A health condition that causes a partial or complete loss and/or abnormal distribution of adipose tissue in some parts of the body is called lipoatrophy. This disease is not curable. That’s why the treatment goal is to reduce the symptoms, prevent serious complications, and improve your quality of life.
Furthermore, doctors use this medical term (lipodystrophy) to describe a group of disorders that cause a partial or complete loss of fat tissue in certain parts of the body. All types of lipodystrophy are caused by genetic mutations or are acquired later in life.
Generally, this condition occurs rarely and usually occurs as an adverse reaction to certain medications.
Types of Lipodystrophy
Healthcare professionals have divided this disorder into 2 categories. These include genetic and acquired.
Genetic Lipodystrophy
- Congenital generalized lipodystrophy (CGL) – This genetic type of lipodystrophy is also known as Berardinelli-Seip syndrome, and it causes a near-total fat loss. Most of the time, CGL is present at birth (congenital), and it occurs due to a genetic change (mutation) that occurs during pregnancy.
- Familial partial lipodystrophy (FPLD) – This is an inherited disorder that is usually diagnosed during childhood. It often affects the legs and arms.
Acquired Lipodystrophy
These include:
- Acquired generalized lipodystrophy (AGL) – This type of lipodystrophy is sometimes called Lawrence syndrome, and it mostly causes fat loss in the face, neck, arms, and legs. While it may happen quickly in a few weeks, in some cases, it may take years to notice fat loss in the previous parts of the body. Commonly, it happens during childhood or adolescence, but may occur at any age.
- Acquired partial lipodystrophy (APL) – This condition is also known as Barraquer-Simons syndrome, and it causes a gradual loss of fat from the chest, arms, face, and neck during childhood. In some cases, people with APL may have excessive fat around their abdomen, legs, and buttocks. Frequently, APL is associated with autoimmune disorders.
- Highly active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV) – This type of lipodystrophy appears in people with HIV infection after administering antiretroviral medicines (including HIV-1 protease inhibitor-containing HAART). Most of the time, lipodystrophy is related to the intensity and duration of the treatment.
- Localized lipodystrophy – In such cases, the condition causes a total loss of fat in small areas of the body. Sometimes, it may occur at a common site for injection (including insulin injections). Mostly, localized lipodystrophy looks similar to a dimple or crater with overlying skin that often is not affected.
What is The Function of Adipose Tissue?
Typically, people have adipose tissue throughout the body (including beneath the skin and around the internal organs). This type of tissue has several important functions. Examples include:
- Providing insulation and cushioning for multiple parts of the body
- Releasing certain hormones (including Leptin)
- Moderating inflammation
- Storing calories used to produce energy
If this adipose tissue is missing or distributed improperly throughout the body, it may lead to changes in your appearance and negatively affect certain metabolic functions. It is not rare for people with lipodystrophy to develop diabetes or irregular cholesterol levels.
What Are The Symptoms of Lipodystrophy?
Usually, people with lipodystrophy experience different symptoms because they depend on several factors. These include the type and severity of the condition, existing health problems, age, and sex. While one of the most common symptoms is a noticeable and consistently reducing amount of fat in some parts of the body, it may also cause other symptoms. That’s why it is recommended to visit a doctor if you notice a lack or abnormal distribution of fat (especially in the arms and legs).
Genetic Lipodystrophy Causes
Usually, people develop genetic lipodystrophy due to changes in some genes. In general, a genetic change occurs when there is a mutation in a part of the DNA. Normally, DNA holds instructions that tell cells when to grow, multiply, and die. When a part of the DNA is damaged or missing, people begin to experience symptoms.
- CGL causes – Most people with CGL have a mutation in one of the following genes. These include AGPAT2, BSCL2, CAV1, and CAVIN1 genes. The previous genes play an important role in the development and function of adipocytes (the fat-storing cells in the adipose tissue). Children who develop CGL often inherit these mutated genes from their biological parents.
- FPLD causes – This type of genetic lipodystrophy can occur due to mutations in multiple genes (more commonly in the LMNA gene). LMNA and other genes are responsible for producing proteins that are involved in multiple functions, including important roles in fat storage and adipocytes. Most diagnosed FPLD cases are inherited in an autosomal dominant pattern. It means the affected person receives one copy of the mutated gene, which is enough to develop the condition. In rare cases, FPLD may occur due to new gene mutations. It happens in people without a family history of the disease.
