What are lipodystrophies?

Lipodystrophies are a group of diseases characterized by the loss of adipose tissue. A classification can be made according to their etiology, as they can be congenital (or familiar) or acquired, or according to their anatomical location, as they can be generalised, partial, or localised. Based on their causes, they can be congenital (genetic) or acquired.

Familial lipodystrophies are very infrequent and extremely rare, with an estimated prevalence of 1:200,000 - 1:1,500.00, which means that they are difficult to diagnose correctly and, consequently, to treat adequately and efficiently. A characteristic common to most lipodystrophies is the predisposition to suffer from diabetes mellitus, dyslipidemia (usually hypertriglyceridemia) and cardiovascular diseases.

The therapeutic approach of lipodystrophies involves two aspects: on the one hand, the prevention and treatment of associated metabolic and cardiovascular disorders; and on the other hand, the cosmetic treatment of what is produced by the loss and/or accumulation of adipose tissue.

The types of lipodystrophy that we can find are the following:

  • Berardinelli-Seip syndrome
    - Subtype II. Celia encephalopathy
  • Lawreance syndrome
  • Partial Family Lipodystrophy

  • Barraquer Simons syndrome

  • Candle syndrome

  • Hutchinson-Gilford progeria syndrome

  • Mandibular-Acral dysplasia

  • Atypical progeria syndromes

  • Neonatal progeria syndromes

  • Néstor-Guillermo progeria syndrome

For more information:   https://www.lipodystrophy.eu/en

Please visit our European Lipodystrophy Consortium

Download the Lipodystrophy Diagnosis and Treatment Guide   


Do you want to know more about Lipodystrophies?

Read the report Lipodystrophy: A Rare Challenge

This report aims to drive positive change for people with partial or generalised lipodystrophy across Europe. With input from seven leading European health professionals specialising in lipodystrophy and four patient associations in Europe, the report provides a series of recommendations aimed at improving patient care.

The recommendations include specific actions in four main areas:

Increase awareness of the disease among professionals most likely to care for patients with lipodystrophy: diabetologists, gynaecologists, endocrinologists, internists, cardiologists, paediatricians and nurses.
Emphasise the importance of early referral to a referral centre.
Considering patients' needs in a broad sense
Encourage recognition that medical innovations in the field of ultra-rare diseases have a higher value.


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