Lipodystrophy is a condition that’s characterized by a complete or partial loss of and/or abnormal distribution of adipose (fat) tissue in certain areas of your body. While there’s no cure for the condition, certain treatments can help with its symptoms and associated health conditions.
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).
The types of lipodystrophy affect people differently and have several different symptoms.
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:
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.
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There are several different types of lipodystrophy, which can be organized into two main categories: genetic and acquired.
The genetic forms of lipodystrophy include:
The acquired forms of lipodystrophy include:
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.
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.
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.
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.
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:
Not everyone with lipodystrophy will develop these conditions, and some people may have more mild or severe cases of them.
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.
As there are so many types of lipodystrophy, its symptoms vary widely.
The most common symptom of lipodystrophy is a noticeable and consistently decreasing amount of fat in some regions of your body with normal or comparatively excess amounts of fat in other regions of your body.
For example, people with acquired partial lipodystrophy (APL) typically have a gradual loss of fat from their face, neck, arms and chest during childhood. Some people with APL may have excess fat around their belly, legs or buttocks.
Depending on the type of lipodystrophy syndrome you have and your age, you may not experience noticeable health problems for years. Multiple types of lipodystrophy cause high levels of cholesterol, triglycerides and blood sugar (glucose), which your healthcare provider may discover from routine blood tests, such as a lipid panel and a basic metabolic panel.
Some types of lipodystrophy, especially partial lipodystrophies, can be difficult to detect. Because of this, it’s important to see your provider if you or your child are experiencing new or worsening symptoms at any time — no matter what the cause may be.
The genetic forms of lipodystrophy — congenital generalized lipodystrophy and familial partial lipodystrophy — are caused by certain genetic mutations (changes).
A genetic mutation is a change in a sequence of your DNA. Your DNA sequence gives your cells the information they need to perform their functions. If part of your DNA sequence isn’t complete or is damaged, you might experience symptoms of a genetic condition.
Mutations in the AGPAT2, BSCL2, CAV1 and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. These genes play important roles in the development and function of adipocytes, the fat-storing cells in your adipose tissue. Mutations of these genes affect the structure and function of adipocytes.
A child with CGL inherits the gene mutations from their biological parents. The parents each have each carry one copy of the mutated gene, but they typically don’t show signs and symptoms of the condition.
Familial partial lipodystrophy can be caused by mutations in several genes — most commonly, mutations in the LMNA gene.
LMNA and the other genes associated with FPLD provide instructions for making proteins with a variety of functions, including important roles in fat storage and adipocytes. Mutations in any of these genes negatively affect the development, structure or function of adipocytes.
Most cases of FPLD are inherited in an autosomal dominant pattern, which means one copy of the mutated gene in each cell is enough to cause the condition. In some cases, a person with FPLD inherits the mutation from one affected biological parent. Other cases result from new, random mutations in the gene and occur in people with no history of the condition in their family.
Acquired lipodystrophies can be caused by medications, autoimmune reactions or have an unknown cause (idiopathic). While acquired lipodystrophies don’t have a direct genetic basis, some researchers think that some people may have a genetic predisposition for developing certain forms of acquired lipodystrophy.
AGL may occur following an infection or autoimmune disease. Infections that have been associated with the development of AGL include:
If you’ve had any of these infections, it doesn’t necessarily mean that you’ll develop AGL.
Autoimmune conditions that have been linked to AGL include:
If you have any of these autoimmune conditions, it doesn’t necessarily mean that you’ll develop AGL.
In many cases, the cause of AGL is unknown (idiopathic).
Scientists believe APL is caused by your immune system mistakenly destroying fat cells. More than 80% of people with APL have low levels of complement 3, a protein factor that normally plays a role in your body’s immune system response, in their blood.
People with APL also often have an autoantibody in their blood called complement 3-nephritic factor. An autoantibody is an immune system protein that mistakenly targets and damages healthy tissue.
Scientists aren’t sure of the exact reason why antiretroviral therapy known as HIV-1 protease inhibitor-containing HAART causes lipodystrophy.
The good news is that lipodystrophy isn’t a concern for most people who start HIV treatment now because newer HIV medications are less likely to cause the condition.
If you have symptoms of lipodystrophy, your healthcare provider will perform a physical exam, ask detailed questions about your medical and family history, and order certain tests to confirm a diagnosis or rule out other possible causes of your symptoms.
Your provider may order several tests to help diagnose lipodystrophy and/or rule out other conditions that could be causing your symptoms. These tests could include:
The treatment and management of lipodystrophy depend on which specific type you have and if you have any associated conditions, such as diabetes or abnormal cholesterol levels.
Common management therapies for lipodystrophy include:
Scientists still have more to learn about how to treat and manage lipodystrophy. As they discover more about the complexities of metabolic processes, more treatment options will likely become available.
In most cases, lipodystrophy isn’t preventable.
You can’t prevent genetic forms of lipodystrophy because it’s the result of a genetic mutation that’s inherited. To understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing if you plan on becoming pregnant.
Acquired forms of lipodystrophy are often triggered by an infection or autoimmune condition. While some types of infection, such as chickenpox and whooping cough (pertussis), can be prevented with vaccinations, other infections that are associated with acquired lipodystrophy and autoimmune conditions aren’t preventable.
The prognosis (outlook) for lipodystrophy greatly depends on what type of lipodystrophy you have and if you have any associated conditions or complications, such as diabetes or liver or kidney issues.
Cosmetic correction of areas of fat deficiency and fat excess is associated with improved quality of life in people with lipodystrophy.
If you or your child has been diagnosed with lipodystrophy, talk to your healthcare provider about what you can expect and how you can best manage the condition.
If you’re noticing a consistent decrease of fat in specific areas of your or your child’s body and/or an increase of fat in certain areas, talk to your healthcare provider.
If you or your child have been diagnosed with lipodystrophy, you’ll need to see your healthcare team regularly to make sure your treatment is working well for you.
A note from Cleveland Clinic
Lipodystrophy is a rare but serious condition. While there’s no cure for it, certain treatments can manage its symptoms and associated conditions, such as diabetes and abnormal cholesterol levels. Treatment is very individualized, so your healthcare team will work with you to come up with the best plan for you. Don’t be afraid to ask your provider questions. They’re there to help.
Last reviewed by a Cleveland Clinic medical professional on 06/22/2022.
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