Clues for early detection of autoimmune Addison's disease - myths and realities.

Autor: Saevik ÅB; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Åkerman AK; Department of Medicine, Örebro University Hospital, Örebro, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Grønning K; Division of Medicine, Akershus University Hospital, Lørenskog, Norway., Nermoen I; Division of Medicine, Akershus University Hospital, Lørenskog, Norway.; Institute of Clinical Medicine, Akershus University Hospital, University of Oslo, Lørenskog, Norway., Valland SF; Division of Endocrinology, Innlandet Hospital Trust, Hamar, Norway., Finnes TE; Division of Endocrinology, Innlandet Hospital Trust, Hamar, Norway., Isaksson M; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Dahlqvist P; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Bergthorsdottir R; Department of Endocrinology, Sahlgrenska University Hospital, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ekwall O; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Skov J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Endocrine Division, Department of Medicine, Karlstad City Hospital, Karlstad, Sweden., Nedrebø BG; Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Department of Medicine, Haugesund Hospital, Haugesund, Norway., Hulting AL; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Wahlberg J; Division of Endocrinology, Department of Medical and Health Sciences, Faculty of Health Sciences, Linköping University, Linköping, Sweden., Svartberg J; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.; Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway., Höybye C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden., Bleskestad IH; Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway., Jørgensen AP; Department of Endocrinology, Oslo University Hospital, Oslo, Norway., Kämpe O; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.; K.G. Jebsen center for Autoimmune Disorders, University of Bergen, Bergen, Norway., Øksnes M; Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Bensing S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden., Husebye ES; Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.; K.G. Jebsen center for Autoimmune Disorders, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Jazyk: angličtina
Zdroj: Journal of internal medicine [J Intern Med] 2018 Feb; Vol. 283 (2), pp. 190-199. Date of Electronic Publication: 2017 Nov 03.
DOI: 10.1111/joim.12699
Abstrakt: Background: Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce.
Objective: Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD.
Material and Methods: A multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978-2016. Scrutiny of medical records provided patient data and laboratory values.
Results: Low sodium occurred in 207 of 247 (84%), but only one-third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty-three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Serum cortisol was consistently decreased (median 62 nmol L -1 [1-668]) and significantly lower in individuals with adrenal crisis (38 nmol L -1 [2-442]) than in those without (81 nmol L -1 [1-668], P < 0.001).
Conclusion: The most consistent biochemical finding of untreated AAD was low sodium independent of the degree of glucocorticoid deficiency. Half of the patients had elevated TSH levels. Only a minority presented with marked hyperkalaemia or other nonhormonal abnormalities. Thus, unexplained low sodium and/or elevated TSH should prompt consideration of an undiagnosed AAD, and on clinical suspicion bring about assay of cortisol and ACTH. Presence of 21-hydroxylase autoantibodies confirms autoimmune aetiology. Anticipating additional abnormalities in routine blood tests may delay diagnosis.
(© 2017 The Association for the Publication of the Journal of Internal Medicine.)
Databáze: MEDLINE
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