 25% of all cases of hyperprolactinemia have been associated with the phenomenon of macroprolactinemia. This is most typical of patients with mild or moderate increase in prolactin level. There is no consensus on the therapeutic tactics in these patients. It should be discussed whether macroprolactin measurements should be done in all cases of high total prolactin level in order to prevent hyperdiagnostics and unnecessary additional laboratory tests and therapeutic intervention.

Reversible and unilateral corticospinal tract disease secondary to autoimmune free-T3-thyrotoxicosis.

68-year-old female patient with no significant medical history presents with a 3-month history of progressive neurological symptoms, which began with left eye ptosis, blurred vision and non-painful jaw discomfort, followed by left spastic weakness and hyper-reflexia with positive Babinski and Hoffman signs. An elevated T3 level, a positive peroxidase and an antigraves antibody level led to an ultrasound, which confirmed a sub acute-chronic autoimmune thyroiditis. A nerve conduction studies/electromyogram showed normal motor and sensory velocity conduction with a small amplitude compound motor action potential, indicative of likely axonal damage. Following treatment with carbimazole, the neurological symptoms greatly improved. The authors concluded that the left pyramidal syndrome was secondary to autoimmune free T3-thyrotoxicosis.

Removal of dental amalgam decreases anti-TPO and anti-Tg autoantibodies in patients with autoimmune thyroiditis.

OBJECTIVES: The impact of dental amalgam removal on the levels of anti-thyroid peroxidase (anti-TPO) and anti-thyroglobulin (anti-Tg) antibodies was studied in patients with autoimmune thyroiditis (AT) with and without mercury allergy. METHODS: Thirty-nine patients with AT were tested by an optimized lymphocyte proliferation test MELISA for allergy (hypersensitivity) to inorganic mercury. Patients were divided into two groups: Group I (n = 12) with no hypersensitivity to mercury and Group II (n = 27) with hypersensitivity to mercury. Amalgam fillings were removed from the oral cavities of 15 patients with hypersensitivity to mercury (Group IIA) and left in place in the remaining 12 patients (Group IIB). The laboratory markers of AT, anti-TPO and anti-Tg autoantibodies, were determined in all groups at the beginning of the study and six months later. RESULTS: Compared to levels at the beginning of the study, only patients with mercury hypersensitivity who underwent amalgam replacement (Group IIA) showed a significant decrease in the levels of both anti-Tg (p=0.001) and anti-TPO (p=0.0007) autoantibodies. The levels of autoantibodies in patients with or without mercury hypersensitivity (Group I and Group IIB) who did not replace amalgam did not change. CONCLUSION: Removal of mercury-containing dental amalgam in patients with mercury hypersensitivity may contribute to successful treatment of autoimmune thyroiditis.

Frequency of alleles associated with celiac disease in patients with autoimmune thyroid disease / Frequência dos alelos associados com a doença celíaca em portadores de doenças autoimunes da tireoide

ABSTRACT Objective To determine the frequency of Human leukocyte antigen alleles and to verify the association of the presence of these alleles with symptoms and other diseases related to celiac disease in patients with autoimmune thyroid diseases. Methods A questionnaire on the symptoms and diseases associated with celiac disease was applied. Genomic deoxyribonucleic acid was extracted by collecting cells from the oral mucosa. The alleles (DQA1*0501; DQB1*0201; DRB1*04) were identified by means of the polymerase chain reaction. Results A total of 110 patients with autoimmune thyroid diseases participated in this study. It was observed that 66.4% of the individuals carried at least one of the alleles assessed and that 58.2% of the individuals were positive for at least one of the DQ2 alleles (DQA1*0501; DQB1*0201) and out of these 18.2% were positive for both DQ2 alleles (DQA1*0501; DQB1*0201). With regard to DQ8 (DRB1*04), 21.8% of the studied population was positive for this allele and 3.6% was positive for both DQ2 (DQA1*0501; DQB1*0201) and DQ8 (DRB1*04). A significant association was found between the presence of the DRB1*04 allele and gastrointestinal symptoms (p=0.02). A significant association of the DRB1*04 allele with type 1 diabetes mellitus (p=0.02) was observed. Conclusion The genetic profiles most commonly associated with celiac disease, such as DQ2 (DQA1*0501; DQB1*0201) and DQ8 (DRB1*04) were around 20.0% prevalent in the studied population. These are risk haplotypes for celiac disease especially when symptoms and diseases related to celiac disease are present. Therefore, it is important to screen patients to investigate a potential diagnosis for celiac disease.

