Lipodystrophy: Identification, types, and diagnosis

 Lipodystrophy is a rare disorder that affects the body’s fat stores. There are different types, and each varies in its onset and presentation.

This article outlines the symptoms of lipodystrophy, as well as the types and their causes. It also looks at how doctors diagnose and treat lipodystrophy, and the outlook for people who have it.

Lipodystrophy is a disorder that affects how the body accumulates and stores fat. In a person with this condition, fat collects in certain areas, such as the torso, face, and neck, while the legs and arms have little to no fat.

In the most severe cases, the body has almost no fat tissue, and the person appears extremely thin and muscular.

The main symptom is total or nearly total loss of fat beneath the skin — either throughout the body or in certain areas. At the same time, there may be an accumulation of fatty tissue in areas such as the face, neck, and torso.

The type and extent of fat distribution depends on the type of lipodystrophy a person has.

The condition may also cause other symptoms and some complications. Metabolic complications are common. For example, a person may have increased hunger due to low levels of the hormone leptin, which makes a person feel full and ready to stop eating.

Other complications include reproductive issuesTrusted Source, such as reduced fertility, and irregular menstrual cycles.

There are several types of lipodystrophy:

Congenital generalized lipodystrophy

Congenital generalized lipodystrophy (CGL) is an inherited condition. It is present from birth, and infants begin losing weight a few weeksTrusted Source after birth.

Infants with CGL have almost no subcutaneous fat, which is the layer of fat beneath the skin. This causes their arms and legs to appear thin and muscular.

Familial partial lipodystrophy

Familial partial lipodystrophy (FPL) is also an inherited condition. People with this type often begin to lose fat tissue during puberty.

A person may progressively lose fat from their arms and legs. The body may store this around the face, neck, and abdomen.

Acquired generalized lipodystrophy

Other names for acquired generalized lipodystrophy are AGL and Lawrence syndrome. It develops during adolescence and has a similar presentation to CGL.

The condition is “acquired” because experts have not confirmedTrusted Source a genetic cause of it.

Acquired partial lipodystrophy

Acquired partial lipodystrophy (APL), or Barraquer-Simons syndrome, develops after birth.

The loss of fat usually occurs on the face, neck, and upper extremities. It does not usuallyTrusted Source affect the lower limbs.

High active antiretroviral therapy-induced lipodystrophy

High active antiretroviral therapy-induced lipodystrophy is a rare form that occurs in some people who take antiretroviral medication to treat HIV.

A person with this condition gradually loses fat from their arms, legs, and face. This does not reverse if the person stops taking antiretroviral medication.

Localized lipodystrophy

This usually affects people who have repeated daily injections, such as regular insulin injections to manage diabetes.

The loss of fat only occurs at the injection site, creating a small dimple or “crater.” Rotating the injection sites can help prevent localized lipodystrophy.

The following four genetic variantsTrusted Source can cause congenital lipodystrophy, and each has 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 levels
PTRFmuscle weakness and skeletal irregularities, gastrointestinal problems and irregularities, and cardiac arrhythmias

The acquired forms of lipodystrophy have no direct genetic cause. Many cases are idiopathic, meaning that they occur without any clear cause.

Researchers have hypothesized that autoimmune diseases may cause acquired lipodystrophy. Examples of autoimmune diseases that may lead to the condition include:

Experts do not know the exact cause of many cases of acquired lipodystrophy. Certain medications and autoimmune conditions may increase a person’s risk.

Related autoimmune conditions, beyond those listed just above, may include:

The following infections may also increase the risk of developing acquired lipodystrophy:

Learn more about HIV-related lipodystrophy here.

Doctors typicallyTrusted Source diagnose lipodystrophy by performing a physical exam and asking about symptoms. They may try to eliminate the possibility of other conditions, such as Cushing’s syndrome or anorexia.

The following diagnostic tests can help support the diagnosis and rule out other conditions:

  • genetic tests
  • tests to check blood chemical profiles
  • whole-body MRI to check for patterns of fat loss characteristic of acquired lipodystrophy
  • renal biopsy to check for kidney involvement in cases of suspected APL

Treating lipodystrophy may require different specialists and other healthcare professionals working together. The specialists may be:

  • endocrinologists
  • plastic surgeons
  • cardiologists
  • nutritionists
  • pediatricians

There is no cureTrusted Source for lipodystrophy, but some treatments can prolong a person’s life and improve their quality of life.

Many of these treatments focus on mitigating the conditions associated with lipodystrophy, such as:

Doctors recommendTrusted Source a balanced diet and regular exercise to help a person maintain a moderate weight. They may also prescribe medications called statins to help manage high cholesterol.

Metreleptin for lipodystrophy

In 2014Trusted Source, the Food and Drug Administration (FDA) approved a leptin replacement therapy called metreleptin to help treat generalized lipodystrophy. The treatment helps:

  • control appetite
  • reduce fatty liver deposits
  • normalize puberty in females

Metreleptin can have serious adverse effects, however. Some people have developed anti-metreleptin neutralizing antibodies after taking the medication. These may lead to infection and a loss of metabolic control. There is also a link between metreleptin and lymphoma.

Other side effects of metreleptin include:

  • headaches
  • low blood sugar
  • weight loss
  • abdominal pain

Metreleptin is only available under a restricted programTrusted Source. Doctors must carefully consider and discuss with each person the possible benefits and risks of this treatment

Lipodystrophy is a progressive condition that can cause serious complications, includingTrusted Source:

Although they have yet to establish a direct link, researchersTrusted Source have observed that people with lipodystrophy have an increased risk of early death.

Below are answers to some frequently asked questions about lipodystrophy.

What are some tips for managing lipodystrophy?

The National Organization for Rare Disorders (NORD) recommends a high carbohydrate, low fat diet to help prevent the accumulation of fatty droplets in the blood. This should help prevent episodes of acute pancreatitis in people with lipodystrophy.

Regular exercise also helps a person reach and maintain a healthy weight while reducing the risk of diabetes.

If there are large deposits of fat tissue, a person might speak with a doctor about having cosmetic surgery, such as liposuction. This could also help manage metabolic complications.

The NORD also says that people may benefit from counseling after a diagnosis of acquired lipodystrophy. A mental health professional or support group may be able to help deal with any anxiety or stress related to the diagnosis.

Where can I find a lipodystrophy support group?

Support groups are accessible online and sometimes in person. A healthcare professional may be able to connect a person with this type of group and other resources.

Also the following websites offer support, resources, and information:

  • RareConnect is a social media platform that connects people living with rare diseases, including lipodystrophy.
  • The Genetic and Rare Diseases Information Center helps people find resources, specialists, and information about clinical studies.
  • WeHealth connects people with certain conditions, including FPL, to resources, treatment, and support.

Lipodystrophy is a rare condition that causes a disproportionate distribution of fat in the body. A person may have very little or no fat on their arms or legs, and excess fat on their face, neck, or torso. Overall, the distribution depends on the type of lipodystrophy a person has.

Lipodystrophy may be genetic or acquired. Genetic types are present from birth, while acquired types develop later in life. There are several types of acquired lipodystrophy, and each may have a different cause. Possible causes include viral infections, autoimmune diseases, and the use of certain medications.

Anyone who may have lipodystrophy should see a doctor. Appropriate treatment can help manage the condition and reduce the risk of possible complications, such as insulin resistance, kidney damage, and fatty deposits in the liver.

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