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Type II Polyglandular Autoimmune Syndrome Workup

  • Author: Surendra Sivarajah, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
 
Updated: Aug 28, 2014
 

Laboratory Studies

The time course of the development of organ-specific autoimmunity makes it necessary to repeatedly reevaluate patients and their families over time. Provocative and suppressive testing frequently is necessary.[8, 9]

Among patients with type 1 diabetes mellitus, thyroid autoimmunity and celiac disease coexist with sufficient frequency to justify screening. Measuring annual thyrotropin levels in individuals with type 1 diabetes mellitus is recommended as cost-effective.

Clinical history and examination suggesting evidence of more than 1 endocrine deficiency should prompt testing, to include serum autoantibody screening and an evaluation of end-organ function.

Serum autoantibodies screen - This helps to verify the autoimmune etiology of the disease and to identify persons who may later develop multi-endocrine deficiency. This test also is useful in screening asymptomatic family members who may develop autoimmune endocrine disease in the future. The screening panel includes autoantibodies to the following:

  • 21-hydroxylase
  • 17-hydroxylase
  • Thyroid peroxidase (TPO) - The antibodies may be present without the progression to overt disease. If they are positive in a patient who is hypothyroid, they are diagnostic of Hashimoto's thyroiditis. Thyroid-stimulating immunoglobulins (TSI) in patients with signs of hyperthyroidism are diagnostic of Graves disease.
  • Glutamic acid decarboxylase-65 and islet cells - The antibodies are used to screen for type 1 diabetes mellitus.
  • Antitissue transglutaminase antibodies - These are used because 2-3% of patients with type 1 diabetes mellitus have celiac disease. Other antibodies for celiac disease include immunoglobulin-A (IgA) endomysial antibodies and antigliadin antibodies.
  • Parietal cell and anti-intrinsic factor antibodies - These are used to screen for pernicious anemia.

Evaluation of end-organ function is necessary to confirm the diagnosis in patients with positive autoantibodies. Even if these antibodies are negative, still perform testing if clinical suspicion is high, because the sensitivity of these assays is not perfect. Testing—some of which certain authorities advocate be performed annually, because not all diseases manifest at the time of the initial diagnosis—is recommended as follows:

  • Gonadotropins (follicle-stimulating hormone [FSH], luteinizing hormone [LH]), and appropriate sex hormones (testosterone, estradiol) (In females who have regular menses, gonadotropins and estradiol are not necessary.)
  • TSH, free thyroxine (T4), and free triiodothyronine (T3) if necessary
  • Adrenocorticotropic hormone (ACTH) plasma cortisol level and Cortrosyn-stimulation test
  • Plasma renin activity and serum electrolytes
  • Calcium, phosphorus, magnesium, and albumin
  • Fasting blood glucose
  • Complete blood count (CBC) with mean cell volume (MCV) and vitamin B-12 levels
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Imaging Studies

Perform a computed tomography (CT) scan of the adrenal glands to exclude hemorrhage and fungal infections as the cause of primary adrenal insufficiency.[4]

Perform a magnetic resonance imaging (MRI) scan of the pituitary if hypopituitarism (autoimmune hypophysitis vs other causes) is a possibility (rare).

Perform thyroid imaging (uptake and/or scan) only in patients who are hyperthyroid; in Graves disease, it shows uniform distribution and high uptake.

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Procedures

If antitissue transglutaminase antibodies are present, perform a small-bowel biopsy to rule out celiac disease. The majority of patients with high levels of antitissue transglutaminase are asymptomatic.

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Histologic Findings

The biopsy findings range from villi atrophy (with numerous plasma cells within the lamina propria) to almost complete disappearance of villi. These findings are not specific, but they are suggestive of celiac disease.

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Contributor Information and Disclosures
Author

Surendra Sivarajah, MD Interim Chief, Section of Endocrinology and Metabolism, The Reading Hospital and Medical Center

Surendra Sivarajah, MD is a member of the following medical societies: American College of Physicians, American Medical Association, Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Olakunle P A Akinsoto, MD, MB, BCh Consulting Staff, Family Health Center

Olakunle P A Akinsoto, MD, MB, BCh is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Medical Association

Disclosure: Nothing to disclose.

Chris Y Fan, MD Assistant Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Pennsylvania State University College of Medicine, Practice Site Director, Endocrinology and Nephrology Clinic, Hershey Medical Center

Chris Y Fan, MD is a member of the following medical societies: American College of Physicians, American Diabetes Association, American Medical Association, Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS Professor of Medicine (Endocrinology, Adj), Johns Hopkins School of Medicine; Affiliate Research Professor, Bioinformatics and Computational Biology Program, School of Computational Sciences, George Mason University; Principal, C/A Informatics, LLC

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Nutrition, American Society for Bone and Mineral Research, International Society for Clinical Densitometry, American College of Endocrinology, American College of Physicians, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Romesh Khardori, MD, PhD, FACP Professor of Endocrinology, Director of Training Program, Division of Endocrinology, Diabetes and Metabolism, Strelitz Diabetes and Endocrine Disorders Institute, Department of Internal Medicine, Eastern Virginia Medical School

Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, Endocrine Society

Disclosure: Nothing to disclose.

Additional Contributors

Ghassem Pourmotabbed, MD, MD 

Ghassem Pourmotabbed, MD, MD is a member of the following medical societies: American Diabetes Association, American Federation for Medical Research, Endocrine Society

Disclosure: Nothing to disclose.

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