Overview
AKT2-related familial partial lipodystrophy (also called FPLD type 6 or Familial Partial Lipodystrophy due to AKT2 mutations) is a rare inherited condition that affects how the body stores fat. In this disease, fat is lost from certain parts of the body — especially the arms, legs, and buttocks — while it may build up in other areas like the face, neck, and belly. This uneven fat distribution is not just a cosmetic issue; it causes serious problems with how the body handles sugar and fat in the blood. People with this condition almost always develop insulin resistance, which means the body cannot use insulin properly. This leads to type 2 diabetes, often at a young age, and high levels of fats called triglycerides in the blood. High triglycerides can cause a dangerous inflammation of the pancreas called pancreatitis. Many people also develop fatty liver disease, high blood pressure, and polycystic ovary syndrome (PCOS) in women. Treatment focuses on managing blood sugar, cholesterol, and triglyceride levels through a combination of diet, exercise, and medications. Metformin and other diabetes drugs are commonly used. Some patients benefit from metreleptin (a leptin replacement therapy), which is approved in some countries for lipodystrophy. There is currently no cure, but careful management can greatly reduce the risk of serious complications.
Also known as:
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 sugar, often at a young ageVery high triglyceride (blood fat) levelsFatty liver disease (liver enlarged with fat)Insulin resistance (body does not respond well to insulin)High blood pressurePolycystic ovary syndrome (PCOS) in womenIrregular or absent menstrual periods in womenPancreatitis (painful inflammation of the pancreas) from high triglyceridesMuscle cramps or unusual muscle appearance due to visible muscle definition from fat lossDark, velvety skin patches (acanthosis nigricans) from insulin resistance
Clinical phenotype terms (12)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventMYALEPT: FDA approved
Adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableMYALEPT
Adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.
Clinical Trials
View all trials with filters →No actively recruiting trials found for AKT2-related familial partial lipodystrophy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for AKT2-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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to AKT2-related familial partial lipodystrophy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 are my target blood sugar and triglyceride levels, and how will we track them?,Am I a candidate for metreleptin therapy, and how do I access it?,What type of diet is best for my specific situation, and can I see a dietitian?,What are the early warning signs of pancreatitis, and what should I do if I think I am having an episode?,Should my family members be tested for the AKT2 gene mutation?,How often do I need imaging or blood tests to monitor my liver and heart health?,Are there any clinical trials I might be eligible for?
Common questions about AKT2-related familial partial lipodystrophy
What is AKT2-related familial partial lipodystrophy?
AKT2-related familial partial lipodystrophy (also called FPLD type 6 or Familial Partial Lipodystrophy due to AKT2 mutations) is a rare inherited condition that affects how the body stores fat. In this disease, fat is lost from certain parts of the body — especially the arms, legs, and buttocks — while it may build up in other areas like the face, neck, and belly. This uneven fat distribution is not just a cosmetic issue; it causes serious problems with how the body handles sugar and fat in the blood. People with this condition almost always develop insulin resistance, which means the body ca
How is AKT2-related familial partial lipodystrophy inherited?
AKT2-related familial partial lipodystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.