Acquired Lipodystrophy Causes
This type of lipodystrophy can be caused by medicines, autoimmune reactions, or unknown reasons (also known as idiopathic). While acquired forms do not have a direct genetic basis, some healthcare professionals think they have a genetic predisposition for developing some types of acquired lipodystrophy. Check some AGL causes below:
- Chickenpox (varicella)
- Pertussis (whooping cough)
- Pneumonia
- Mononucleosis
- Osteomyelitis
- Diphtheria
- Measles
Not everyone who experiences the previous infections will develop lipodystrophy. Furthermore, there are some autoimmune disorders that are often associated with lipodystrophy. Examples include:
- Sjogren’s syndrome
- Autoimmune hemolytic anemia
- Rheumatoid arthritis
- Juvenile dermatomyositis
- Autoimmune hepatitis
- Autoimmune thyroiditis
Most of the time, doctors cannot identify what exactly causes AGL.
Acquired Partial Lipodystrophy Causes
According to some research, people develop APL (acquired partial lipodystrophy) when the immune system mistakenly attacks fat cells instead of viruses, bacteria, and other germs that can make you ill. Approximately 80% of people with APL have reduced levels of complement 3 (a protein factor that plays an important role in the body’s immune system response) in the blood. Moreover, people with this type of lipodystrophy have antibodies called complement 3-nephritic factor in the blood.
High Active Antiretroviral Therapy (HAART) Induced Lipodystrophy (LD-HIV) Causes
While experts are not sure about the cause of this form of lipodystrophy, they think it occurs in people with HIV infection who receive antiretroviral therapy (such as HIV-1 protease inhibitor-containing HAART). However, lipodystrophy is not a concern for people who begin HIV treatment because the risk of developing lipodystrophy with HIV medicines is low.
What Are The Potential Complications of Lipodystrophy?
People who develop this condition and leave it untreated may also experience some complications. Check some of them below:
- Hypertriglyceridemia (increased triglyceride levels)
- Pancreatitis
- Coronary artery disease
- Metabolic syndrome
- Diabetes
- Insulin resistance and hyperinsulinemia (increased insulin levels in the blood)
- Fatty liver disease (hepatic steatosis)
The previous list does not contain a full list of complications, but you can talk with your physician about ways to prevent them.
Is There a Way to Prevent Lipodystrophy?
While genetic forms of this condition cannot be prevented because they happen due to an abnormal gene that passes from one or both biological parents during pregnancy, some causes of acquired forms can be prevented. The only thing you can do is a genetic test to make sure you do not have mutated genes that cause lipodystrophy. In general, there are vaccines that may prevent some infections that cause lipodystrophy. However, if you have an autoimmune disorder, it cannot be prevented.
Diagnosis
Typically, physicians start the diagnosis of lipodystrophy with a physical examination in which they find irregularities linked to the disease. They may also ask some questions about your symptoms and medical history to gather more information about your disease. Moreover, there are some types of lipodystrophy that are difficult to diagnose because they cause symptoms similar to those of other health conditions. In any case, to confirm or rule out lipodystrophy, doctors will perform the following tests. Examples include:
- MRI (magnetic resonance imaging) scans – This is an imaging test used to get detailed images of the entire body (including internal organs). It also helps determine the composition and distribution of fat.
- Comprehensive metabolic panel – Doctors will perform blood tests to measure 14 different substances in the blood. They often look for blood sugar and liver enzymes.
- Lipid panel – This is also a blood test that measures the amount of lipids (fat molecules) in the blood.
- Leptin test – To measure leptin levels, doctors will also take a sample of blood. This is an important hormone that helps maintain a healthy weight.
- Genetic test – During this test, physicians will take a sample of blood for testing. They will look for abnormal genes that cause genetic forms of lipodystrophy.
- Kidney biopsy – During this procedure, doctors will remove a small sample of the kidney to examine it under a microscope.
