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==Laboratory Findings== | ==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:<ref name="BruserudOftedal2016">{{cite journal|last1=Bruserud|first1=Øyvind|last2=Oftedal|first2=Bergithe E.|last3=Landegren|first3=Nils|last4=Erichsen|first4=Martina M.|last5=Bratland|first5=Eirik|last6=Lima|first6=Kari|last7=Jørgensen|first7=Anders P.|last8=Myhre|first8=Anne G.|last9=Svartberg|first9=Johan|last10=Fougner|first10=Kristian J.|last11=Bakke|first11=Åsne|last12=Nedrebø|first12=Bjørn G.|last13=Mella|first13=Bjarne|last14=Breivik|first14=Lars|last15=Viken|first15=Marte K.|last16=Knappskog|first16=Per M.|last17=Marthinussen|first17=Mihaela C.|last18=Løvås|first18=Kristian|last19=Kämpe|first19=Olle|last20=Wolff|first20=Anette B.|last21=Husebye|first21=Eystein S.|title=A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1|journal=The Journal of Clinical Endocrinology & Metabolism|volume=101|issue=8|year=2016|pages=2975–2983|issn=0021-972X|doi=10.1210/jc.2016-1821}}</ref><ref name="PuelDöffinger2010">{{cite journal|last1=Puel|first1=Anne|last2=Döffinger|first2=Rainer|last3=Natividad|first3=Angels|last4=Chrabieh|first4=Maya|last5=Barcenas-Morales|first5=Gabriela|last6=Picard|first6=Capucine|last7=Cobat|first7=Aurélie|last8=Ouachée-Chardin|first8=Marie|last9=Toulon|first9=Antoine|last10=Bustamante|first10=Jacinta|last11=Al-Muhsen|first11=Saleh|last12=Al-Owain|first12=Mohammed|last13=Arkwright|first13=Peter D.|last14=Costigan|first14=Colm|last15=McConnell|first15=Vivienne|last16=Cant|first16=Andrew J.|last17=Abinun|first17=Mario|last18=Polak|first18=Michel|last19=Bougnères|first19=Pierre-François|last20=Kumararatne|first20=Dinakantha|last21=Marodi|first21=László|last22=Nahum|first22=Amit|last23=Roifman|first23=Chaim|last24=Blanche|first24=Stéphane|last25=Fischer|first25=Alain|last26=Bodemer|first26=Christine|last27=Abel|first27=Laurent|last28=Lilic|first28=Desa|last29=Casanova|first29=Jean-Laurent|title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I|journal=The Journal of Experimental Medicine|volume=207|issue=2|year=2010|pages=291–297|issn=0022-1007|doi=10.1084/jem.20091983}}</ref><ref name="pmid19337707">{{cite journal |vauthors=Hunger-Battefeld W, Fath K, Mandecka A, Kiehntopf M, Kloos C, Müller UA, Wolf G |title=[Prevalence of polyglandular autoimmune syndrome in patients with diabetes mellitus type 1] |language=German |journal=Med. Klin. (Munich) |volume=104 |issue=3 |pages=183–91 |year=2009 |pmid=19337707 |doi=10.1007/s00063-009-1030-x |url=}}</ref> | 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:<ref name="BruserudOftedal2016">{{cite journal|last1=Bruserud|first1=Øyvind|last2=Oftedal|first2=Bergithe E.|last3=Landegren|first3=Nils|last4=Erichsen|first4=Martina M.|last5=Bratland|first5=Eirik|last6=Lima|first6=Kari|last7=Jørgensen|first7=Anders P.|last8=Myhre|first8=Anne G.|last9=Svartberg|first9=Johan|last10=Fougner|first10=Kristian J.|last11=Bakke|first11=Åsne|last12=Nedrebø|first12=Bjørn G.|last13=Mella|first13=Bjarne|last14=Breivik|first14=Lars|last15=Viken|first15=Marte K.|last16=Knappskog|first16=Per M.|last17=Marthinussen|first17=Mihaela C.|last18=Løvås|first18=Kristian|last19=Kämpe|first19=Olle|last20=Wolff|first20=Anette B.|last21=Husebye|first21=Eystein S.|title=A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1|journal=The Journal of Clinical Endocrinology & Metabolism|volume=101|issue=8|year=2016|pages=2975–2983|issn=0021-972X|doi=10.1210/jc.2016-1821}}</ref><ref name="PuelDöffinger2010">{{cite journal|last1=Puel|first1=Anne|last2=Döffinger|first2=Rainer|last3=Natividad|first3=Angels|last4=Chrabieh|first4=Maya|last5=Barcenas-Morales|first5=Gabriela|last6=Picard|first6=Capucine|last7=Cobat|first7=Aurélie|last8=Ouachée-Chardin|first8=Marie|last9=Toulon|first9=Antoine|last10=Bustamante|first10=Jacinta|last11=Al-Muhsen|first11=Saleh|last12=Al-Owain|first12=Mohammed|last13=Arkwright|first13=Peter D.|last14=Costigan|first14=Colm|last15=McConnell|first15=Vivienne|last16=Cant|first16=Andrew J.|last17=Abinun|first17=Mario|last18=Polak|first18=Michel|last19=Bougnères|first19=Pierre-François|last20=Kumararatne|first20=Dinakantha|last21=Marodi|first21=László|last22=Nahum|first22=Amit|last23=Roifman|first23=Chaim|last24=Blanche|first24=Stéphane|last25=Fischer|first25=Alain|last26=Bodemer|first26=Christine|last27=Abel|first27=Laurent|last28=Lilic|first28=Desa|last29=Casanova|first29=Jean-Laurent|title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I|journal=The Journal of Experimental Medicine|volume=207|issue=2|year=2010|pages=291–297|issn=0022-1007|doi=10.1084/jem.20091983}}</ref><ref name="pmid19337707">{{cite journal |vauthors=Hunger-Battefeld W, Fath K, Mandecka A, Kiehntopf M, Kloos C, Müller UA, Wolf G |title=[Prevalence of polyglandular autoimmune syndrome in patients with diabetes mellitus type 1] |language=German |journal=Med. Klin. (Munich) |volume=104 |issue=3 |pages=183–91 |year=2009 |pmid=19337707 |doi=10.1007/s00063-009-1030-x |url=}}</ref> | ||
*21-hydroxylase and 17-hydroxylase | *21-hydroxylase and 17-hydroxylase | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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 antibodies, thyroid peroxidase (TPO), TSH receptor and thyroid-stimulating immunoglobulins (TSI). Other tests include thyroid function test, adrenal function test, electrolytes, blood glucose, 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]
- 21-hydroxylase and 17-hydroxylase
- Glutamic acid decarboxylase (GAD) and islet cell antibodies
- Thyroid peroxidase (TPO), TSH receptor and thyroid-stimulating immunoglobulins (TSI).
- Ca+ sensitive receptor
- Parietal cell and anti-intrinsic factor
- Transglutaminase gliadin
- Tyrosine Hydroxylase and Tyrosinase
- Anti-cytokine antibodies such as IL17, IL17F and IL22
Other test include:
| 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/↓ |
| Pottasium 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 blood glucose
↑ HbA1c |
| Vitamin B12 level | Normal/↓ |
References
- ↑ 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.
- ↑ 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.
- ↑ 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.