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/other [lab test] is diagnostic of [disease name].

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) type 1 and type 2 include autoantibodies to:

• 21-hydroxylase and 17-hydroxylase
• Glutamic acid decarboxylase and islet cell antibodies
• Thyroid peroxidase (TPO) and thyroid-stimulating immunoglobulins (TSI)
• Parietal cell and anti-intrinsic factor

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
Complete blood count (CBC)	Signs of inflammation: Lymphocytosis Neutropenia Anemia Increased MCV
CD4 count and HIV testing	CD4 count N/↓
Pottasium hydroxide test	May show fungal infection
Electrolytes	Adrenal insufficiency may present with: Hyponatremia Hyperkalemia Mild metabolic acidosis Azotemia
Complete metabolic profile	Sings of hypoparathyroidism: 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

• • [abnormal test 1]
  • [abnormal test 2]
  • [abnormal test 3]

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