Polyglandular Autoimmune Syndrome Type 3D : A Case Report

Background: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease characterized by the presence of autoantibodies against cell nuclei and involves many organ systems in the body. The etiopathology of SLE is thought to involve complex and multifactorial interactions between genetic variation and environmental factors. Hyperthyroidism is a disease due to increased thyroid hormone function followed by signs and symptoms that affect the body's metabolic system. Graves' disease is an autoimmune disease characterized by the presence of antibodies to TSHR (TRAb). Several coexisting autoimmune diseases have been classified under different syndromes. Autoimmune Polyglandular Syndrome (PGAS),Case Presentation: A woman, 29 years-old, came to office with complaint of chest palpitation. Patient had history of fever, joint pain, hair loss, and malar rash. Patient had been diagnosed with hyperthyroidism for 4 years and regularly taking propylthiouracil 100 mg and propranolol 10 mg. Titer ANA Test 1/100, Anti ds-DNA 68.08, C3-Complement 93 (N: 83-193), C4-Complement 11.2 (N: 15-57), Free T3 7.79 (N: 1.71-3.71), Free -T4 2.50 (N: 0.70-1.48), TSHs 0.0001 (N: 0.350-4.94), TRAb 3.38 (N: < 1.75). Patient was diagnosed with systemic lupus erythematosus (SLE) and grave's disease. Patient treated with methimazole 10 mg, propranolol 10 mg, myfortic 360 mg, and methylprednisolone 4 mg.Conclusion: Autoimmune Polyendocrine Syndromes (APS) was at first characterized as different endocrine organ diseases related to an immune system disease in a subject. Hence, affiliation between illnesses in APS was noted not to be irregular but in specific combinations in which a few non-endocrine immune system diseases were moreover portion of the disorders.

Polyglandular Autoimmune Syndrome Type II in a Patient Presenting With Hypotension After Acute Illness

Introduction: Polyglandular Autoimmune Syndrome Type II (PAS-2) is a rare disorder characterized by two or more endocrine diseases (primary adrenal insufficiency, autoimmune thyroid disease, type 1 diabetes). Of these, the most common is autoimmune thyropathy, followed by Type 1 Diabetes (1). These endocrinopathies rarely have concurrent onset. This case reports a 22-year-old male, recently recovered from severe pneumonia, who presented to the Emergency Department in acute adrenal crisis and was diagnosed with PAS-2. Case: A 22-year-old male with past medical history of celiac disease presented with abdominal discomfort, nausea, vomiting, fatigue and dizziness for 1–2 weeks. Review of systems included a 20-pound weight loss over several months. Recent history included a hospitalization at another facility three weeks prior for pneumonia and septic shock requiring admission to the ICU and vasopressor treatment. He was not discharged on any medications. He was afebrile with heart rate of 105/min, blood pressure 78/48 mm Hg and BMI of 17.2. Physical exam revealed dry mucous membranes and mild diffuse abdominal tenderness. Skin was warm and dry without hyperpigmentation. Laboratory values included sodium 123 (135 - 146 mmol/L), potassium 6.8 (3.3 - 4.8 mmol/L), glucose 47 (70 - 100 mg/dL), TSH 37.67 (0.3 - 5.00 uIU/mL), and FT4 0.7 (0.7 - 1.7 ng/dL). He was started on fluids and intravenous hydrocortisone. Cortisol and ACTH levels drawn prior to the initiation of steroids resulted at 0.6 (6–20 mcg/dl) and 977 (9 - 46 pg/mL) respectively. Additional labs included: aldosterone < 1 ng/dL, 21 hydroxylase antibody positive, TPO antibody > 1000 (0 - 100 Units) and GAD-65 antibody > 47 IU/mL (<5 IU/mL). Levothyroxine was initiated after hydrocortisone. Blood glucose was elevated during hospitalization, peaking at 227 mg/dL. He was discharged on prednisone, fludrocortisone and levothyroxine. At 2 week follow up, he reported overall improvement in health and was pleased with a weight gain of 12 lbs. Blood glucose remained mildly elevated (123 - 143 mg/dL). Conclusion: The patient had pneumonia and septic shock septic at an outside hospital three weeks prior to presentation. There was no record of steroid administration or suspicion of adrenal insufficiency. We postulate that his severe illness contributed to significant depletion of his adrenal reserve, and therefore he presented to our facility a short time later in overt adrenal crisis. Adrenal crisis is unusual to be the first presentation of PAS-2. It is important to have a high index of suspicion for adrenal insufficiency and PAS-2 in patients presenting with severe illness or hypotension who have known autoimmune disorders. Reference: 1. Kahaly, G.J., Frommer, L. Polyglandular autoimmune syndromes. J Endocrinol Invest. 2018; 41: 91–98.

