Overview
Acquired partial lipodystrophy (APL) is a rare condition where the body loses fat tissue from certain areas, most commonly the face, arms, and upper body, while fat may build up in the lower body, especially the hips and legs. Unlike some forms of lipodystrophy that people are born with, APL develops during a person's lifetime — usually in childhood or early adulthood. It is also known as Barraquer-Simons syndrome, named after the doctors who first described it. The loss of fat under the skin changes the way a person looks, which can be emotionally difficult. But APL also affects how the body handles fats and sugars in the blood, which can lead to serious health problems over time. Many people with APL develop high levels of fats called triglycerides in the blood, insulin resistance, and sometimes type 2 diabetes. A particularly important concern is kidney disease — a condition called membranoproliferative glomerulonephritis (MPGN) affects roughly a third of people with APL and can be serious if not caught early. There is no cure for APL, but treatments focus on managing complications like high blood fats, diabetes, and kidney problems. Some people also explore cosmetic options to address changes in their appearance. Regular monitoring by a team of specialists is key to staying as healthy as possible.
Key symptoms:
Gradual loss of fat from the face, giving a sunken or hollow appearanceLoss of fat from the arms, shoulders, and upper bodyUnusual buildup of fat in the hips, thighs, and lower bodyHigh levels of fats (triglycerides) in the bloodInsulin resistance or type 2 diabetesKidney problems, including protein in the urineLow levels of a blood protein called complement C3Fatigue and low energyChanges in skin appearance where fat has been lostSwelling in the legs or ankles if kidney disease develops
Clinical phenotype terms (17)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
6 eventsAmryt Pharma — PHASE4
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) — PHASE2
Amryt Pharma — PHASE3
Cambridge University Hospitals NHS Foundation Trust — NA
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Acquired partial lipodystrophy.
6 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Acquired partial lipodystrophy.
Community
No community posts yet. Be the first to share your experience with Acquired partial lipodystrophy.
Start the conversation →Latest news about Acquired partial lipodystrophy
Disease timeline:
New recruiting trial: Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New recruiting trial: Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New recruiting trial: Low Energy Diet and Familial Partial Lipodystrophy
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New recruiting trial: Tirzepatide for Partial Lipodystrophy Treatment: A New Horizon in 2024
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New recruiting trial: Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New recruiting trial: Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance
A new clinical trial is recruiting patients for Acquired partial lipodystrophy
New trial: Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance
Phase PHASE2 trial recruiting. Pegvisomant
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 tests do I need to check my kidneys, blood fats, and blood sugar, and how often should I have them?,Should I have genetic testing to confirm my diagnosis or rule out other types of lipodystrophy?,What dietary changes will help manage my triglyceride levels and reduce my risk of complications?,Are there any clinical trials or newer treatments I should know about?,What are the warning signs that my kidney function is getting worse, and when should I go to the emergency room?,Can you refer me to a lipodystrophy specialist or center with experience in this condition?,What support is available for the emotional and psychological effects of changes in my appearance?
Common questions about Acquired partial lipodystrophy
What is Acquired partial lipodystrophy?
Acquired partial lipodystrophy (APL) is a rare condition where the body loses fat tissue from certain areas, most commonly the face, arms, and upper body, while fat may build up in the lower body, especially the hips and legs. Unlike some forms of lipodystrophy that people are born with, APL develops during a person's lifetime — usually in childhood or early adulthood. It is also known as Barraquer-Simons syndrome, named after the doctors who first described it. The loss of fat under the skin changes the way a person looks, which can be emotionally difficult. But APL also affects how the body
How is Acquired partial lipodystrophy inherited?
Acquired partial lipodystrophy follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acquired partial lipodystrophy typically begin?
Typical onset of Acquired partial lipodystrophy is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Acquired partial lipodystrophy?
Yes — 6 recruiting clinical trials are currently listed for Acquired partial lipodystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Acquired partial lipodystrophy?
25 specialists and care centers treating Acquired partial lipodystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.