Living with Familial partial lipodystrophy, Dunnigan type
A rare genetic condition that changes where body fat is stored, starting around puberty and linked to the LMNA gene.
Understanding Familial partial lipodystrophy, Dunnigan type
Symptoms usually begin around puberty after normal fat in childhood. Fat is lost from the limbs, torso, buttocks and hips, and builds up in the face, neck and upper back. Metabolic problems develop in the teen or adult years. They may include insulin resistance, diabetes, high blood fats, pancreatitis, fatty liver and heart disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of fat under the skin of the limbs
- Insulin resistance and diabetes
- Round face
- Enlarged liver
- Yellow fatty bumps on the skin (xanthomas)
- Narrowing and hardening 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 LMNA 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 LMNA gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: dunnigan syndrome; familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy dunnigan type; familial partial lipodystrophy type 2; fpld2; lipodystrophy, familial, of limbs and lower trunk
Patient organizations
- Lipodystrophy UnitedFamilial partial lipodystrophy, Dunnigan type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial partial lipodystrophy, Dunnigan type.
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