Rare Infectious Disease News

Disease Profile

Lupus

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Systemic lupus erythematosus; Disseminated lupus erythematosus; Lupus erythematosus;

Categories

Immune System Diseases

Summary

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]

Symptoms

You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).

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.

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

Treatment

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.

Organizations

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

      Learn more

      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.
      • 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.
      • Genetics Home Reference (GHR) contains information on Lupus. This website is maintained by the National Library of Medicine.
      • 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.

          References

          1. Handout on Health: Systemic Lupus Erythematosus. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). June, 2016; https://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; https://www.nlm.nih.gov/medlineplus/ency/article/000435.htm. Accessed 11/24/2010.

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