Lipodystrophy: What It Is, Symptoms, Types & Treatment (2024)

What are the symptoms of lipodystrophy?

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.

What causes genetic forms of lipodystrophy?

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.

The cause of congenital generalized lipodystrophy (CGL)

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.

The cause of familial partial lipodystrophy (FPLD)

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.

What are the causes of acquired forms of lipodystrophy?

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.

Causes of acquired generalized lipodystrophy (AGL)

AGL may occur following an infection or autoimmune disease. Infections that have been associated with the development of AGL include:

  • Chickenpox (varicella).
  • Measles.
  • Whooping cough (pertussis).
  • Diphtheria.
  • Pneumonia.
  • Osteomyelitis.
  • Mononucleosis (mono).

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:

  • Autoimmune thyroiditis.
  • Autoimmune hepatitis.
  • Juvenile dermatomyositis.
  • Rheumatoid arthritis.
  • Sjogren’s syndrome.
  • Autoimmune hemolytic anemia.

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).

Causes of acquired partial lipodystrophy (APL)

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.

The cause of high active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV)

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.

Lipodystrophy: What It Is, Symptoms, Types & Treatment (2024)
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