Overview
Lipodystrophy due to peptidic growth factors deficiency is an extremely rare condition that belongs to a group of disorders called lipodystrophies, which are characterized by abnormal loss or absence of body fat (adipose tissue). In this specific form, the loss of fat tissue is linked to a deficiency in certain peptide growth factors — small proteins that normally help fat cells grow, survive, and function properly. Without adequate levels of these growth factors, the body cannot maintain normal fat stores. People with this condition may notice a partial or generalized loss of fat under the skin, which can change their physical appearance. Because fat tissue plays an important role in metabolism, the loss of fat can lead to serious metabolic problems including insulin resistance, diabetes, high levels of triglycerides (fats) in the blood, and fatty liver disease. These metabolic complications can affect the heart, liver, and other organs over time. Because this condition is so rare, treatment is largely supportive and focused on managing the metabolic complications. This may include dietary modifications, medications to control blood sugar and lipid levels, and in some cases, leptin replacement therapy if leptin deficiency is present. Close monitoring by a team of specialists is important to prevent long-term organ damage.
Also known as:
Key symptoms:
Loss of body fat under the skinVisible lack of fat in the face, arms, legs, or trunkProminent muscles and veins due to fat lossInsulin resistance or diabetesHigh triglyceride levels in the bloodEnlarged liver or fatty liver diseaseIncreased appetiteDark, velvety skin patches (acanthosis nigricans)Irregular menstrual periods in womenFatigueDifficulty gaining or maintaining weightJoint or muscle pain
Clinical phenotype terms (28)— hover any for plain English
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsUniversity of Michigan — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Lipodystrophy due to peptidic growth factors deficiency.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Lipodystrophy due to peptidic growth factors deficiency.
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 Lipodystrophy due to peptidic growth factors deficiency.
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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 specific growth factors are deficient in my case, and how were they measured?,Am I a candidate for leptin replacement therapy (metreleptin)?,How often should my blood sugar, triglycerides, and liver function be monitored?,What dietary plan do you recommend to manage my metabolic complications?,Are there any clinical trials or research studies I could participate in?,What signs or symptoms should prompt me to seek emergency care?,Should my family members be tested for this condition?
Common questions about Lipodystrophy due to peptidic growth factors deficiency
What is Lipodystrophy due to peptidic growth factors deficiency?
Lipodystrophy due to peptidic growth factors deficiency is an extremely rare condition that belongs to a group of disorders called lipodystrophies, which are characterized by abnormal loss or absence of body fat (adipose tissue). In this specific form, the loss of fat tissue is linked to a deficiency in certain peptide growth factors — small proteins that normally help fat cells grow, survive, and function properly. Without adequate levels of these growth factors, the body cannot maintain normal fat stores. People with this condition may notice a partial or generalized loss of fat under the s
Are there clinical trials for Lipodystrophy due to peptidic growth factors deficiency?
Yes — 2 recruiting clinical trials are currently listed for Lipodystrophy due to peptidic growth factors deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.