IMPORTANCE OF ANTIBODIES TO 21-HYDROXYLASE FOR THE DIAGNOSIS, DIFFERENTIAL DIAGNOSIS AND PROGNOSIS OF AUTOIMMUNE CHRONIC PRIMARY ADRENAL INSUFFICIENCY

21-hydroxylase (21-OH) is the main antigen of the adrenal cortex, so the determination of antibodies (Ab) to 21-OH can help in the diagnosis and prognosis of chronic primary adrenal insufficiency (CPAI). Purpose of the study: evaluation of the relevance of Ab to 21-OH for the diagnosis and prediction of autoimmune CPAI. Materials and methods of research: the study consisted of three blocks: 1) assessment of the specificity and sensitivity, as well as the prognostic potential of Ab to 21-OH in patients with polyglandular autoimmune syndrome (APS) – individuals with APS type 1 with and without CPAI (n=106); 2) assessment of the dynamics of the level of Ab to 21-OH – patients with autoimmune CPAI were included (n=41); 3) assessment of the significance of Ab data for the differential diagnosis of various forms of CPAI, including patients with CPAI and APS type 1 exclusion (n=30). The study of Ab to 21-hydroxylase was performed using enzymelinked immunosorbent assay (BioVendor kits, Czech Republic). Results: statistically significant differences were obtained in the frequency of detection of Ab to 21-OH in patients with or without PCNI (p<0,001). The sensitivity of the method was 96%, specificity was 75%, a positive predictive value was 90%, and the negative predictive value was 89%. In 83% of patients, the level of Ab decreased with time (median size decreases – 20,4%/year). An inverse relationship was also found between the level of Ab and the duration of the course of CPAI (R=–0,460, p<0,001). In a group of 30 patients with CPAI and with exclusion of APS type 1, 21 were found to have Ab to 21-OH, only one of them had a monogenic non-autoimmune cause of CPAI (a mutation in the MC2R gene). Monogenic forms of CPAI were found in another 7 patients (mutations were found in the DAX1 and ABCD1 genes), among them an increase in Ab to 21-OH was not detected. Conclusion: determination of Ab to 21-OH is a specific and sensitive method for the diagnosis of autoimmune CPAI. An increase in Ab to 21-OH is a risk marker of autoimmune CPAI development.

Type III autoimmune polyglandular syndrome: association between Type 1 Diabetes mellitus and Hashimoto thyroiditis

Autoimmune polyglandular syndromes (APSS) are associations of two or more endocrine diseases of autoimmune origin that affect between 5-10% of the population. The grouping of these diseases depends on genetic and environmental factors, their different presentations allow the distinction of the subtypes of APS. The objective is to report the case of a patient with type III A polyglandular autoimmune syndrome, characterized by Hashimoto's thyroiditis and type 1 diabetes mellitus associated with hyperprolactinemia and Gilbert's syndrome. The patient began to show the symptoms of the syndrome at the age of 10 progressively. The treatment of each disease is being carried out, with no specific treatment for the syndrome in the literature.

Polyglandular Autoimmune Syndrome Triggered after CTLA-4 and PD-1L Immunotherapy Treatment

Background: CTLA-4 and PD-1L are novel immune checkpoint targets for cancer treatment with specific side effects such as autoimmune diseases. Less frequently, the presence of several autoimmune diseases in the same patient has been described. In this communication, we illustrate the case of a 45-year-old patient with a previous diagnosis of advanced cancer that, after starting treatment with this immunotherapy, developed in the following months autoimmune diabetes, lymphocytic hypophysitis, and a Hashimoto thyroiditis in an abrupt and intense manner that would correspond to an autoimmune polyglandular disease. Discussion: The activation of autoimmunity and associated diseases is increasing in parallel with augmented indication of these immunotherapeutic treatments in cancer patients. A closer follow-up of these patients could be necessary for an optimal approach to this type of pathology. Conclusions: Different autoimmune diseases can converge in the same patient when immunotherapy for cancer is indicated to boost immune response against tumor, caused by altering immune tolerance.

A rare simultaneous manifestation of polyglandular autoimmune syndrome type II

Summary Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Coeliac disease is less commonly associated with polyglandular autoimmune syndrome type II and is more commonly associated with polyglandular autoimmune syndrome type III. Here we describe an interesting case of a young male presenting with simultaneous manifestation of Addison’s disease and Graves, with coincident asymptomatic coeliac disease, as a rare manifestation of polyglandular autoimmune syndrome type II. Learning points: Polyglandular autoimmune syndrome type II is rare, has female predominance, and peak onset in the third and fourth decades of life. Onset of Addison’s disease will usually precede or follow onset of type-I diabetes or autoimmune thyroid disease by several years in this syndrome. Simultaneous onset can occur, as in this case. Coeliac disease is uncommonly associated with this syndrome. Coeliac disease is more commonly associated with polyglandular autoimmune syndrome type III. Coeliac disease should be screened for in patients with associated autoimmune conditions, such as type-I diabetes or autoimmune thyroid disease.