Living with LIPE-related familial partial lipodystrophy
A rare inherited condition in which body fat is unevenly spread, with fat buildup in some areas and loss in the legs.
Understanding LIPE-related familial partial lipodystrophy
Extra fat builds up in the face, neck, shoulders, armpits, trunk, and pubic area, while fat is lost from the legs. Other common features may include muscle weakness (myopathy) that gets worse in adulthood, insulin resistance, diabetes, high triglycerides, fatty liver, and vitiligo. It usually starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Body doesn't respond well to insulin (insulin resistance)
- Uneven fat distribution (lipodystrophy)
- Extra fat around the neck
- Loss of fat under the skin in the limbs
- Darkened, thickened skin (acanthosis nigricans)
- Low leptin and adiponectin levels
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 LIPE 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
It is caused by changes in the LIPE gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: familial partial lipodystrophy 6; familial partial lipodystrophy associated with lipe mutations; fpld6; fpld6 - familial partial lipodystrophy type 6; lipase e, hormone sensitive type-related familial partial lipodystrophy; lipe-related fpld
Patient organizations
- Lipodystrophy UnitedLIPE-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 LIPE-related familial partial lipodystrophy.
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