Lipodystrophy: Symptoms, Causes & Treatment

Lipodystrophy is a rare syndrome that affects how fat is stored in the body. It can cause an increase, decrease, or complete loss of fat in certain areas.

Symptoms may include fat buildup in the abdomen or back of the neck, lack of breast tissue, or increased muscle definition. These changes can affect both the face and body.

Lipodystrophy is often linked to antiretroviral treatment for HIV. However, it can also be caused by genetic factors, insulin injections, corticosteroid use, or autoimmune diseases.

Treatment for lipodystrophy depends on the type, fat distribution, and underlying cause. A primary care provider or endocrinologist may recommend lifestyle changes, medication, or, in some cases, liposuction or fat grafting.

Main symptoms

The main symptoms of lipodystrophy include:

• Fat accumulation in the abdomen, back of the neck, neck, face, or lips

• Breast enlargement in men or women

• Reduced breast tissue or loss of fat in the hips or buttocks in women

• Increased muscle definition in the arms and legs

• Prominent veins

Depending on the type of lipodystrophy, individuals may also develop insulin resistance, diabetes, high cholesterol, fatty liver disease, bone abnormalities, or cardiovascular disease.

Lipodystrophy symptoms can vary from person to person depending on the cause. A person may have increased fat, reduced fat, or no fat in certain areas, as well as changes in facial or body appearance, which can lead to anxiety or even depression.

Confirming a diagnosis

Lipodystrophy is diagnosed through a physical exam performed by a primary care provider or endocrinologist, who evaluates the pattern of fat distribution in the body.

The provider will also review the person’s health history, including medication use and any chronic diseases, and may assess body mass index (BMI) and order tests such as a metabolic panel, lipid profile, X-ray, bone density scan, or MRI.

Genetic testing may also be ordered to identify mutations in genes associated with lipodystrophy.

Possible causes

The main causes of lipodystrophy are:

• Genetic factors

• Treatment with antiretroviral medications for HIV

• Use of insulin or corticosteroids

• Infections such as chickenpox, diphtheria, osteomyelitis, and mononucleosis

In addition, autoimmune diseases such as scleroderma, autoimmune hepatitis, rheumatoid arthritis, dermatomyositis, and autoimmune thyroiditis can also cause lipodystrophy.

Main types

The main types of lipodystrophy are:

1. Congenital generalized lipodystrophy

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is caused by mutations in genes such as AGPAT2, BSCL2, CAV1, and CAVIN1. These mutations affect the structure and function of fat cells, called adipocytes.

This type of lipodystrophy is present from birth. It is characterized by fat loss throughout the body, increased muscle definition due to fat accumulation in the muscles, and metabolic changes such as insulin resistance and high cholesterol.

2. Familial partial lipodystrophy

Familial partial lipodystrophy is caused by mutations in the LMNA gene and is characterized by fat loss that begins around puberty.

This type of lipodystrophy causes progressive fat loss in the legs and arms, as well as fat buildup in the abdomen, neck, and face.

In addition, a person may develop metabolic complications such as increased visceral fat, dyslipidemia, fatty liver disease, insulin resistance, diabetes, and, in some cases, muscular dystrophy.

3. Acquired lipodystrophy

Acquired lipodystrophy may result from autoimmune diseases, certain medications, or infections. In some cases, no cause is identified, and it is classified as idiopathic lipodystrophy.

This type of lipodystrophy can cause generalized or partial fat loss. It may cause mild metabolic complications or no metabolic complications, such as glomerulonephritis, hematuria (blood in the urine), proteinuria (protein in the urine), or kidney failure.

4. HAART-induced lipodystrophy

HAART-induced lipodystrophy, or highly active antiretroviral therapy-induced lipodystrophy, is a type of acquired lipodystrophy caused by the use of highly active antiretroviral medications, such as protease inhibitors and older antiretrovirals.

This type of lipodystrophy causes fat loss in the face, arms, and legs, and increased fat in the trunk.

5. Insulin-induced lipodystrophy

Insulin-induced lipodystrophy is caused by insulin use in people with type 1 diabetes.

This type of lipodystrophy can cause fat loss only in the area where insulin is injected. For this reason, it is recommended to rotate injection sites with each application.

Treatment options

The main goal of lipodystrophy treatment is to prevent other health conditions. To do this, the doctor may recommend lifestyle changes, such as regular physical activity and a healthy, balanced diet, as well as medications such as metformin and statins, for example.

According to FDA-approved prescribing information, metreleptin may be used along with diet to treat complications of leptin deficiency in people with congenital or acquired generalized lipodystrophy. In some cases, the doctor may recommend liposuction when there is excess fat buildup.