Overview
PPARG-related familial partial lipodystrophy (also called Familial Partial Lipodystrophy type 3, or FPLD3) is a rare inherited condition caused by changes in the PPARG gene. This gene gives instructions for making a protein called PPAR-gamma, which plays a key role in how the body stores fat and responds to insulin. When this gene does not work properly, fat is lost from certain parts of the body — especially the arms, legs, and buttocks — while fat may build up in other areas like the face, neck, and belly. This uneven fat distribution is the hallmark of the disease. Because PPAR-gamma also controls how the body handles sugar and fats in the blood, people with this condition often develop serious metabolic problems. These include severe insulin resistance, type 2 diabetes, very high triglyceride levels, and fatty liver disease. These problems usually become more noticeable in adulthood, though some signs may appear earlier, especially in women during puberty or pregnancy. There is no cure for FPLD3, but treatments can help manage the metabolic complications. Lifestyle changes like a low-fat diet and regular exercise are important. Medications used for diabetes and high triglycerides are commonly prescribed. In some cases, metformin or thiazolidinediones (a class of diabetes drugs) may be used, though thiazolidinediones are sometimes avoided because they target the very protein that is faulty in this disease. Metreleptin, a leptin replacement therapy, has been used in some lipodystrophy patients and may be an option in certain cases. Regular monitoring by a specialist team is essential to prevent serious complications.
Key symptoms:
Loss of fat under the skin in the arms, legs, and buttocksExcess fat buildup in the face, neck, and abdomenType 2 diabetes or very high blood sugarVery high triglyceride levels in the bloodFatty liver disease (non-alcoholic fatty liver disease or NASH)Insulin resistance — the body does not respond well to insulinPolycystic ovary syndrome (PCOS) in womenIrregular or absent menstrual periodsPancreatitis (painful inflammation of the pancreas) due to very high triglyceridesHigh blood pressureMuscle cramps or weaknessAcanthosis nigricans — dark, velvety patches of skin, often in skin folds
Clinical phenotype terms (36)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for PPARG-related familial partial lipodystrophy.
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Specialists
View all specialists →No specialists are currently listed for PPARG-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 PPARG-related familial partial lipodystrophy.
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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.What specific change was found in my PPARG gene, and what does it mean for my health?,Should my family members be tested for this condition?,What diet and exercise plan is best for managing my triglycerides and blood sugar?,Am I a candidate for metreleptin (Myalept) therapy?,How often should I have blood tests and imaging to monitor my liver and heart health?,What are the warning signs of pancreatitis, and what should I do if they occur?,If I am planning a pregnancy, what special monitoring or precautions do I need?
Common questions about PPARG-related familial partial lipodystrophy
What is PPARG-related familial partial lipodystrophy?
PPARG-related familial partial lipodystrophy (also called Familial Partial Lipodystrophy type 3, or FPLD3) is a rare inherited condition caused by changes in the PPARG gene. This gene gives instructions for making a protein called PPAR-gamma, which plays a key role in how the body stores fat and responds to insulin. When this gene does not work properly, fat is lost from certain parts of the body — especially the arms, legs, and buttocks — while fat may build up in other areas like the face, neck, and belly. This uneven fat distribution is the hallmark of the disease. Because PPAR-gamma also
How is PPARG-related familial partial lipodystrophy inherited?
PPARG-related familial partial lipodystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PPARG-related familial partial lipodystrophy typically begin?
Typical onset of PPARG-related familial partial lipodystrophy is adult. Age of onset can vary across affected individuals.