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:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/ot

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

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:

• 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

Other test include Complete blood count (CBC) with mean cell volume (MCV) and vitamin B-12 levels - These may show lymphocytosis, neutropenia, and anemia. If coexisting pernicious anemia exists, the MCV is elevated and the vitamin B-12 levels are low.

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/↓