Autoimmune polyendocrine syndrome laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

Laboratory findings suggestive with the diagnosis of autoimmune polyendocrine syndrome (APS) include testing for the presence of autoantibodies (serology) followed by functional testing. Patients are tested for autoantibodies such as antibodies against 21-hydroxylase, 17-hydroxylase, glutamic acid decarboxylase (GAD), islet cell, thyroid peroxidase (TPO), TSH receptor and thyroid-stimulating immunoglobulins (TSI). Other tests include thyroid function test, adrenal function test, electrolytes, blood glucose, complete blood count (CBC) and vitamin B12.

Laboratory Findings

Laboratory findings suggestive with the diagnosis of autoimmune polyendocrine syndrome (APS) include testing for the presence of autoantibodies (serologic measurement) followed by functional testing. Antibodies against the following proteins are tested:[1][2][3]

Other test include:[4][5][6][7][8]

Name of laboratory test Findings suggestive of

abnormality

Complete blood count (CBC) Lymphocytosis

Neutropenia

Anemia

Increased MCV

CD4 count and HIV testing CD4 count may be Normal/↓ 
Potassium hydroxide test May show fungal infection
Electrolytes Hyponatremia

Hyperkalemia

Mild metabolic acidosis

Azotemia

Complete metabolic profile Hypocalcemia

Hyperphosphatemia

Hypomagnesemia

Adrenal function test ACTH

Plasma renin activity

Abnormal cosyntropin stimulation

Thyroid function test TSH

↓  Free T4 and T3

Thyrotropin

Blood Glucose test Fasting plasma glucose

HbA1c

Vitamin B12 level Normal/↓

References

  1. Bruserud, Øyvind; Oftedal, Bergithe E.; Landegren, Nils; Erichsen, Martina M.; Bratland, Eirik; Lima, Kari; Jørgensen, Anders P.; Myhre, Anne G.; Svartberg, Johan; Fougner, Kristian J.; Bakke, Åsne; Nedrebø, Bjørn G.; Mella, Bjarne; Breivik, Lars; Viken, Marte K.; Knappskog, Per M.; Marthinussen, Mihaela C.; Løvås, Kristian; Kämpe, Olle; Wolff, Anette B.; Husebye, Eystein S. (2016). "A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1". The Journal of Clinical Endocrinology & Metabolism. 101 (8): 2975–2983. doi:10.1210/jc.2016-1821. ISSN 0021-972X.
  2. Puel, Anne; Döffinger, Rainer; Natividad, Angels; Chrabieh, Maya; Barcenas-Morales, Gabriela; Picard, Capucine; Cobat, Aurélie; Ouachée-Chardin, Marie; Toulon, Antoine; Bustamante, Jacinta; Al-Muhsen, Saleh; Al-Owain, Mohammed; Arkwright, Peter D.; Costigan, Colm; McConnell, Vivienne; Cant, Andrew J.; Abinun, Mario; Polak, Michel; Bougnères, Pierre-François; Kumararatne, Dinakantha; Marodi, László; Nahum, Amit; Roifman, Chaim; Blanche, Stéphane; Fischer, Alain; Bodemer, Christine; Abel, Laurent; Lilic, Desa; Casanova, Jean-Laurent (2010). "Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I". The Journal of Experimental Medicine. 207 (2): 291–297. doi:10.1084/jem.20091983. ISSN 0022-1007.
  3. Hunger-Battefeld W, Fath K, Mandecka A, Kiehntopf M, Kloos C, Müller UA, Wolf G (2009). "[Prevalence of polyglandular autoimmune syndrome in patients with diabetes mellitus type 1]". Med. Klin. (Munich) (in German). 104 (3): 183–91. doi:10.1007/s00063-009-1030-x. PMID 19337707.
  4. Chakera AJ, Vaidya B (2010). "Addison disease in adults: diagnosis and management". Am. J. Med. 123 (5): 409–13. doi:10.1016/j.amjmed.2009.12.017. PMID 20399314.
  5. Husebye ES, Allolio B, Arlt W, Badenhoop K, Bensing S, Betterle C, Falorni A, Gan EH, Hulting AL, Kasperlik-Zaluska A, Kämpe O, Løvås K, Meyer G, Pearce SH (2014). "Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency". J. Intern. Med. 275 (2): 104–15. doi:10.1111/joim.12162. PMID 24330030.
  6. Puttanna A, Cunningham AR, Dainty P (2013). "Addison's disease and its associations". BMJ Case Rep. 2013. doi:10.1136/bcr-2013-010473. PMC 3736622. PMID 23893277.
  7. Dong YH, Fu DG (2014). "Autoimmune thyroid disease: mechanism, genetics and current knowledge". Eur Rev Med Pharmacol Sci. 18 (23): 3611–8. PMID 25535130.
  8. Caturegli P, De Remigis A, Rose NR (2014). "Hashimoto thyroiditis: clinical and diagnostic criteria". Autoimmun Rev. 13 (4–5): 391–7. doi:10.1016/j.autrev.2014.01.007. PMID 24434360.

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