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Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them...

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Autores principales: Halabi, Inbal, Barohom, Marie Noufi, Peleg, Sarit, Trougouboff, Phillippe, Elias-Assad, Ghadir, Agbaria, Rhania, Tenenbaum-Rakover, Yardena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237854/
https://www.ncbi.nlm.nih.gov/pubmed/34194389
http://dx.doi.org/10.3389/fendo.2021.645279
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author Halabi, Inbal
Barohom, Marie Noufi
Peleg, Sarit
Trougouboff, Phillippe
Elias-Assad, Ghadir
Agbaria, Rhania
Tenenbaum-Rakover, Yardena
author_facet Halabi, Inbal
Barohom, Marie Noufi
Peleg, Sarit
Trougouboff, Phillippe
Elias-Assad, Ghadir
Agbaria, Rhania
Tenenbaum-Rakover, Yardena
author_sort Halabi, Inbal
collection PubMed
description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease—Hashimoto’s thyroiditis, Addison’s disease, diabetes mellitus type 1 and primary ovarian insufficiency—developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption.
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spelling pubmed-82378542021-06-29 Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy Halabi, Inbal Barohom, Marie Noufi Peleg, Sarit Trougouboff, Phillippe Elias-Assad, Ghadir Agbaria, Rhania Tenenbaum-Rakover, Yardena Front Endocrinol (Lausanne) Endocrinology Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease—Hashimoto’s thyroiditis, Addison’s disease, diabetes mellitus type 1 and primary ovarian insufficiency—developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption. Frontiers Media S.A. 2021-06-14 /pmc/articles/PMC8237854/ /pubmed/34194389 http://dx.doi.org/10.3389/fendo.2021.645279 Text en Copyright © 2021 Halabi, Barohom, Peleg, Trougouboff, Elias-Assad, Agbaria and Tenenbaum-Rakover https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Halabi, Inbal
Barohom, Marie Noufi
Peleg, Sarit
Trougouboff, Phillippe
Elias-Assad, Ghadir
Agbaria, Rhania
Tenenbaum-Rakover, Yardena
Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title_full Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title_fullStr Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title_full_unstemmed Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title_short Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy
title_sort case report: severe hypocalcemic episodes due to autoimmune enteropathy
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237854/
https://www.ncbi.nlm.nih.gov/pubmed/34194389
http://dx.doi.org/10.3389/fendo.2021.645279
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