Familial lipodystrophy

Lipodystrophy is a general term to describe a range of conditions where there is a complete or partial loss of the cells that store fat immediately beneath the skin.

This leads to changes in the normal distribution of fat around the body. The cells that normally store fat are collectively referred to as adipose tissue.

Familial partial lipodystrophy is a condition which is characterised by partial loss of adipose tissue in some parts of the body, and accumulation of adipose tissue (and fat) in other parts.

People with familial partial lipodystrophy often have normal body fat distribution during infancy and early childhood. However, during or after puberty, they develop progressive loss of fat in the limbs, abdomen and chest. Many people with familial lipodystrophy (particularly women) have accumulation of fat in the face, neck and deep inside the abdomen.

Signs and symptoms

The symptoms, severity and outcomes of lipodystrophy can vary from person to person and are largely dependent upon the cause of the condition. In some people the effects may only be cosmetic and in others they can be life threatening. Common signs and symptoms include:

• high levels of triglycerides and chylomicrons circulating in the blood
• loss of or re-distribution of fatty tissue around the body
• accumulation of fat within the abdominal organs
• glucose intolerance – a difficulty in processing sugars in the blood caused by insulin resistance
• type 2 diabetes
• Pancreatitis – a painful condition caused by inflammation of the pancreas and which can be life threatening and usually requires hospital admission
• Polycystic ovary syndrome (PCOS); an imbalance in the sex hormones (in women) that can lead to irregularities in menstruation and the production and release of eggs

It is thought that about 1 in 50,000 people are affected, so in total this is about 10,000 people across Europe.