Lipodystrophy

What is lipodystrophy?

Lipodystrophy is a general term for a group of conditions that are characterized by a complete (generalized) or partial loss of fat tissue (adipose tissue) in certain areas of your body and/or abnormal distribution of fat tissue.

There are multiple types of lipodystrophy, which may be either genetic (caused by a genetic mutation) or acquired (caused by another condition).

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The types of lipodystrophy affect people differently and have several different symptoms.

What is the function of adipose tissue?

You have adipose tissue (fat tissue) throughout your body, including beneath your skin and around your internal organs. Adipose tissue serves many important functions, including:

• Storing calories for energy.
• Providing cushioning for various parts of your body.
• Providing insulation (keeping your body warm).
• Releasing certain hormones, such as leptin.
• Moderating inflammation.

A loss and/or redistribution of body fat due to lipodystrophy can cause significant changes in your appearance, but it also affects certain important metabolic functions in your body. Many people with lipodystrophy develop diabetes and have irregular cholesterol levels.

What are the types of lipodystrophy?

There are several different types of lipodystrophy, which can be organized into two main categories: genetic and acquired.

Genetic forms of lipodystrophy

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The genetic forms of lipodystrophy include:

• Congenital generalized lipodystrophy (CGL): Congenital generalized lipodystrophy (also called Berardinelli-Seip syndrome) is a rare type of lipodystrophy with significant and sometimes near-total fat loss. This condition is caused by a genetic mutation (change) that you’re born with. It’s often diagnosed within the first year of life.
• Familial partial lipodystrophy (FPLD): Familial partial lipodystrophy is also genetic (inherited). It’s often diagnosed later in a child’s life. Fat loss mainly affects a child’s legs and arms with excess fat in their face and neck.

Acquired forms of lipodystrophy

The acquired forms of lipodystrophy include:

• Acquired generalized lipodystrophy (AGL): Acquired generalized lipodystrophy (also called Lawrence syndrome) usually results in fat loss in your face, neck, arms and legs. Fat loss associated with AGL may occur rapidly over a few weeks or slowly over several months or even years. It usually develops during childhood or adolescence but can occur at any age. AGL has multiple possible causes.
• Acquired partial lipodystrophy (APL): Acquired partial lipodystrophy (also called Barraquer-Simons syndrome), is characterized by gradual loss of fat from your face, neck, arms and chest during childhood. Some people with APL may carry excess fat around their abdomen (belly), legs or buttocks. APL is often associated with autoimmune conditions.
• High active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV): This form of lipodystrophy occurs in people with human immunodeficiency virus (HIV) after receiving antiretroviral therapy known as HIV-1 protease inhibitor-containing HAART. The development of lipodystrophy is related to the intensity and length of treatment. In most cases, people with LD-HIV gradually lose fat from their arms, legs and face. Some people may develop excess fat in their face, neck, upper back and waist.
• Localized lipodystrophy: This form of lipodystrophy results in fat loss in a small area of your body only. It may result at a common site for medication injection (such as insulin injections). Localized lipodystrophy looks like a dimple or crater with the overlying skin usually unaffected.

What is the difference between lipodystrophy and lipoatrophy?

Lipodystrophy is the general term for abnormal distribution of fat. It involves lipoatrophy, which is the loss of fat.

Some scientists and healthcare providers use both of these terms to describe the same condition.

Who does lipodystrophy affect?

Most forms of lipodystrophy begin in childhood, but acquired forms of lipodystrophy can develop in adults as well.

Acquired forms of lipodystrophy more commonly affect women and people assigned female at birth (AFAB) than men and people assigned male at birth (AMAB), except for high active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV). As HIV more commonly affects people AMAB, LD-HIV is also more common in people AMAB.

How common is lipodystrophy?

In general, lipodystrophy conditions are rare, but acquired (developed later in life) forms of lipodystrophy have become more common due to side effects of certain medications.

How does lipodystrophy affect my body?

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Each type of lipodystrophy affects your body differently. The two main aspects of lipodystrophy that typically affect anyone with the condition include the loss of adipose tissue and a lack of the hormone leptin.

The effects of adipose tissue loss on your body

Adipose tissue (body fat) is made up of cells called adipocytes. Each adipocyte has a lipid droplet that accounts for approximately 90% of its cell volume. An adipocyte stores fats (triglycerides) within its lipid droplet. Lipodystrophy causes damage to adipose tissue, which prevents proper fat storage.

In some cases of lipodystrophy, your body improperly stores the fat lost from your adipose tissue in other tissue of your body, such as your liver, pancreas and/or skeletal muscle. This can lead to certain health conditions, including:

• Fatty liver disease (hepatic steatosis).
• Insulin resistance and hyperinsulinemia (higher-than-normal insulin levels).
• Diabetes.
• Hypertriglyceridemia (elevated triglyceride levels).
• Pancreatitis.
• Metabolic syndrome.
• Coronary artery disease.

Not everyone with lipodystrophy will develop these conditions, and some people may have more mild or severe cases of them.

The effects of leptin deficiency on your body

In people with lipodystrophy, a loss of adipose tissue (body fat) leads to a lack of certain hormones — in particular, leptin.

Leptin is a hormone your adipose tissue releases that helps your body maintain your normal weight on a long-term basis. It does this by regulating hunger by providing the sensation of satiety (feeling full). Scientists are still studying leptin, and they believe it also affects your metabolism, endocrine system regulation and immune system function.

People with lipodystrophy often have a decrease in leptin levels, which can cause extreme hunger, insulin resistance and other health conditions.

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