Overview
Obesity due to congenital leptin deficiency is a very rare genetic condition where the body cannot make enough of a hormone called leptin. Leptin is sometimes called the 'satiety hormone' because it tells your brain when you have eaten enough and helps control how much energy your body stores as fat. Without leptin, the brain never receives the signal to stop eating, which leads to severe, uncontrollable hunger starting in early infancy and rapid, extreme weight gain. This condition is also sometimes called congenital leptin deficiency or CLD. Children with this condition feel constantly hungry no matter how much they eat. This is not a matter of willpower — the brain is simply not receiving the chemical message it needs. Beyond obesity, leptin deficiency also affects the immune system, making infections harder to fight off, and it delays puberty and normal sexual development. Some children may also have problems with how their body handles blood sugar. The good news is that this condition has a specific, highly effective treatment. A medication called metreleptin (a man-made form of leptin) can be given by injection and dramatically reduces hunger, leads to significant weight loss, and improves many of the other health problems caused by leptin deficiency. With early diagnosis and treatment, people with this condition can live much healthier lives.
Key symptoms:
Severe, constant hunger that cannot be satisfiedRapid and extreme weight gain starting in the first few months of lifeSevere obesity in early childhoodDelayed or absent pubertyUnderdeveloped reproductive organsFrequent infections due to a weakened immune systemHigh levels of insulin in the blood (hyperinsulinemia)Abnormal blood fat levelsLow levels of leptin detectable in blood testsBehavioral problems related to food-seekingReduced thyroid hormone levels in some cases
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Obesity due to congenital leptin deficiency.
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Specialists
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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
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Caregiver Resources
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Family & Caregiver Grants
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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.Is metreleptin available and covered by insurance or our healthcare system, and how do we access it?,How soon after starting metreleptin can we expect to see changes in hunger and weight?,What monitoring tests will my child need regularly, and how often?,Should other family members, including siblings and parents, be tested for the LEP gene change?,What should we do if my child gets a serious infection?,Will my child be able to go through puberty normally with treatment, and what should we watch for?,Are there any clinical trials or research studies we should know about?
Common questions about Obesity due to congenital leptin deficiency
What is Obesity due to congenital leptin deficiency?
Obesity due to congenital leptin deficiency is a very rare genetic condition where the body cannot make enough of a hormone called leptin. Leptin is sometimes called the 'satiety hormone' because it tells your brain when you have eaten enough and helps control how much energy your body stores as fat. Without leptin, the brain never receives the signal to stop eating, which leads to severe, uncontrollable hunger starting in early infancy and rapid, extreme weight gain. This condition is also sometimes called congenital leptin deficiency or CLD. Children with this condition feel constantly hung
How is Obesity due to congenital leptin deficiency inherited?
Obesity due to congenital leptin deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Obesity due to congenital leptin deficiency typically begin?
Typical onset of Obesity due to congenital leptin deficiency is infantile. Age of onset can vary across affected individuals.