Rare Hematology News

Disease Profile

Autoimmune polyglandular syndrome type 2

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

ageofonset-adult.svg

ICD-10

E31.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Diabetes mellitus, Addison's disease, myxedema; Multiple endocrine deficiency syndrome, type 2; Polyglandular autoimmune syndrome, type 2;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome type 2 is diagnosed in adulthood, typically around age 30.[2] The cause of autoimmune polyglandular syndrome type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. About 10% of patients with APS-2 and Addison’s disease had a relative with adrenal insufficiency, and about 10% of patients with APS-2 and type 1 diabetes had a sibling with the same disease, and, or with autoimmune thyroid disease.[1][3]

Currently, there are no unique tests to detect APS-2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset. Treatment is mainly with hormone replacement therapy.[1][3][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Celiac disease
0002608
Graves disease
0100647
Hashimoto thyroiditis
0000872
Primary adrenal insufficiency
0008207
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
30%-79% of people have these symptoms
Abnormality of the musculature
Muscular abnormality
0003011
Alopecia
Hair loss
0001596
Hypogonadism
Decreased activity of gonads
0000135
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Hypopigmented skin patches
Patchy loss of skin color
0001053
Percent of people who have these symptoms is not available through HPO
Abnormality of the respiratory system
0002086
Asplenia
Absent spleen
0001746
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Band keratopathy
0000585
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Chronic hepatitis
Chronic liver inflammation
0200123
Chronic mucocutaneous candidiasis
0002728
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Hyperthyroidism
Overactive thyroid
0000836
Hypothyroidism
Underactive thyroid
0000821
Iron deficiency anemia
0001891
Keratoconjunctivitis
0001096
Multifactorial inheritance
0001426
Seizure
0001250
Steatorrhea
Fat in feces
0002570
Tetany
Intermittent involuntary muscle spasm
0001281
Thymoma
0100522
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978

Cause

While the cause of polyglandular autoimmune syndrome type 2 is not fully understood, it usually results from an autoimmune reaction, probably triggered by a virus or other environmental antigen.[1][2] There is some evidence of an association between diabetes or hypothyroidism and congenital rubella infection. Other cases may result from immune stimulation caused by certain dietary proteins.[1] In general, there is an association with certain genes coding for proteins involved with the immune system, particularly of the major histocompatibility complex. For example, patients with APS-2 who are at risk for celiac disease generally have variants in DR3-DQ2 and DR4-DQ8, which also confer a risk of type 1 diabetes, autoimmune thyroid disease, and Addison’s disease.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune polyglandular syndrome type 2. Click on the link to view a sample search on this topic.

          References

          1. Sivarajah S. Polyglandular Autoimmune Syndrome, Type II. Medscape Reference. 2018; https://emedicine.medscape.com/article/124287-overview.
          2. Barker JM. Polyglandular Deficiency Syndromes. Merck Manual for Healthcare Professionals. January 2014; https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/polyglandular-deficiency-syndromes/polyglandular-deficiency-syndromes.
          3. Husebye ES, Anderson MS & Kämpe O. Autoimmune Polyendocrine Syndromes. N Engl J Med. March 22, 2018; 378(12):1132-1141. https://www.ncbi.nlm.nih.gov/pubmed/29562162.
          4. Autoimmune Polyendocrine Syndrome Type II. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/autoimmune-polyendocrine-syndrome-type-ii/. Accessed 12/28/2015.
          5. Adrenal Insufficiency and Addison's Disease. National Endocrine and Metabolic Diseases Information Service. May 2014; https://www.niddk.nih.gov/health-information/health-topics/endocrine/adrenal-insufficiency-addisons-disease/Pages/fact-sheet.aspx. Accessed 12/28/2015.
          6. Autoimmune Polyendocrine Syndrome, Type II; APS2. Online Mendelian Inheritance in Man (OMIM). May 12, 2014; https://omim.org/entry/269200. Accessed 12/28/2015.

          Rare Hematology News