Overview
Autoimmune polyendocrinopathy, also known as autoimmune polyendocrine syndrome (APS) or polyglandular autoimmune syndrome, is a group of rare conditions in which the body's immune system mistakenly attacks multiple hormone-producing glands. There are several types. Type 1 (APS-1), also called APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), typically begins in childhood and is caused by mutations in the AIRE gene. It classically involves chronic yeast infections of the skin and mouth (mucocutaneous candidiasis), underactive parathyroid glands (hypoparathyroidism), and underactive adrenal glands (Addison disease). Type 2 (APS-2), also called Schmidt syndrome, is more common and usually appears in adulthood. It involves Addison disease along with autoimmune thyroid disease and/or type 1 diabetes. The immune system gradually damages these glands, leading to hormone deficiencies that affect many body functions including energy, blood sugar, calcium levels, and metabolism. Symptoms vary widely depending on which glands are affected and can develop over many years. Patients may experience extreme fatigue, muscle cramps, low blood pressure, weight changes, and recurrent infections. Treatment focuses on replacing the missing hormones with medications taken daily. While there is no cure, with proper hormone replacement therapy and regular monitoring, many patients can lead full and active lives. Early diagnosis and ongoing care from a team of specialists are essential to prevent life-threatening complications such as adrenal crisis.
Also known as:
Key symptoms:
Chronic yeast infections of the mouth, skin, or nailsExtreme fatigue and weaknessMuscle cramps or tingling in hands and feetLow blood pressure or dizziness upon standingDarkening of the skinUnexplained weight lossNausea, vomiting, or abdominal painIncreased thirst and frequent urinationSensitivity to coldHair loss or patchy baldnessDry skin or brittle nailsDifficulty with fertility or irregular periodsSeizures from low calcium levelsRecurrent infectionsMood changes or depression
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsQueen Mary University of London
VA Office of Research and Development — NA
Radiopharm Theranostics, Ltd — PHASE1, PHASE2
RISE Collaborative — NA
National Institute of Allergy and Infectious Diseases (NIAID) — PHASE2
Northwestern University
Massachusetts General Hospital
Milton S. Hershey Medical Center — PHASE1, PHASE2
Suleyman Demirel University
Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autoimmune polyendocrinopathy.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autoimmune polyendocrinopathy.
Community
No community posts yet. Be the first to share your experience with Autoimmune polyendocrinopathy.
Start the conversation →Latest news about Autoimmune polyendocrinopathy
Disease timeline:
New recruiting trial: Anti-inflammatory Drugs and Serum Prostate-Specific Antigen Test
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Hybrid Intelligence for Trustable Diagnosis and Patient Management of Prostate Cancer (HIT-PIRADS)
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Pathological Positivity Rate in Prostate Cancer Patients with PI-RADS 4 and First Negative Biopsy
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Flotufolastat F 18 PET in Men With Very Low PSA Recurrence
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: The Effect of IBD Flares on Serum PSA
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: SRT in Combination With Pembrolizumab in Patients With Recurrent Prostate Cancer After Radical Prostatectomy
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Impact of Anti-inflammatory Medications in Patients With Elevated Serum Prostate-specific Antigen
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Talazoparib Plus Enzalutamide After Progression to Abiraterone in Metastatic Prostate Cancer: (TEAM PC)
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Safety and Efficacy of AGN-INM176 in Prostate Patients With Rising PSA
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
New recruiting trial: Determination of Prostate-specific Antigen in Capillary Blood (PSA-Cap)
A new clinical trial is recruiting patients for Autoimmune polyendocrinopathy
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which of my glands are currently affected, and which ones should we monitor for future problems?,What are the signs of an adrenal crisis, and how do I use the emergency hydrocortisone injection?,How often do I need blood tests to check my hormone levels?,What are the sick day rules for adjusting my steroid medication during illness or stress?,Should my family members be tested for this condition or related autoimmune diseases?,Are there any clinical trials or new treatments I should know about?,How can I manage the fatigue that persists even with hormone replacement?
Common questions about Autoimmune polyendocrinopathy
What is Autoimmune polyendocrinopathy?
Autoimmune polyendocrinopathy, also known as autoimmune polyendocrine syndrome (APS) or polyglandular autoimmune syndrome, is a group of rare conditions in which the body's immune system mistakenly attacks multiple hormone-producing glands. There are several types. Type 1 (APS-1), also called APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), typically begins in childhood and is caused by mutations in the AIRE gene. It classically involves chronic yeast infections of the skin and mouth (mucocutaneous candidiasis), underactive parathyroid glands (hypoparathyroidism), and u
Are there clinical trials for Autoimmune polyendocrinopathy?
Yes — 4 recruiting clinical trials are currently listed for Autoimmune polyendocrinopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autoimmune polyendocrinopathy?
15 specialists and care centers treating Autoimmune polyendocrinopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.