Living with PPARG-related familial partial lipodystrophy
A rare genetic condition starting in adulthood with fat loss in the arms and legs, extra fat in the face and trunk, and diabetes.
Understanding PPARG-related familial partial lipodystrophy
It starts in adulthood. People lose fat under the skin of the arms, legs and buttocks, and gain fat in the face, trunk and around organs. Related features can include diabetes, high blood fats, high blood pressure, heart disease, fatty liver, darkened skin patches, extra hair and larger leg muscles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fat loss in the limbs and buttocks
- Insulin resistance and diabetes
- High blood pressure
- Enlarged liver (fatty liver)
- Yellow fatty bumps on the skin (xanthomas)
- Hardening and narrowing of arteries
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
Specialists who may be involved include genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PPARG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- 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 and other patient organizations
- 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
Changes in the PPARG gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: familial partial lipodystrophy type 3; fpld3; fpld3 - familial partial lipodystrophy type 3; lipodystrophy, familial partial, associated with pparg mutations; peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy; pparg-related fpld
Patient organizations
- Lipodystrophy UnitedPPARG-related familial partial lipodystrophy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with PPARG-related familial partial lipodystrophy.
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