National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lupus

Información en español

Not a rare disease Not a rare disease
Other Names:
Systemic lupus erythematosus; Disseminated lupus erythematosus; Lupus erythematosus; Systemic lupus erythematosus; Disseminated lupus erythematosus; Lupus erythematosus; Discoid lupus; Subacute cutaneous lupus; SLE See More
Categories:
Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three main types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus.[1] Symptoms may include pain or swelling in joints, muscle pain, fever, red rashes, most often on the face (also called the "butterfly rash"), hair loss, chest pain, sensitivity to the sun, swelling in legs or around the eyes, and feeling tired.[2] Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. Studies suggest that a number of different genes may be involved in determining a person’s likelihood of developing the disease, which tissues and organs are affected, and the severity of disease. Lupus is more common in young women. The treatment of lupus depends on the severity of the condition and what parts of the body are affected. Treatment may include acetaminophen, ibuprofen, antimalarial drugs, anti-inflammatory steroids, immunosuppressive drugs, and other such as BLyS-specific inhibitors (Belimumab).[1]
Last updated: 8/9/2017
You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
Last updated: 8/26/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 15 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Antinuclear antibody positivity 0003493
Antiphospholipid antibody positivity 0003613
Arthritis
Joint inflammation
0001369
Autosomal dominant inheritance 0000006
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Hemolytic anemia 0001878
Leukopenia
Decreased blood leukocyte number
Low white blood cell count
[ more ] 		0001882
Malar rash 0025300
Nephritis
Kidney inflammation
0000123
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Psychosis 0000709
Seizure 0001250
Systemic lupus erythematosus 0002725
Thrombocytopenia
Low platelet count
0001873
Showing of 15 |
Last updated: 7/1/2020
The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics.

Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professionals but can be useful to anyone looking for detailed information. You may have to register to view the article, but registration is free.
Last updated: 8/26/2015
For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus.
Last updated: 8/26/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Lupus. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The International Consortium on the Genetics of Systemic Lupus Erythematosus was formed in 2004 and is composed of lupus genetics researchers who have agreed to pool their knowledge and resources to search for genes that predispose to lupus.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Lupus. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Lupus:
    National Research Registry for Neonatal Lupus (RRNL)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.
  • The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Academy of Dermatology has developed an information page on lupus and the skin. Click on the link above to view the information page.
  • Genetics Home Reference (GHR) contains information on Lupus. This website is maintained by the National Library of Medicine.
  • The American Association for Clinical Chemistry has an information page on ANA (Antinuclear Antibody Test) which is used to test for Lupus. Click on the link above to view the information page.
  • The Lupus Foundation of America has an information page on lupus and antiphospholipid antibodies. Click on Lupus Foundation of America to view the information page.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The KidsHealth's Web site has information on lupus for children. Click on KidsHealth to view the information page.
  • The Nemours Foundation's TeenHealth Web site has information on lupus for teens. Click on Nemours Foundation TeenHealth to view the information page.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lupus. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Handout on Health: Systemic Lupus Erythematosus. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). June, 2016; http://www.niams.nih.gov/Health_Info/Lupus/default.asp.
  2. Lupus. Medline Plus. https://medlineplus.gov/lupus.html.
  3. Borigini MJ. Systemic lupus erythematosus. MedlinePlus. February 7, 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000435.htm. Accessed 11/24/2010.