Living with AKT2-related familial partial lipodystrophy
A rare inherited condition in adults with loss of fat tissue in the limbs, severe insulin resistance, and diabetes.
Understanding AKT2-related familial partial lipodystrophy
It begins in adulthood with loss of fat in the hands and feet or limbs (distal lipoatrophy). The body's liver and other tissues respond poorly to insulin, which causes high insulin levels and diabetes. Dark, thick skin patches (acanthosis nigricans) and high blood pressure have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Insulin resistance
- Diabetes
- Loss of healthy fat tissue (lipodystrophy)
- Dark, thick patches of skin (acanthosis nigricans)
- Enlarged liver
- Extra fat in the belly
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 AKT2 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 AKT2 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: akt serine/threonine kinase 2-related familial partial lipodystrophy; akt2-related fpld
Patient organizations
- Lipodystrophy UnitedAKT2-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 AKT2-related familial partial lipodystrophy.
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