RESUMO Objetivo Determinar a frequência dos alelos do Human leukocyte antigen e verificar a associação da presença desses alelos com sintomas e outras doenças relacionados à doença celíaca em portadores de doenças autoimunes da tireoide. Métodos Aplicou-se um questionário relacionado aos sintomas e doenças associados à doença celíaca. O ácido desoxirribonucleico genômico foi extraído por meio da coleta das células da mucosa bucal. Os alelos (DQA1*0501; DQB1*0201; DRB1*04) foram identificados por meio da reação em cadeia da polimerase. Resultados Participaram deste estudo 110 portadores de doenças autoimunes da tireoide. Observou-se que 66,4% dos indivíduos carregavam pelo menos um dos alelos estudados e que 58,2% dos indivíduos eram positivos para pelo menos um dos alelos DQ2 (DQA1*0501; DQB1*0201) e destes 18,2% foram positivos para ambos alelos do DQ2(DQA1*0501; DQB1*0201). Com relação ao DQ8 (DRB1*04), 21,8% da população estudada eram positivos para esse alelo e 3,6% eram positivos tanto para o DQ2 (DQA1*0501; DQB1*0201) quanto para o DQ8 (DRB1*04). Foi encontrada associação significativa da presença do alelo DRB1*04 com os sintomas gastrointestinais (p=0,02). Houve associação significativa do alelo DRB1*04 com diabetes mellitus tipo 1 (p=0,02). Conclusão O perfil genético mais fortemente associado à doença celíaca, tais como DQ2 (DQA1*0501; DQB1*0201) e DQ8 (DRB1*04) estavam presentes em torno de 20,0% da população estudada, estes são haplótipos de risco para doença celíaca e principalmente na presença de sintomas e doenças relacionadas à doença celíaca. Sendo assim, é importante realizar o rastreamento para investigar um possível diagnóstico para doença celíaca.

Clinical Value of Thyrotropin Receptor Antibodies for the Differential Diagnosis of Interferon Induced Thyroiditis.

OBJECTIVE: The clinical value of thyrotropin receptor antibodies for the differential diagnosis of thyrotoxicosis induced by pegylated interferon-alpha remains unknown. We analyzed the diagnostic accuracy of thyrotropin receptor antibodies in the differential diagnosis of thyrotoxicosis in patients with chronic hepatitis C (CHC) receiving pegylated interferon-alpha plus ribavirin. METHODS: Retrospective analysis of 274 patients with CHC receiving pegylated interferon-alpha plus ribavirin. Interferon-induced thyrotoxicosis was classified according to clinical guidelines as Graves disease, autoimmune and non- autoimmune destructive thyroiditis. RESULTS: 48 (17.5%) patients developed hypothyroidism, 17 (6.2%) thyrotoxicosis (6 non- autoimmune destructive thyroiditis, 8 autoimmune destructive thyroiditis and 3 Graves disease) and 22 "de novo" thyrotropin receptor antibodies (all Graves disease, 2 of the 8 autoimmune destructive thyroiditis and 17 with normal thyroid function). The sensitivity and specificity of thyrotropin receptor antibodies for Graves disease diagnosis in patients with thyrotoxicosis were 100 and 85%, respectively. Patients with destructive thyroiditis developed hypothyroidism in 87.5% of autoimmune cases and in none of those with a non- autoimmune etiology (p<0.001). CONCLUSION: Thyrotropin receptor antibodies determination cannot replace thyroid scintigraphy for the differential diagnosis of thyrotoxicosis in CHC patients treated with pegylated interferon.