Living with PLIN1-related familial partial lipodystrophy
A rare genetic condition with loss of fat under the skin, mainly in the legs and buttocks, along with insulin and blood fat problems.
Understanding PLIN1-related familial partial lipodystrophy
It is caused by a defect in the PLIN1 gene. Common related features include insulin resistance, fatty liver, high blood fats, high blood pressure, darkened skin in the armpits (acanthosis nigricans) and larger leg muscles. It can begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of fat under the skin of the legs and buttocks
- Insulin-resistant diabetes
- High blood pressure
- Darkened, thickened skin (acanthosis nigricans)
- Larger calf muscles
- Scarring of the liver (hepatic fibrosis)
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 PLIN1 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 PLIN1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: fpld4; fpld4 - familial partial lipodystrophy type 4; lipodystrophy, familial partial, associated with plin1 mutations; perilipin 1 related familial partial lipodystrophy; plin1-related fpld
Patient organizations
- Lipodystrophy UnitedPLIN1-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 PLIN1-related familial partial lipodystrophy.
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