Graves' disease, hypoparathyroidism, systemic lupus erythematosus, alopecia, and angioedema: autoimmune polyglandular syndrome variant or coincidence?

Published on Jan 1, 2013in International Journal of Immunopathology and Pharmacology2.209
· DOI :10.1177/039463201302600121
Eugen Melcescu7
Estimated H-index: 7
E.H. Kemp1
Estimated H-index: 1
+ 3 AuthorsChristian A. Koch38
Estimated H-index: 38
Data on coexisting Graves' disease (GD), hypoparathyroidism, and systemic lupus erythematosus (SLE) are limited. The thyroid and parathyroid glands may be extra sensitive to irradiation damage in an underlying autoimmune condition. A 34-year-old black woman presented with tetanic-like cramps, easy skin bruising, fatigue, weight gain, nocturia and back pain. She was previously diagnosed with GD in 2001 and underwent radioiodine therapy (RAI) in 9/01 using 6 mCi. PostRAI (November 2001) she developed hypocalcemia and hypothyroidism (2/02). In 2007, SLE was diagnosed. In October 2009, s-calcium and PTH were still low at 7.1 mg/dl and 9 pg/mL, respectively, although the patient denied symptoms on vitamin D and calcium supplementation. To identify possible autoimmune damage of the parathyroids, we evaluated the presence of activating antibodies to the CaSR and also analyzed the DNA sequence of all 6 translated exons and flanking intronic sequences of her CaSR gene for a functionally significant CaSR mutation b...
#1Roberto Vita (UNIME: University of Messina)H-Index: 19
#2Giovanna Saraceno (UNIME: University of Messina)H-Index: 8
Last. Salvatore Benvenga (UNIME: University of Messina)H-Index: 55
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The purpose of this work is to evaluate if the coffee-associated malabsorption of tablet levothyroxine (l-T4) is reduced by soft gel capsule. We recruited 8 patients with coffee-associated l-T4 malabsorption including one hypothyroid patient. For 6 months, the patients were switched to the capsule maintaining the l-T4 daily dose. Patients took the capsule with water, having coffee 1 h later (proper habit, PH) on days 1–90, or with coffee ≤5 min later (improper habit, IH) on days 91–180. After 6 ...
57 CitationsSource
#1Eugen Melcescu (UMMC: University of Mississippi Medical Center)H-Index: 7
#2Reed B. HoganH-Index: 1
Last. Christian A. KochH-Index: 38
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Serum gastrin levels exceeding 1000 pg/ml (normal, < 100) usually raise the suspicion for a neuroendocrine tumor (NET) that secretes gastrin. Rarely, such elevated gastrin levels are seen in patients with pernicious anemia which most commonly is associated with autoimmune gastritis (AG). AG can occur concomitantly with other autoimmune disorders including lymphocytic colitis (LC). Gastrin stimulates enterochromaffin-like cells which increase histamine secretion. Histamine excess can cause diarrh...
13 CitationsSource
#1Marcello BagnascoH-Index: 37
Last. Salvatore BenvengaH-Index: 55
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Background: Chronic urticaria is a common clinical condition whose etiology, in about 75% of cases, is unknown and is therefore called chronic idiopathic urticaria (CIU). A link between CIU and autoimmune thyroid diseases was proposed several decades ago. Here we review this topic. Summary: Several studies have been performed to determine if and to what degree there is an association between CIU and autoimmune thyroid diseases, particularly autoimmune thyroiditis. Many of these studies were not ...
40 CitationsSource
#1Alessandro Antonelli (UniPi: University of Pisa)H-Index: 1
#2Poupak Fallahi (UniPi: University of Pisa)H-Index: 60
Last. Stefano Bombardieri (UniPi: University of Pisa)H-Index: 84
view all 9 authors...
The association of systemic lupus erythematosus (SLE) and thyroid autoimmunity has been reported by several studies in a wide range of variability. However, from a review of the literature, discrepant results have been reported. The aim of the study was to evaluate the prevalence of clinical and subclinical thyroid disorders in patients with SLE vs sex- and age-matched controls. Thyroid hormones and the presence of antithyroid antibodies were tested and thyroid ultrasonography was performed in 2...
74 CitationsSource
#1E. Helen Kemp (University of Sheffield)H-Index: 30
#2Nikos G. Gavalas (University of Sheffield)H-Index: 9
Last. Anthony P. Weetman (University of Sheffield)H-Index: 90
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Context: Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Hypoparathyroidism occurs in 80% of patients with APS1 and has been suggested to result from an autoimmune reaction against the calcium-sensing receptor (CaSR) in parathyroid cells. Anti-CaSR binding antibodies have previously been detected in patients with APS1. Objective: The aim of this study was to determine whether anti-CaSR antibodies pres...
60 CitationsSource
Background In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated.
183 CitationsSource
The parathyroid glands are an infrequent target for autoimmunity, the exception being autoimmune polyglandular syndrome type 1, in which autoimmune hypoparathyroidism is the rule. Antibodies that are directed against the parathyroid cell surface calcium-sensing receptor (CaSR) have recently been recognized to be present in the serum of patients with autoimmune hypoparathyroidism. In some individuals, these anti-CaSR antibodies have also been shown to produce functional activation of the receptor...
59 CitationsSource
#1Aytekin Guven (Istanbul University)H-Index: 1
#2Serpil Salman (Istanbul University)H-Index: 13
Last. Faruk Alagöl (Istanbul University)H-Index: 15
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Objective The study aimed to investigate the effect of high dose radioactive iodine (RAI) on parathyroid function in patients with differentiated thyroid cancer.
