Lipodystrophy is an extremely rare disorder that affects the fat stores in the body. There are different types of lipodystrophy, which vary in their onset and presentation.

In this article, we look at the symptoms and causes of lipodystrophy, as well as the treatment options and when to see a doctor.

Lipodystrophy is a disorder that affects how a person’s body accumulates and stores fat. People with this disease collect fat on certain areas of the body, such as the torso, face, and neck, while the legs and arms carry little to no fat.

In the most extreme cases of lipodystrophy, the body holds almost zero fat tissue, and the person looks extremely thin and muscular.

Lipodystrophy may cause other symptoms and issues. Metabolic complications, including increased hunger due to low levels of leptin, the hormone that signals satiation to the body, are common. Other complications include reproductive issues, such as reduced fertility and irregular menstrual cycles.

There are five types of lipodystrophy:

Congenital generalized lipodystrophy

With congenital generalized lipodystrophy (CGL), a person is born with the disease and quickly starts losing weight a few weeks after birth. As infants, people with this condition hold almost zero subcutaneous (under the skin) fat and present with thin, muscular extremities.

Acquired generalized lipodystrophy

In acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome, the onset occurs during adolescence with a similar presentation to CGL.

Experts have not confirmed any genetic causes, which is why its name includes the word “acquired” — meaning that it develops after birth.

Acquired partial lipodystrophy

Acquired partial lipodystrophy (APL) also develops after birth. People sometimes refer to it as Barraquer-Simons syndrome.

The loss of fat usually occurs at the face, neck, and upper extremities. The condition does not usually affect the lower limbs.

High active antiretroviral therapy-induced lipodystrophy

High active antiretroviral therapy-induced lipodystrophy (LD-HIV) occurs in patients with HIV as a result of taking antiretroviral medication.

A person with LD-HIV gradually loses fat from their arms, legs, and face. This fat loss does not reverse when they stop taking antiretroviral medication.

Localized lipodystrophy

The localized form of lipodystrophy usually affects people who have repeated daily injections — for example, people with diabetes who require regular insulin injections. The loss of fat occurs only at the injection site, creating a small dimple or crater. Rotating the injection site can help prevent localized lipodystrophy.

Congenital lipodystrophy has genetic factors. Four gene variants can cause congenital lipodystrophy, with slightly different presentations:

GeneUnique features
AGPAT2loss of metabolically active fat
BSCL2generalized absence of all fat tissue
CAV1short stature, vitamin D resistance, low blood calcium, and low blood magnesium
PTRFmuscle weakness and skeletal abnormalities, gastrointestinal problems and abnormalities, and cardiac arrhythmias

The acquired forms of lipodystrophy do not have a direct genetic cause and may occur without any clear medical reason.

In the case of LD-HIV, antiretroviral medication is the cause of the condition. Other medications can also cause lipodystrophy.

Researchers have hypothesized that autoimmune diseases are a possible cause of lipodystrophy. Conditions such as lupus, celiac disease, pernicious anemia, and vasculitis are commonly associated with lipodystrophy. Lipodystrophy affects four times as many females as males — a ratio similar to that of other autoimmune issues.

However, many causes of lipodystrophy are idiopathic, meaning that no genetic factor, family history, medication, or disease seems to be the cause of the condition.

To diagnose lipodystrophy, a doctor will carry out a physical exam and ask the person about their other symptoms. They may try to eliminate the possibility of other conditions, such as Cushing’s syndrome or anorexia.

Lab tests, including blood chemical profiles and genetic testing, can also help identify lipodystrophy, but the diagnosis will primarily come from a clinical examination.

Although there is no cure for lipodystrophy, some treatments can prolong life and improve the quality of life.

Many of these treatments focus on mitigating the conditions associated with lipodystrophy, including diabetes, polycystic ovary syndrome (PCOS), and fatty liver disease.

Doctors recommend a healthful diet low in fat and a proper exercise regimen to help maintain a moderate weight. They might prescribe insulin and other drugs for insulin resistance to help with diabetes. Medications called statins, along with fish oil supplements, should help people control high cholesterol.

In 2014, the Food and Drug Administration (FDA) approved a leptin replacement therapy called metreleptin to help treat people with generalized lipodystrophy. The leptin replacement helps normalize puberty in females, decrease fatty liver deposits, and control appetite. Side effects of metreleptin include headaches, fatigue, weight loss, and stomach pain.

Lipodystrophy is a progressive condition that can cause serious complications, including multi-organ damage, fatty deposits in the liver, kidney damage, PCOS, and insulin resistance.

Although doctors are unable to find a direct link, researchers have noted that people with lipodystrophy are at increased risk of early mortality.

People with lipodystrophy will have disproportionate fat accumulation on the body. This rare condition has many different forms and can be genetic or acquired.

Anyone with concerns about lipodystrophy should speak to a doctor for a diagnosis.