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The article presents the discussion on revised recommendations for celiac disease (CD) screening and biopsy including consideration of a serology-based diagnostic approach. Topics include expanded section on skin disorders showing continuous glucose monitoring (CGM)-related and insulin pump-related skin issues; and screening for thyroid disease by measurement of TSH, anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies.

Objective: While vitamin D regulates immune cells, little is known about it in autoimmune Addison's disease (AAD). We investigated the vitamin D status in AAD patients from five European populations to assess its deficiency. In addition, we studied two case-control cohorts for vitamin D metabolism and pathway genes. Design: Cross-sectional study. Methods: A total of 1028 patients with AAD from Germany (n = 239), Italy (n = 328), Norway (n = 378), UK (n = 44) and Poland (n = 39) and 679 controls from Germany (n = 301) and Norway (n = 378) were studied for 25(OH)D3 (primary objective). Secondary objectives (1,25(OH)2D3 and pathway genes) were examined in case-controls from Germany and Norway correlating 25(OH)D3 and single nucleotide polymorphisms within genes encoding the vitamin D receptor (VDR), 1-α-hydroxylase (CYP27B1), 25-hydroxylase (CYP2R1), 24-hydroxylase (CYP24A1) and vitamin D binding protein (GC/DBP). Results: Vitamin D deficiency (25(OH)D3 10-20 ng/mL) was highly prevalent in AAD patients (34-57%), 5-22% were severely deficient (<10 ng/mL), 28-38% insufficient (20-30 ng/mL) and only 7-14% suffici ent (>30 ng/mL). Lower 25(OH)D3 and 1,25(OH)2D3 levels were observed both in Norwegian and German AAD (P = 0.03/0.003 and P = 1 x 10-5/< 1 x 10-7, respectively) the former was associated with CYP2R1 (rs1553006) genotype G. Whereas controls achieved sufficient median 25(OH)D3 in summers (21.4 to 21.9 ng/mL), AAD patients remained largely deficient (18.0 to 21.2 ng/mL) and synthesize less 1,25(OH)2D3. Conclusion: Vitamin D deficiency and insufficiency are highly prevalent in AAD patients. The vitamin D status of AAD may be influenced by genetic factors and suggests individual vit amin D requirements throughout the year. [ABSTRACT FROM AUTHOR]

Objective: Our objective was to investigate the epidemiology of autoimmune Addison's disease (AD) in Germany. Design: Routine data were analyzed from the Statutory Health Insurance (SHI) database of the Techniker Krankenkasse (TK) for an observation period from 01/01/2008 to 31/12/2012. The TK is one of the largest German health care insurance providers covering more than 10% of the German population. Subjects and methods: Between 2008 and 2012, a total of 2477 diagnoses of primary adrenal failure were recorded in the SHI database. After exclusion of secondary, iatrogenic or other non-idiopathic forms and after adjustment for incomplete data sets, 1364 diagnoses of autoimmune-mediated AD remained. Results: The prevalence of AD in our cohort showed a steady increase from 82 per million in 2008 to 87 per million in 2012. On average, the prevalence rose about 1.8% per year, and due to a pronounced increase (2.7%) in females. The prevalence was lower in men (63-68 per million) than in women (96-108 per million). Autoimmune comorbidities were found in 46.5% of AD patients. Adrenal crises were documented with a frequency of 14-17/100 patient years. Conclusions: These data provide a first epidemiological profile of this rare and perilous endocrine disease in Germany. Although the prevalence of AD appears lower than in the Scandinavian countries, the increasing figures in females over the last 5 years warrant further investigations. Furthermore, adrenal crises pose a considerable burden. Hereby, we can show that health insurance data provide a valuable tool for epidemiological studies in the absence of national registries. [ABSTRACT FROM AUTHOR]

Summary OBJECTIVE Addison's disease is associated with particular haplotypes of the human leucocyte antigen (HLA) region [DQA1*0501-DQB1*0201 (DQ2) and DQA1*0301-DQB1*0302 (DQ8)]. This locus harbours several human endogenous retroviral (HERV) long-terminal repeats (LTR). LTRs within the HLA region have been shown to confer additional susceptibility to type 1 diabetes and rheumatoid arthritis. DESIGN We investigated the role of LTR3 and LTR13, both of which are located adjacent to the DQB1 gene, in Addison's disease. PATIENTS Eighty-seven patients and 160 controls were genotyped for HLA-DQA, -DQB, and the presence or absence of LTR3 and LTR13. RESULTS Significantly more patients’ HLA alleles than those of controls carried the LTR13 insertion (19·0% vs. 10·6%, P = 0·0143), whereas there was only a trend for LTR3 (allele-wise chi-squared test: P = 0·0941). Both, LTR3 and LTR13 are in strong linkage disequilibrium with DQ8, which itself was significantly more frequent in patients than in controls (29·9% vs. 15·0%, P = 0·0089). However, significantly more alleles of DQ8 + patients than of DQ8 + controls carried the LTR13 insertion (44·2% vs. 18·8%, P = 0·0119), whereas we did not observe any difference for LTR3 in the DQ8 + subset (30·5 vs. 23·1%, P = 0·9416). CONCLUSIONS We have found preliminary evidence that the endogenous retroviral element DQ-LTR13, but not LTR3, is associated with Addison's disease. LTR13 appears to enhance HLA-DQ8 mediated disease risk. This retroviral insertion therefore might represent a novel susceptibility factor in Addison's disease, but these findings need to be confirmed in a larger data set. [ABSTRACT FROM AUTHOR]

Zusammenfassung  Der Beitrag beschreibt den Fall einer 38-jährigen Patientin mit adrenogenitalem Syndrom (21-Hydroxylase-Mangel). Die dringend erforderliche Kortisonsubstitution war seit dem 15. Lebensjahr gegen ärztlichen Rat abgesetzt worden, trotzdem war das Befinden lange Zeit stabil. Vor 12 Monaten entwickelte sich erstmals eine lebensbedrohliche Addison-Krise, in den letzten Wochen kam es wiederholt zu Dekompensationen mit depressiv-suizidaler Begleitsymptomatik. Nach dem zweiten Suizidversuch erfolgte die psychiatrische Ersthospitalisierung mit der Diagnose einer organisch bedingten Depression. Unter suffizienter Kortisonsubstitution mit antidepressiver und stimmungsstabilisierender Medikation kam es zu eindrücklicher Besserung. Aufgrund mangelnder Compliance im ambulanten Setting entwickelte sich jedoch rasch ein Rezidiv mit erneutem Suizidversuch. Nach Wiederaufnahme der Medikation kam es erneut zur Remission. [ABSTRACT FROM AUTHOR]