Treatment
Physicians usually prescribe different treatments for people with lipodystrophy because they depend on several factors. For example, the type and severity of the condition, whether you experience complications, age, sex, and preferences. Check below for some common options often recommended by doctors:
- Leptin replacement medicine – Doctors usually prescribe Metreleptin for people with lipodystrophy. This is a synthetic form of Leptin that helps replace missing hormones.
- Diabetes and insulin resistance treatment – They often recommend oral medicines to treat diabetes and/or insulin resistance. For example, Thiazolidinediones, Sulfonylaureas, Pioglitazone, or Metformin. You should also regularly check your blood sugar.
- Medicines to regulate triglyceride and cholesterol levels – healthcare professionals often recommend statins (such as Pravastatin and Rosuvastatin) to regulate cholesterol levels in the body. Those who develop a severe form of hypertriglyceridemia may need fibric acid derivatives or n-3 polyunsaturated fatty acids supplementation from fish oils.
- Cosmetic surgery and other procedures – In some cases, people need reconstructive surgery in some parts of the body (including the face, chest, or pubic region).
Frequently Asked Questions
When should I see my healthcare provider about lipodystrophy?
People who notice a consistent decrease in fat in certain areas of the body should visit a doctor right away. It is also recommended to contact your healthcare professional if the treatment you are following does not work.
What are the symptoms of lipodystrophy?
People who develop this condition can notice visible body shape changes, severe metabolic problems, and hormonal imbalances. For more details, discuss it with your doctor.
What is the life expectancy of someone with lipodystrophy?
Typically, the life expectancy varies among people with lipodystrophy because it depends on several factors. These include the type and severity of the condition, overall health, and others. In general, people with lipodystrophy often have a shortened life expectancy (between the ages of 30 and 50) that is often caused by metabolic complications.
Can lipodystrophy affect children?
Some forms of lipodystrophy, particularly congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPLD), can affect children. Congenital forms are usually present at birth or become noticeable during early childhood. Early diagnosis and treatment are important to help reduce the risk of serious metabolic complications.
Is lipodystrophy the same as obesity?
No. Lipodystrophy is not the same as obesity. People with lipodystrophy have an abnormal loss or distribution of body fat rather than an excess of body fat. Despite appearing lean in some areas, many people with lipodystrophy develop insulin resistance, diabetes, fatty liver disease, and high triglyceride levels due to the body’s inability to properly store fat.
Can people with lipodystrophy have a normal weight?
Yes. Some people with lipodystrophy have a normal body weight or even appear muscular because they lack subcutaneous fat. However, they may still experience significant metabolic complications, including diabetes, abnormal cholesterol levels, and fatty liver disease. Therefore, body weight alone is not a reliable indicator of the severity of the condition.
What foods should people with lipodystrophy eat?
A healthy, balanced diet is an important part of managing lipodystrophy. Many healthcare providers recommend limiting foods high in saturated fat, added sugars, and refined carbohydrates while emphasizing vegetables, fruits, whole grains, lean protein, and healthy fats. Since nutritional needs vary from person to person, it is best to work with a registered dietitian or healthcare provider to develop an individualized meal plan.
Can regular exercise help manage lipodystrophy?
Yes. Regular physical activity can improve insulin sensitivity, help control blood sugar levels, reduce triglycerides, and support overall cardiovascular health. However, exercise alone cannot reverse the loss of adipose tissue. Before starting a new exercise program, people with lipodystrophy should consult their healthcare provider, especially if they have diabetes or heart disease.
Is lipodystrophy an autoimmune disease?
Not all forms of lipodystrophy are autoimmune. Genetic lipodystrophies are caused by inherited gene mutations, while some acquired forms—especially acquired partial lipodystrophy (APL) and some cases of acquired generalized lipodystrophy (AGL)—are associated with autoimmune diseases or abnormal immune system activity. In many acquired cases, the exact cause remains unknown.
Can lipodystrophy increase the risk of heart disease?
Lipodystrophy can increase the risk of cardiovascular disease because it is commonly associated with high triglyceride levels, insulin resistance, diabetes, and abnormal cholesterol levels. Managing these metabolic complications through lifestyle changes, regular medical follow-up, and appropriate medications can help reduce the risk of heart attack, stroke, and other cardiovascular problems. Ask your healthcare provider if you have any other questions.
