Autoimmune hypoparathyroidism

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Overview

Autoimmune hypoparathyroidism is a rare condition where the body's immune system mistakenly attacks the parathyroid glands — four tiny glands in the neck that control calcium and phosphorus levels in the blood. When these glands are damaged, they stop making enough parathyroid hormone (PTH), which leads to low calcium levels (a condition called hypocalcemia) and high phosphorus levels. This throws off the delicate balance your body needs to keep muscles, nerves, and bones working properly. The most common symptoms include muscle cramps, spasms, and a tingling or numbness feeling — especially in the hands, feet, and around the mouth. In more serious cases, people can have seizures or dangerous muscle spasms called tetany. Some people also experience anxiety, brain fog, fatigue, and mood changes because the brain is very sensitive to low calcium. This condition is sometimes called autoimmune parathyroid failure or immune-mediated hypoparathyroidism. It can occur on its own or as part of a broader autoimmune syndrome, most notably Autoimmune Polyendocrine Syndrome Type 1 (APS-1), also known as APECED. Treatment focuses on replacing calcium and vitamin D to keep blood calcium levels in a safe range. Most people can manage their symptoms well with the right treatment, though lifelong monitoring is needed.

Key symptoms:

Muscle cramps or spasms, especially in the hands and feetTingling or numbness around the mouth, fingers, and toesSeizuresPainful muscle contractions called tetanyFatigue and low energyAnxiety, depression, or mood changesBrain fog or difficulty concentratingDry skin, brittle nails, and coarse hairCataracts (clouding of the eye lens) in long-standing casesAbnormal calcium deposits in the brain (basal ganglia calcifications)Heart rhythm problems in severe casesDental problems such as weak or poorly formed teeth

Clinical phenotype terms (38)— hover any for plain English
Autoimmune hypoparathyroidismHP:0011771HyperphosphatemiaHP:0002905Decreased circulating parathyroid hormone levelHP:0031817Chvostek signHP:0031990HypoesthesiaHP:0033748Trousseau signHP:6000919Prolonged QT intervalHP:0001657
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autoimmune hypoparathyroidism.

View clinical trials →

No actively recruiting trials found for Autoimmune hypoparathyroidism at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Autoimmune hypoparathyroidism community →

Specialists

3 foundView all specialists →
PM
Paul Szabolcs, MD
Pittsburgh, Pennsylvania
Specialist

Rare Disease Specialist

PI on 7 active trials
JM
Jesse Pasternak, MD, MPHc
SAN FRANCISCO, CA
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Autoimmune hypoparathyroidism.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Autoimmune hypoparathyroidism

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.What calcium and vitamin D doses do I need, and how often should I adjust them?,Should I be tested for Autoimmune Polyendocrine Syndrome Type 1 (APS-1) or other autoimmune conditions?,Am I a candidate for parathyroid hormone replacement therapy like Natpara?,How often do I need blood and urine tests, and what levels should I aim for?,What are the signs that my calcium is too low or too high, and when should I go to the emergency room?,How will this condition affect my kidneys long-term, and how can I protect them?,Are there any dietary changes or supplements I should avoid that could interfere with my treatment?

Common questions about Autoimmune hypoparathyroidism

What is Autoimmune hypoparathyroidism?

Autoimmune hypoparathyroidism is a rare condition where the body's immune system mistakenly attacks the parathyroid glands — four tiny glands in the neck that control calcium and phosphorus levels in the blood. When these glands are damaged, they stop making enough parathyroid hormone (PTH), which leads to low calcium levels (a condition called hypocalcemia) and high phosphorus levels. This throws off the delicate balance your body needs to keep muscles, nerves, and bones working properly. The most common symptoms include muscle cramps, spasms, and a tingling or numbness feeling — especially

Which specialists treat Autoimmune hypoparathyroidism?

3 specialists and care centers treating Autoimmune hypoparathyroidism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.