Overview
Familial partial lipodystrophy, Köbberling type (also called Köbberling syndrome or FPLD1) is a rare inherited condition that affects how the body stores fat. In this condition, people lose fat tissue from their arms, legs, and buttocks — areas where fat would normally be found under the skin. At the same time, fat tends to build up in unusual places, such as 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. Because fat is not stored properly, the body struggles to manage blood sugar and cholesterol levels. Most people with this condition develop insulin resistance, type 2 diabetes, and very high triglyceride (blood fat) levels. These metabolic problems can lead to serious complications including fatty liver disease, pancreatitis (painful inflammation of the pancreas), and cardiovascular disease. Treatment focuses on managing these metabolic complications rather than curing the underlying condition. This includes a carefully controlled low-fat diet, medications to lower blood sugar and triglycerides, and close monitoring of heart and liver health. With proper management, many people can reduce their risk of serious complications, but lifelong medical care is needed.
Also known as:
Key symptoms:
Loss of fat under the skin on the arms, legs, and buttocksExcess fat buildup on the face, neck, and abdomenHigh blood sugar or type 2 diabetesVery high triglyceride (blood fat) levelsFatty liver diseaseInsulin resistance (the body does not respond well to insulin)Recurrent pancreatitis (severe stomach pain from pancreas inflammation)Low levels of HDL ('good') cholesterolIrregular menstrual periods or polycystic ovary syndrome (PCOS) in womenMuscle cramps or discomfort in the limbsAcanthosis nigricans (dark, velvety patches of skin, often in skin folds)Enlarged liver
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
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Familial partial lipodystrophy, Köbberling type.
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Specialists
View all specialists →No specialists are currently listed for Familial partial lipodystrophy, Köbberling type.
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 Familial partial lipodystrophy, Köbberling type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 certain are you that I have the Köbberling type of lipodystrophy, and what tests confirm this diagnosis?,Should I have genetic testing to rule out other types of lipodystrophy?,What specific diet should I follow, and should I work with a dietitian who specializes in metabolic conditions?,What are my triglyceride and blood sugar targets, and which medications do you recommend to reach them?,What are the early warning signs of pancreatitis, and what should I do if I experience them?,How often should I have my liver, heart, and metabolic labs checked?,Are there any clinical trials or newer treatments I should know about for this condition?
Common questions about Familial partial lipodystrophy, Köbberling type
What is Familial partial lipodystrophy, Köbberling type?
Familial partial lipodystrophy, Köbberling type (also called Köbberling syndrome or FPLD1) is a rare inherited condition that affects how the body stores fat. In this condition, people lose fat tissue from their arms, legs, and buttocks — areas where fat would normally be found under the skin. At the same time, fat tends to build up in unusual places, such as 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. Because fat is not stored properly, the body struggles to manage bloo
How is Familial partial lipodystrophy, Köbberling type inherited?
Familial partial lipodystrophy, Köbberling type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial partial lipodystrophy, Köbberling type typically begin?
Typical onset of Familial partial lipodystrophy, Köbberling type is adult. Age of onset can vary across affected individuals.