Autoimmune polyglandular syndrome type 1, better known simply as APS-1, is a genetic disorder that affects your immune system. APS-1 goes by another name – autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy – because of how it affects the body. For simplicity, we’ll refer to this condition as APS-1.
Because APS-1 affects your autoimmune system, it has a detrimental effect on many different organs and parts of your body. It’s a genetic condition that’s inherited at birth and results in your immune system attacking itself and damaging various organs and tissues. Unfortunately, there’s no cure for APS-1, and it’s a chronic condition that infected people will deal with for their entire lives. However, early diagnosis and certain treatments can improve the quality of life and reduce the potential for life-threatening symptoms.
APS-1 is a complicated, autoimmune condition that affects the body in many ways. There are three main symptoms, and most people who have APS-1 will have at least two of those three symptoms.
These are the three main symptoms of APS-1 and will result in frequent infections, hormone deficiencies, and more. Additionally, these symptoms will lead to further complications, resulting in more symptoms as the condition progresses.
Eventually, APS-1 will lead to serious, chronic conditions that could prove fatal if they’re left untreated. This includes liver failure, debilitating digestive issues, problems with the ovaries or testes, and extreme fatigue.
APS-1 is a genetic condition that afflicted individuals have from the moment they’re born. APS-1 is caused by genetic mutations, specifically a mutation in the AIRE gene, which is responsible for regulating some of your immune functions. Because of this genetic mutation, your immune system confuses its own organs and tissues for foreign invaders and attacks them.
While APS-1 always results from mutations to the AIRE gene, it’s not fully known what causes this mutation to occur. However, APS-1 seems to occur more frequently in people of Iranian, Jewish, Eastern European, and Sardinian descent. In order for a child to have APS-1, both parents have to be carriers of the mutated gene.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
Currently, there isn’t any one specific test that can be used to diagnose APS-1. Instead, your doctor will use a combination of tests and methods to confirm whether or not you have APS-1.
The indicative symptoms of APS-1 are deficiencies in your adrenal and parathyroid glands. Your doctor will perform tests to check for hormone deficiencies, which is a sign of APS-1.
Certain imaging tests, such as an endoscopy and CT scan, will provide an inside look at your organs, specifically your liver. If they’re damaged, and you’re exhibiting other symptoms of APS-1, it could confirm a diagnosis.
Finally, antibody testing can confirm if you have a surplus or deficiency of certain antibodies.
Unfortunately, there’s no cure for APS-1, and doctors will instead treat each condition as it pops up. It’s a chronic condition that will eventually prove fatal. However, treatment and management can improve your quality and length of life and slow the progression of the disease.
Certain treatments will include hormone therapy to replenish your lost hormones, fungal treatment to treat skin infections, and vitamin administration to replenish calcium, Vitamin D, and other vitamin deficiencies. Additional treatments will vary from person to person according to their symptoms.