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Start free with EleplanPrimary lipodystrophy
ORPHA:90970Category
What it is
A heterogenous group of rare endocrine diseases characterized by a generalized or localized loss of adipose tissue (lipoatropy) associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis. In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance (acanthosis nigricans and signs of hyperandrogenism) are often present. It has both genetic and acquired forms.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- All ages
- Classified as
- Category
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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