Overview
LIPE-related familial partial lipodystrophy is a rare genetic condition caused by changes (mutations) in the LIPE gene. This gene provides instructions for making an enzyme called hormone-sensitive lipase, which plays an important role in breaking down stored fat in the body. When this enzyme does not work properly, fat tissue is lost from certain areas of the body, particularly the limbs and buttocks, while fat may build up in other areas such as the face, neck, or abdomen. This uneven distribution of body fat is the hallmark of partial lipodystrophy. People with this condition often develop serious metabolic problems. These can include insulin resistance (where the body does not respond well to insulin), type 2 diabetes, high levels of triglycerides and cholesterol in the blood, fatty liver disease, and inflammation of the pancreas. Some patients may also develop muscle problems and accumulation of fat within muscles. Women may experience irregular menstrual periods and polycystic ovary syndrome. There is currently no cure for LIPE-related familial partial lipodystrophy. Treatment focuses on managing the metabolic complications. This includes dietary modifications (especially limiting fat intake), medications to control diabetes and high blood lipids, and close monitoring for liver and pancreatic problems. In some cases, metreleptin (brand name Myalept) may be considered if leptin levels are low, though its use specifically for this subtype is still being studied. Early diagnosis and proactive management of metabolic complications are key to improving quality of life.
Also known as:
Key symptoms:
Loss of fat from the arms and legsLoss of fat from the buttocksExcess fat around the face, neck, or bellyInsulin resistance or type 2 diabetesHigh triglyceride levels in the bloodFatty liver diseaseInflammation of the pancreas (pancreatitis)Muscle weakness or muscle painFat buildup within musclesHigh cholesterolIrregular menstrual periods in womenPolycystic ovary syndromeDark, velvety skin patches (acanthosis nigricans)Enlarged liver
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for LIPE-related familial partial lipodystrophy.
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Specialists
View all specialists →No specialists are currently listed for LIPE-related familial partial lipodystrophy.
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 LIPE-related familial partial lipodystrophy.
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is my fat loss, and which areas of my body are most affected?,What are my current triglyceride, blood sugar, and liver function levels, and what do they mean?,Am I a candidate for metreleptin (Myalept) therapy?,What dietary changes should I make, and should I see a specialized dietitian?,How often should I have blood tests and imaging to monitor for complications?,Are my family members at risk, and should they be tested for LIPE mutations?,What signs of pancreatitis or other emergencies should I watch for?
Common questions about LIPE-related familial partial lipodystrophy
What is LIPE-related familial partial lipodystrophy?
LIPE-related familial partial lipodystrophy is a rare genetic condition caused by changes (mutations) in the LIPE gene. This gene provides instructions for making an enzyme called hormone-sensitive lipase, which plays an important role in breaking down stored fat in the body. When this enzyme does not work properly, fat tissue is lost from certain areas of the body, particularly the limbs and buttocks, while fat may build up in other areas such as the face, neck, or abdomen. This uneven distribution of body fat is the hallmark of partial lipodystrophy. People with this condition often develop
How is LIPE-related familial partial lipodystrophy inherited?
LIPE-related familial partial lipodystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does LIPE-related familial partial lipodystrophy typically begin?
Typical onset of LIPE-related familial partial lipodystrophy is adult. Age of onset can vary across affected individuals.