scholarly journals Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

2021 ◽  
Vol 12 ◽  
Author(s):  
Inbal Halabi ◽  
Marie Noufi Barohom ◽  
Sarit Peleg ◽  
Phillippe Trougouboff ◽  
Ghadir Elias-Assad ◽  
...  

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.

2015 ◽  
Author(s):  
Anzhalika Solntsava ◽  
Olga Zagrebaeva ◽  
Nadeya Peskavaya ◽  
Viktoryia Kozel ◽  
Hanna Mikhno

2002 ◽  
Vol 58 (23) ◽  
pp. 1589-1598
Author(s):  
ENZLIN P ◽  
MATHIEU C ◽  
VAN DEN BRUEL A ◽  
BOSTEELS J ◽  
VANDERSCHUEREN D ◽  
...  

2021 ◽  
Vol 7 (1) ◽  
pp. 39-62
Author(s):  
Lauren M. Pachman ◽  
Brian E. Nolan ◽  
Deidre DeRanieri ◽  
Amer M. Khojah

Abstract Purpose of review To identify clues to disease activity and discuss therapy options. Recent findings The diagnostic evaluation includes documenting symmetrical proximal muscle damage by exam and MRI, as well as elevated muscle enzymes—aldolase, creatine phosphokinase, LDH, and SGOT—which often normalize with a longer duration of untreated disease. Ultrasound identifies persistent, occult muscle inflammation. The myositis-specific antibodies (MSA) and myositis-associated antibodies (MAA) are associated with specific disease course variations. Anti-NXP-2 is found in younger children and is associated with calcinosis; anti-TIF-1γ+ juvenile dermatomyositis has a longer disease course. The diagnostic rash—involving the eyelids, hands, knees, face, and upper chest—is the most persistent symptom and is associated with microvascular compromise, reflected by loss of nailfold (periungual) end row capillaries. This loss is associated with decreased bioavailability of oral prednisone; the bioavailability of other orally administered medications should also be considered. At diagnosis, at least 3 days of intravenous methyl prednisolone may help control the HLA-restricted and type 1/2 interferon–driven inflammatory process. The requirement for avoidance of ultraviolet light exposure mandates vitamin D supplementation. Summary This often chronic illness targets the cardiovascular system; mortality has decreased from 30 to 1–2% with corticosteroids. New serological biomarkers indicate occult inflammation: ↑CXCL-10 predicts a longer disease course. Some biologic therapies appear promising.


Nutrients ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1412
Author(s):  
Katarzyna Piotrowska ◽  
Maciej Tarnowski

In recent years, adipose tissue has attracted a lot of attention. It is not only an energy reservoir but also plays important immune, paracrine and endocrine roles. BMAT (bone marrow adipose tissue) is a heterogeneous tissue, found mostly in the medullary canal of the long bones (tibia, femur and humerus), in the vertebrae and iliac crest. Adipogenesis in bone marrow cavities is a consequence of ageing or may accompany pathologies like diabetes mellitus type 1 (T1DM), T2DM, anorexia nervosa, oestrogen and growth hormone deficiencies or impaired haematopoiesis and osteoporosis. This paper focuses on studies concerning BMAT and its physiology in dietary interventions, like obesity in humans and high fat diet in rodent studies; and opposite: anorexia nervosa and calorie restriction in animal models.


2020 ◽  
Vol 33 (12) ◽  
pp. 1525-1531
Author(s):  
Feneli Karachaliou ◽  
Nikitas Skarakis ◽  
Evangelia Bountouvi ◽  
Theodora Spyropoulou ◽  
Eleni Tsintzou ◽  
...  

AbstractObjectivesTreatment of children with Hashimoto thyroiditis (HT) and particularly of those with coexistent diabetes mellitus type 1 (TIDM) and normal/mildly elevated serum TSH is controversial. The aim of the study was to evaluate the natural course of HT in children with TIDM compared with children with no other coexistent autoimmunity and investigate for possible predictive factors of thyroid function deterioration.MethodsData from 96 children with HT, 32 with T1DM (23 girls, nine boys) mean (sd) age: 10.6 (2.3) years, and 64 age and sex-matched without T1DΜ (46 girls, 18 boys), mean (sd) age: 10.2 (2.9) years were evaluated retrospectively. They all had fT4 and TSH values within normal ranges and available data for at least three years’ follow-up.ResultsDuring the follow-up period, 11 children (34.4%) with TIDM exhibited subclinical hypothyroidism and two children (6.2%) progressed to overt hypothyroidism compared to 12 (18.8%) and two (3.1%) among children without TIDM, respectively. Among children with HT, a higher percentage (40.6%) of children with T1DM progressed to subclinical or overt hypothyroidism, compared with children (21.9%) with similar characteristics but without TIDM or other coexistent autoimmunity.ConclusionsThe annual conversion rate from euthyroidism to hypothyroidism in children with T1DM was significantly higher compared to sex and age-matched children without TIDM. Prospective randomized trials are needed to support the view of an earlier intervention therapy even in milder degrees of thyroid failure in these children.


2011 ◽  
Vol 39 (2) ◽  
pp. 377-381 ◽  
Author(s):  
HEINI POHJANKOSKI ◽  
HANNU KAUTIAINEN ◽  
MATTI KORPPI ◽  
ANNELI SAVOLAINEN

Objective.To describe the occurrence and main clinical and laboratory findings of patients having both juvenile idiopathic arthritis (JIA) and diabetes mellitus type 1 (DM-1) in a period of 30 years.Methods.Eighty-two patients having simultaneous JIA and DM-1 were identified in the reimbursement registers of the Finnish National Institute of Insurance during the period 1976–2005. Data on their clinical histories were collected from patient files.Results.Occurrence of simultaneous JIA and DM-1 increased 4.5-fold between the first (1976-85) and the last (1996–2005) decade. Prevalence of uveitis was 7%, of rheumatoid factor seropositivity 15%; 22% of patients had a third autoimmune disease [autoimmune disease (AID)], and 16% had serious psychiatric problems.Conclusion.The occurrence of patients with the 2 diseases, JIA and DM-1, increased over 3 decades. The prevalence of uveitis was low, the number of seropositive patients was high, and further cases of AID were frequent. Patients had multiple additional problems necessitating multiprofessional care.


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