Lupus Genetic Testing

Systemic lupus erythematosus, more commonly known as lupus, is a chronic autoimmune disease that causes the immune system to attack healthy tissues in multiple organ systems.

More than 1.5 million people in the United States suffer from lupus, and more than 90 percent of them are women. Lupus is prevalent in women ages 15 to 44 who have African, Hispanic, Asian or American Indian backgrounds.

Lupus Symptoms

Symptoms of lupus vary on an individual basis. Some patients experience severe symptoms, while others may not even notice changes in their health. In addition, lupus symptoms can range through a variety of conditions and go through periods of activity and remission.

Some of the most commonly reported symptoms of lupus include:

  • arthritis
  • fatigue
  • kidney problems
  • memory loss
  • skin rashes
  • unexplained fevers.

More than forty percent of patients with lupus experience malar rash, a butterfly-shaped rash that covers the nose and cheeks.

What Causes Lupus

The cause of lupus remains unknown. However, researchers have concluded that genetics, hormones and environmental factors all play important roles in the development of the disease.

Since lupus is prevalent within certain ethnic groups, researchers believe lupus is heavily influenced by genetics. Children who have a parent with lupus have a five percent risk of developing the disease later in their lives.

Because lupus affects more women than men, researchers also believe the female hormone estrogen may contribute to the development of the disease.

In addition to hormones and genetics, environmental factors can increase the risk of a person developing lupus. Researchers believe that ultraviolet light, infections, and certain drugs related to the development of lupus. Patients who have high risks of developing the disease are recommended to avoid these environmental factors in order to prevent the progression of lupus.

Genetics of Systemic Lupus

While lupus causes are still being researched, many researchers have discovered a link between genetics and lupus. Researchers have found a “lupus signature,” which consists of fourteen genes that they believe contribute to the development of the disease. Also known as the interferon expression signature (IFN), these genes are proteins that contribute to the regulation of the immune system.

Additionally, research suggests a defect could cause leftover dead cells to trigger production of autoantibodies, which then attack healthy cells.

Researchers are performing ongoing studies on lupus’ relation to T cells and B cells, white blood cells that control the immune system.

Lupus Diagnosis

Because symptoms vary for each person, diagnosing lupus can be a long, difficult process. However, thanks to advancements in the medical field, doctors are able to recognize the disease with various tests.

One of the most commonly used tests for lupus is the anti-nuclear antibody test (ANA). The ANA test checks for high levels of ANA, or the autoantibodies reacting against the nucleus of cells. Patients who exhibit high levels of ANA often suffer from lupus or other autoimmune diseases.

Treating Lupus

Although there is no cure for lupus, there are a variety of treatment options that help patients lead healthy, happy lives.

Most lupus patients experience success with anti-inflammatory medications or corticosteroids. Others may need anti-malarials, one of the most commonly prescribed medications for lupus.

As advancements in the medical field continue, there are many new developments for the treatment of lupus. Researchers are testing hormone modification treatments, immunosuppressive drugs and new biologics to help treat lupus patients more successfully.


LabTestsOnlineAU (2007). Systemic lupus erythematosus. Retrieved November 11, 2008, from the LabTestsOnlineAU Web site: