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{{Autoimmune polyendocrine syndrome}} | {{Autoimmune polyendocrine syndrome}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Akshun}} | ||
==Overview== | ==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 against 21-hydroxylase, 17-hydroxylase glutamic acid decarboxylase (GAD), islet cell | 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 alpha-hydroxylase deficiency|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, [[Electrolyte|electrolytes]], [[blood]] [[glucose]], [[Complete blood counts|complete blood count]] ([[CBC]]) and [[vitamin B12]]. | ||
==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: | [[Laboratory]] findings suggestive with the [[diagnosis]] of autoimmune polyendocrine syndrome (APS) include testing for the presence of [[autoantibodies]] ([[Serological testing|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> | ||
Other test include: | *[[21-Hydroxylase|21-hydroxylase]] and 17-hydroxylase | ||
*[[Glutamic acid decarboxylase]] ([[GAD]]) and [[islet cell]] antibodies | |||
*[[Thyroid peroxidase]] (TPO), [[TSH receptor]] and thyroid-stimulating immunoglobulins ([[TSI]]). | |||
*[[Calcium|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:<ref name="pmid20399314">{{cite journal |vauthors=Chakera AJ, Vaidya B |title=Addison disease in adults: diagnosis and management |journal=Am. J. Med. |volume=123 |issue=5 |pages=409–13 |year=2010 |pmid=20399314 |doi=10.1016/j.amjmed.2009.12.017 |url=}}</ref><ref name="pmid24330030">{{cite journal |vauthors=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 |title=Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency |journal=J. Intern. Med. |volume=275 |issue=2 |pages=104–15 |year=2014 |pmid=24330030 |doi=10.1111/joim.12162 |url=}}</ref><ref name="pmid23893277">{{cite journal |vauthors=Puttanna A, Cunningham AR, Dainty P |title=Addison's disease and its associations |journal=BMJ Case Rep |volume=2013 |issue= |pages= |year=2013 |pmid=23893277 |pmc=3736622 |doi=10.1136/bcr-2013-010473 |url=}}</ref><ref name="pmid25535130">{{cite journal |vauthors=Dong YH, Fu DG |title=Autoimmune thyroid disease: mechanism, genetics and current knowledge |journal=Eur Rev Med Pharmacol Sci |volume=18 |issue=23 |pages=3611–8 |year=2014 |pmid=25535130 |doi= |url=}}</ref><ref name="pmid24434360">{{cite journal |vauthors=Caturegli P, De Remigis A, Rose NR |title=Hashimoto thyroiditis: clinical and diagnostic criteria |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=391–7 |year=2014 |pmid=24434360 |doi=10.1016/j.autrev.2014.01.007 |url=}}</ref> | |||
{| class="wikitable" | {| class="wikitable" | ||
!Name of laboratory test | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Name of laboratory test | ||
!Findings suggestive of | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Findings suggestive of | ||
abnormality | abnormality | ||
|- | |- | ||
|Complete blood count (CBC) | |[[Complete blood counts|Complete blood count]] (CBC) | ||
|Lymphocytosis | |[[Lymphocytosis]] | ||
Neutropenia | [[Neutropenia]] | ||
Anemia | [[Anemia]] | ||
Increased MCV | [[Macrocytosis|Increased MCV]] | ||
|- | |- | ||
|CD4 count and HIV testing | |[[CD4]] count and [[HIV]] testing | ||
|CD4 count may be Normal/↓ | |[[CD4]] count may be Normal/↓ | ||
|- | |- | ||
| | |[[Potassium hydroxide]] test | ||
|May show fungal infection | |May show [[fungal infection]] | ||
|- | |- | ||
|Electrolytes | |[[Electrolyte|Electrolytes]] | ||
|Hyponatremia | |[[Hyponatremia]] | ||
Hyperkalemia | [[Hyperkalemia]] | ||
Mild metabolic acidosis | Mild [[metabolic acidosis]] | ||
Azotemia | [[Azotemia]] | ||
|- | |- | ||
|Complete metabolic profile | |Complete [[metabolic]] profile | ||
|Hypocalcemia | |[[Hypocalcemia]] | ||
Hyperphosphatemia | [[Hyperphosphatemia]] | ||
Hypomagnesemia | [[Hypomagnesemia]] | ||
|- | |- | ||
|Adrenal function test | |[[Adrenal]] function test | ||
|'''↑''' ACTH | |'''↑''' [[ACTH]] | ||
'''↑''' Plasma renin activity | '''↑''' [[Plasma renin activity]] | ||
Abnormal cosyntropin stimulation | Abnormal [[cosyntropin]] stimulation | ||
|- | |- | ||
|Thyroid function test | |[[Thyroid function tests|Thyroid function test]] | ||
|'''↑''' TSH | |'''↑''' [[TSH]] | ||
↓ | ↓ [[Free T4]] and [[T3]] | ||
↑ Thyrotropin | ↑ [[Thyrotropin]] | ||
|- | |- | ||
|Blood Glucose test | |[[Blood glucose|Blood Glucose]] test | ||
|↑ Fasting | |↑ [[Fasting plasma glucose]] | ||
↑ HbA1c | ↑ [[HbA1c]] | ||
|- | |- | ||
|Vitamin B12 level | |[[Vitamin B12]] level | ||
|Normal/↓ | |Normal/↓ | ||
|} | |} | ||
Latest revision as of 15:40, 30 October 2017
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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]
- 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:[4][5][6][7][8]
| Name of laboratory test | Findings suggestive of
abnormality |
|---|---|
| Complete blood count (CBC) | Lymphocytosis |
| CD4 count and HIV testing | CD4 count may be Normal/↓ |
| Potassium hydroxide test | May show fungal infection |
| Electrolytes | Hyponatremia
Mild metabolic acidosis |
| Complete metabolic profile | Hypocalcemia |
| Adrenal function test | ↑ ACTH
Abnormal cosyntropin stimulation |
| Thyroid function test | ↑ TSH |
| Blood Glucose test | ↑ Fasting plasma 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Dong YH, Fu DG (2014). "Autoimmune thyroid disease: mechanism, genetics and current knowledge". Eur Rev Med Pharmacol Sci. 18 (23): 3611–8. PMID 25535130.
- ↑ 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.