Overview
Hypothalamic adipsic hypernatraemia syndrome (also called adipsic hypernatremia or adipsia with hypernatremia) is a rare condition where the brain's thirst center stops working properly. Normally, a part of the brain called the hypothalamus tells you when you are thirsty and helps keep the right balance of salt and water in your body. In this syndrome, that signal is broken or missing, so people do not feel thirsty even when their body desperately needs water. This leads to a dangerous build-up of sodium (salt) in the blood, a condition called hypernatremia. The syndrome is usually caused by damage to the hypothalamus, which can happen due to a brain tumor (most often a craniopharyngioma), surgery or radiation to the brain, a head injury, or other conditions that affect that area of the brain. Some cases are linked to problems with the hormone vasopressin (also called ADH), which helps the kidneys hold onto water. The main symptoms include a complete or near-complete lack of thirst, very high sodium levels in the blood, extreme tiredness, confusion, and in severe cases, seizures or coma. Because people do not feel thirsty, they can become dangerously dehydrated without realizing it. Treatment focuses on carefully scheduled fluid intake throughout the day, close monitoring of blood sodium levels, and managing any underlying cause. There is no cure, but with careful daily management, many people can live relatively stable lives.
Key symptoms:
Little or no sense of thirst, even when severely dehydratedHigh sodium (salt) levels in the bloodExtreme tiredness and low energyConfusion or difficulty thinking clearlyHeadachesSeizures in severe casesMuscle weakness or crampsNausea or vomitingRapid heartbeatWeight changes due to fluid imbalanceProblems with other hormones from the pituitary gland (such as low cortisol or thyroid hormone)
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hypothalamic adipsic hypernatraemia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypothalamic adipsic hypernatraemia syndrome.
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 Hypothalamic adipsic hypernatraemia syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How much fluid should I drink each day, and how should I spread it out?,How often do I need blood tests to check my sodium levels, and what level should I be aiming for?,What are the warning signs that my sodium is too high or too low, and when should I go to the emergency room?,Do I also have diabetes insipidus or other hormone problems, and how will those be treated?,Are there any activities, foods, or situations I should avoid because they could upset my fluid balance?,What should I tell other doctors or emergency staff who may not be familiar with this condition?,Is there a patient support group or specialist center that has experience managing this syndrome?
Common questions about Hypothalamic adipsic hypernatraemia syndrome
What is Hypothalamic adipsic hypernatraemia syndrome?
Hypothalamic adipsic hypernatraemia syndrome (also called adipsic hypernatremia or adipsia with hypernatremia) is a rare condition where the brain's thirst center stops working properly. Normally, a part of the brain called the hypothalamus tells you when you are thirsty and helps keep the right balance of salt and water in your body. In this syndrome, that signal is broken or missing, so people do not feel thirsty even when their body desperately needs water. This leads to a dangerous build-up of sodium (salt) in the blood, a condition called hypernatremia. The syndrome is usually caused by
How is Hypothalamic adipsic hypernatraemia syndrome inherited?
Hypothalamic adipsic hypernatraemia syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.