Living with Congenital generalized lipodystrophy type 1
A rare genetic condition in which the body has very little fat from early infancy and has trouble using insulin.
Understanding Congenital generalized lipodystrophy type 1
People have very little fat from birth or early infancy, and their bodies have trouble using insulin. This can lead to high blood sugar and diabetes. Other symptoms include dark, thickened skin patches, an enlarged liver and high triglycerides in the blood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very little body fat
- Diabetes mellitus
- Dark, thickened skin patches (acanthosis nigricans)
- Enlarged liver
- Low leptin level
- High triglycerides
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 Lipodystrophy United
- 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
It is caused by changes in the AGPAT2 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: agpat2 congenital generalised lipodystrophy (disease); agpat2 congenital generalized lipodystrophy (disease); berardinelli-seip congenital lipodystrophy type 1; berardinelli-seip congenital lipodystrophy, type 1; brunzell syndrome agpat2-related; brunzell syndrome, agpat2-related
Patient organizations
- Lipodystrophy UnitedCongenital generalized lipodystrophy type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital generalized lipodystrophy type 1.
Explore research for Congenital generalized lipodystrophy type 1
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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