Living with Familial partial lipodystrophy, Kobberling type
A rare form of partial lipodystrophy with fat loss only in the arms and legs and extra belly fat, so far reported only in women.
Understanding Familial partial lipodystrophy, Kobberling type
Fat on the face, neck and trunk is normal or a bit increased, with extra belly fat. This type has only been reported in women. Insulin resistance, high blood pressure, and high blood fats have been reported. It is listed as starting in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of fat in the arms and legs
- Insulin resistance
- Diabetes
- High blood pressure
- Enlarged liver
- Polycystic ovaries
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 NOTCH3 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
Inheritance seems to be autosomal dominant, but the exact cause is not known. The NOTCH3 gene is listed.
Also known as: familial partial lipodystrophy 1; familial partial lipodystrophy kobberling type; familial partial lipodystrophy type 1; familial partial lipodystrophy, köbberling type; fpld1
Patient organizations
- Lipodystrophy UnitedFamilial partial lipodystrophy, Kobberling 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, Kobberling type.
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