Living with Congenital generalized lipodystrophy
A rare condition with almost no body fat and a very muscular look, which affects blood sugar, blood fats and the liver.
Understanding Congenital generalized lipodystrophy
People look very muscular. Fat is stored in places like the liver and muscles instead, which causes health problems. Signs are usually seen from birth or early childhood. Common features include insulin resistance that can lead to diabetes, high triglycerides, a fatty and enlarged liver, and in some people thickened heart muscle.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Almost no body fat, with a muscular look
- Insulin resistance and diabetes
- High triglycerides (blood fats)
- Fatty, enlarged liver
- Pancreas inflammation (pancreatitis)
- Thickened heart muscle in some
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes it as a rare genetic condition within the group of lipodystrophies and doesn't list a specific gene here.
Also known as: beradinelli-seip syndrome; berardinelli's syndrome; congenital generalised lipodystrophy; congenital generalised lipodystrophy (disease); congenital generalized lipodystrophy (disease); congenital total lipodystrophy
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital generalized lipodystrophy.
Explore research for Congenital generalized lipodystrophy
Explore actively recruiting Congenital generalized lipodystrophy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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