Living with CIDEC-related familial partial lipodystrophy
A rare genetic condition where fat is lost from the legs and hips but kept in other places, with diabetes and high blood fats.
Understanding CIDEC-related familial partial lipodystrophy
Fat under the skin of the legs, hips, and buttocks is absent, while belly, neck, and underarm fat is kept. Other features include darkened, thickened skin (acanthosis nigricans), insulin-resistant type 2 diabetes, high blood fats (dyslipidemia), and high blood pressure. These can lead to pancreatitis, an enlarged liver, and fatty liver. GARD lists onset in the teenage years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of fat under the skin in the limbs
- Darkened, thickened skin (acanthosis nigricans)
- Enlarged liver
- Larger calf and other muscles
- 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 CIDEC 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
GARD says changes in the CIDEC gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cell death inducing dffa like effector c-related familial partial lipodystrophy; cidec-related fpld; familial partial lipodystrophy 5; fpld5; fpld5 - familial partial lipodystrophy type 5; lipodystrophy, familial partial, associated with cidec mutations
Patient organizations
- Lipodystrophy UnitedCIDEC-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 CIDEC-related familial partial lipodystrophy.
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