Å B Saevik1, A-K Åkerman2,3, K Grønning4, I Nermoen4,5, S F Valland6, T E Finnes6, M Isaksson7, P Dahlqvist8, R Bergthorsdottir9,10, O Ekwall11,12, J Skov3,13, B G Nedrebø1,14, A-L Hulting3, J Wahlberg15, J Svartberg16,17, C Höybye3,18, I H Bleskestad19, A P Jørgensen20, O Kämpe18,21,22, M Øksnes1,21,23, S Bensing3,18, E S Husebye1,21,22,23. 1. Department of Clinical Medicine, University of Bergen, Bergen, Norway. 2. Department of Medicine, Örebro University Hospital, Örebro, Sweden. 3. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. 4. Division of Medicine, Akershus University Hospital, Lørenskog, Norway. 5. Institute of Clinical Medicine, Akershus University Hospital, University of Oslo, Lørenskog, Norway. 6. Division of Endocrinology, Innlandet Hospital Trust, Hamar, Norway. 7. Department of Medical Sciences, Uppsala University, Uppsala, Sweden. 8. Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden. 9. Department of Endocrinology, Sahlgrenska University Hospital, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 10. Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 11. Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 12. Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 13. Endocrine Division, Department of Medicine, Karlstad City Hospital, Karlstad, Sweden. 14. Department of Medicine, Haugesund Hospital, Haugesund, Norway. 15. Division of Endocrinology, Department of Medical and Health Sciences, Faculty of Health Sciences, Linköping University, Linköping, Sweden. 16. Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway. 17. Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway. 18. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden. 19. Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway. 20. Department of Endocrinology, Oslo University Hospital, Oslo, Norway. 21. Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden. 22. K.G. Jebsen center for Autoimmune Disorders, University of Bergen, Bergen, Norway. 23. Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Abstract
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.
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.
Authors: R Louise Rushworth; Georgina L Chrisp; Suzannah Bownes; David J Torpy; Henrik Falhammar Journal: Endocrine Date: 2022-05-18 Impact factor: 3.925
Authors: Kaja Grønning; Archana Sharma; Maria Adele Mastroianni; Bo Daniel Karlsson; Eystein S Husebye; Kristian Løvås; Ingrid Nermoen Journal: Endocrinol Diabetes Metab Case Rep Date: 2020-03-10