Lipodystrophy is a condition in which the amount and/or distribution of adipose tissue (fat tissue) in the body is abnormal. Different types of lipodystrophy cause loss or re-distribution of fat tissue in different patterns. Adipose tissue is very important because it stores the energy (calories) that we consume as triglyceride (a type of fat). It makes hormones which help control how much you eat and how your body burns energy. In people with lipodystrophy the ability of adipose tissue to store energy from the diet as a type of fat called triglyceride is reduced involving either the entire body or just certain areas like arms and legs. The body must find another organ in which to store this fat. The storage of fat in other organs is known as ‘ectopic fat’. The liver, muscle and pancreas are the organs that most often store ectopic fat. Ectopic fat may cause several metabolic complications including diabetes with severe insulin resistance (reduced ability to respond to insulin), high blood triglyceride-levels, fatty liver disease and liver inflammation, and subfertility. These complications impact on the health of those affected. The severity of these metabolic problems are often related to the extent of fat loss. Lipodystrophy illustrates the critical role of adipose tissue in maintenance of metabolic homeostasis (energy balance in the body).
Lipodystrophy is a rare disease. Worldwide, the reported prevalence is 4.7 cases per million, but this is probably an underestimate. It is most frequently diagnosed in females. However, it is unlikely that lipodystrophy affects more females than males, rather it is more easily diagnosed in females where changes in adipose tissue distribution are more obvious.
There are a variety of known causes of lipodystrophy. These may be inherited (genetic) or acquired.
People affected with lipodystrophy present to medical attention in a variety of ways.
Causes/Forms of Lipodystrophy
Many but not all forms of lipodystrophy are inherited. These can cause either generalised loss of fat (Congenital Generalised Lipodystrophy or CGL) or partial loss of fat (Familial Partial Lipodystrophy or FPLD). Based on the clinical findings and family history, some patients affected by lipodystrophy will undergo genetic testing. It is important to understand if the cause of lipodystrophy is genetic as this has implications for other family members, and family screening may be offered.
Currently there is no specific treatment that will permanently replace adipose tissue.
The reduced amount of adipose tissue and its impact on appearance is distressing to some people. In certain cases, cosmetic interventions and surgery have been used. The best approach to cosmetic surgery in lipodystrophy has not been formally studied.
The main treatment focus in lipodystrophy is on a low fat or low energy diet. The aim of dietary therapy is to reduce the amount of ectopic fat in organs which contributes to insulin resistance and the development of metabolic complications of lipodystrophy. Dietary intervention can produce major improvements in many of the established complications that are associated with ectopic fat such as insulin resistance, high blood fat and liver inflammation.
In certain types of lipodystrophy Leptin replacement therapy may be prescribed. Leptin is a hormone which is made by adipocytes (fat cells). Leptin regulates appetite. In patients affected by lipodystrophy leptin levels can be low due to the reduced number of adipocytes and when this happens it may increase appetite. Increased appetite and excess food intake will have a negative effect on metabolism. In such cases Leptin therapy can reduce appetite and improve some of the metabolic complications of the condition. It is most often used in cases of generalised lipodystrophy where there is a near absence of fat.
As a chronic condition and one that is appearance altering, lipodystrophy can be associated with psychological distress. Some patients may benefit from accessing a variety of psychological support services.
Where specific complications arise such as diabetes and high triglycerides in the blood, medical therapy specific to those conditions may be recommended. It is not uncommon for lipodystrophy patients with diabetes to require high doses of insulin, in that instance concentrated forms of insulin therapy or sometimes insulin pump therapy may be needed. All of these medical interventions are prescribed in conjunction with low energy/low fat diet.
Among patients with partial lipodystrophy and metabolic complications that are not adequately controlled using conventional therapy, metabolic surgery, specifically has been used effectively. Roux-en-Y gastric bypass reduces the size of the upper stomach and thus supports weight loss. In addition, it improves general metabolic problems like reduction of high blood sugar levels and amelioration of insulin sensitivity in muscles, liver and fat tissues.
Medical therapy is tailored to the individual who will be counselled on the benefits and potential side effects of any treatments recommended.
Lipodystrophy is a lifelong medical condition; the implications vary between patients and usually are related to the extent of adipose tissue loss.
The metabolic complications that are seen in those affected by lipodystrophy include diabetes, increased triglyceride levels and fatty liver disease.
We know that these complications (diabetes and high triglycerides) are associated with an increased risk of heart disease and stroke and in the case of fatty liver disease there is a risk of liver scarring and cirrhosis. Preventing the development of these complications though early diagnosis of lipodystrophy or the early recognition of complications as they develop is important so that the correct treatment and follow-up can be implemented reducing the risk to the health of those affected.
Lipodystrophy is not only a chronic condition that requires long-term medical follow-up but it is also an appearance altering condition. Many people who are affected with lipodystrophy can experience psychological and emotional distress.
The National Severe Insulin Resistance Service is a specialised NHS service for people with lipodystrophy and/or other forms of severe insulin resistance. The service is based at Addenbrookes Hospital in Cambridge. You can contact the service directly or ask your GP or other specialist teams to refer you for consideration for an appointment.
Last reviewed: Oct 2019