Overview
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy is an extremely rare multi-system genetic disorder. As the name describes, this condition affects several parts of the body at once. Lipoatrophy means the loss of fat tissue under the skin, which can give the body an unusually lean or aged appearance. People with this condition also develop diabetes, which means the body has trouble controlling blood sugar levels. Leukomelanodermic papules are small skin bumps that show a mix of light and dark coloring. Liver steatosis, also known as fatty liver, means fat builds up in the liver and can affect how well it works. Hypertrophic cardiomyopathy means the heart muscle becomes abnormally thick, which can make it harder for the heart to pump blood effectively. Because this disease is so rare, there are very few reported cases in the medical literature. Treatment is mainly focused on managing each symptom individually — for example, controlling diabetes with medication, monitoring heart function with a cardiologist, and watching liver health. There is currently no cure or specific targeted therapy for this syndrome. Early diagnosis and coordinated care from multiple specialists are important to manage the various aspects of this complex condition.
Key symptoms:
Loss of body fat under the skin (lipoatrophy)Diabetes or high blood sugarSmall skin bumps with mixed light and dark coloringFatty liver diseaseThickened heart muscle (hypertrophic cardiomyopathy)Insulin resistanceAbnormal skin pigmentationPossible shortness of breath due to heart problemsFatiguePossible liver enlargementUnusual body shape due to fat loss
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy.
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Specialists
View all specialists →No specialists are currently listed for Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy.
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 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy.
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.How severe is the heart thickening, and how often should it be monitored?,What is the best plan for managing my diabetes in the context of this syndrome?,Are there any activity or exercise restrictions due to the heart condition?,Should my family members be tested for this condition?,What genetic testing would you recommend, and what can it tell us?,How should we monitor the liver, and are there dietary changes that can help?,Are there any clinical trials or research studies we could participate in?
Common questions about Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
What is Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy?
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy is an extremely rare multi-system genetic disorder. As the name describes, this condition affects several parts of the body at once. Lipoatrophy means the loss of fat tissue under the skin, which can give the body an unusually lean or aged appearance. People with this condition also develop diabetes, which means the body has trouble controlling blood sugar levels. Leukomelanodermic papules are small skin bumps that show a mix of light and dark coloring. Liver steatosis, also known as fatty li
How is Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy inherited?
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.