14 CitationsSource
#1Mohammad Alimohammadi (Uppsala University)H-Index: 13
#2Peyman Björklund (Uppsala University Hospital)H-Index: 29
Last. Olle Kämpe (Uppsala University Hospital)H-Index: 62
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Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients with APS-1, the autoantigen responsible for hypoparathyroidism, a hallmark of APS-1 and its most common autoimmune endocrinopathy, has not yet been identified. Methods We performed immunoscreening of a...
218 CitationsSource
Purpose of reviewTo provide an updated list of genetic and environmental causative factors of autoimmune thyroid disease, and report about the recent discoveries concerning their interaction in the pathogenesis of thyroid autoimmunity.Recent findingsAlthough significant discoveries have been made on
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Thyroid gland is one of the key organs regulating the metabolism of carbohydrates, proteins and fats. Its primary function is connected with increase of the metabolic conversion of the body. Skin lesions are often one of the first symptoms of hypothyroidism. In a 71-year-old patient, skin lesions in the form of thickened areas with severe hyperkeratosis first appeared 12 years before. Eight years before, the patient was diagnosed with hypothyroidism of unknown cause. Upon admission, lesions were...
#1Hanna Borysewicz-Sańczyk (UMB: Medical University of Białystok)H-Index: 5
#2Beata Sawicka (UMB: Medical University of Białystok)H-Index: 7
Last. Artur Bossowski (UMB: Medical University of Białystok)H-Index: 20
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Objectives Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, t...
#1Shiyuan Tian (JLU: Jilin University)
#2Baofeng Xu (JLU: Jilin University)H-Index: 8
Last. Rui Liu (JLU: Jilin University)H-Index: 2
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RATIONALE: Polyglandular autoimmune syndromes (PAS) are a heterogeneous group of rare diseases characterized by the association of at least 2 organ-specific autoimmune disorders, concerning both the endocrine and nonendocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune conditions (other than Addison disease), and is divided into 4 subtypes. We describe a patient with Hashimoto thyroiditis, adult-onset Still disease, alopecia, vasculitis, anti...
#1Tomoyo Mifune-Morioka (Okayama University)
#2Haruhito A. Uchida (Okayama University)H-Index: 15
Last. Jun WadaH-Index: 63
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Eight years prior to her present admission, a 61-year-old Japanese woman was diagnosed with autoimmune hepatitis, slowly progressive insulin-dependent diabetes mellitus, and chronic thyroiditis; she had been treated with oral prednisolone (PSL). After she suddenly discontinued PSL, she newly developed systemic lupus erythematosus. A combination therapy of oral PSL and intravenous cyclophosphamide resulted in remission. She was finally diagnosed with autoimmune polyglandular syndrome (APS) type 3...
#1Christian A KochH-Index: 13
#2Siegfried Krabbe (University of Greifswald)H-Index: 3
Last. Bernd HehmkeH-Index: 1
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The immune system is closely intertwined with the endocrine system. Many effects of medications used for various clinical endocrine conditions such as the metabolic syndrome, hypercholesterolemia, diabetes mellitus, hypertension, Graves’ disease and others also have an impact on the immune system. Some drugs including statins, metformin, angiotensin converting enzyme and proprotein-convertase-subtilisin-kexin type-9 (PCSK9) inhibitors and sex hormones are known to have immunomodulatory propertie...
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#1Sriram Gubbi (NIH: National Institutes of Health)H-Index: 9
#2Fady Hannah-Shmouni (NIH: National Institutes of Health)H-Index: 14
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The pituitary gland and the hypothalamus can be affected by autoimmune-mediated structural and functional disruption. These autoimmune-mediated diseases occur more commonly in females and are often found during pregnancy or in the post-partum period. Autoimmune diseases can either affect parts of the pituitary or hypothalamus, or can involve both sellar and suprasellar structures. Most of these cases comprise primary hypophysitis (PRH). Over the years, there has been a tremendous increase in the...
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#1Eugen Melcescu (LSU Health Sciences Center New Orleans)H-Index: 7
#2William B. Horton (University of Mississippi)H-Index: 4
Last. Christian A. Koch (University of Mississippi)H-Index: 38
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DrMedHabilAbstract: Graves orbitopathy (GO) is an autoimmune disorder re-presenting the most frequent extrathyroidal manifestation of Gravesdisease. It is rare, with an age-adjusted incidence of approximately16.0casesper100,000populationperyearinwomenand2.9casesper100,000 population per year in men. GO is an inflammatory processcharacterized by edema and inflammation of the extraocular musclesand an increase in orbital connective tissue and fat. Despite recentprogress in the understanding of its p...
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#1Eugen Melcescu (UMMC: University of Mississippi Medical Center)H-Index: 7
#2William B. Horton (UMMC: University of Mississippi Medical Center)H-Index: 4
Last. Christian A. Koch (UMMC: University of Mississippi Medical Center)H-Index: 38
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Euthyroid Graves’ orbitopathy (GO) combined with incidental papillary thyroid microcarcinoma has rarely been reported. CASE REPORT: A 61-year-old caucasian woman initially presented with progressive fatigue, exophthalmos, and thyroid function tests within normal limits. She underwent thyroidectomy, was found to have two incidental papillary thyroid microcarcinomas, and received radioactive iodine ablation to eliminate thyroid antigen. In addition to following her eye disease, TSH-receptor antibo...
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