Autoimmune lymphoproliferative syndrome (ALPS)

 

Overview

Dysregulation of lymphocytes (immune system cells) results in overproduction and subsequent enlargement of the lymph nodes, spleen, and liver. Those who have ALPS tend to be at a higher risk of developing cancers that affect the immune system, and other autoimmune diseases that damage blood cells. ALPS is typically a result of inherited mutations of the FAS gene or a non-inherited mutation of the lymphocyte cells. The FAS gene is responsible for programming cell death; when this does not occur normally, a surplus of lymphocytes results, which attack different parts of the body.

Common Symptoms

Rashes, panniculitis, arthritis, vasculitis, mouth sores, premature ovarian failure, neurological damage, splenomegaly, and chronic noninfectious lymphadenopathy.

Coexisting Diseases and Conditions

Autoimmune diseases including autoimmune hemolytic anemia, autoimmune thrombocytopenia (Evans syndrome), autoimmune neutropenia, glomerulonephritis, autoimmune hepatitis, uveitis, Guillain-Barré syndrome, or urticaria. Cancers also tend to co-exist with ALPS, including various forms of lymphoma or carcinomas.

Risk Factors and Prevalence

A family history – even if there is only one parent that passes down the mutated form of the FAS gene, the offspring can develop the condition.

Sources

  1. Article Sources and Footnotes

    1. Mayo Foundation for Medical Education and Research. (n.d.). Test ID: ALPS. ALPS – Clinical: Alpha Beta Double-Negative T Cells for Autoimmune Lymphoproliferative Syndrome, Blood. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/82449#:~:text=Autoimmune%20lymphoproliferative%20syndrome%20(ALPS)%20(,an%20increased%20susceptibility%20to%20malignancy

    2. U.S. National Library of Medicine. (2020, August 18). Autoimmune lymphoproliferative syndrome: MedlinePlus Genetics. MedlinePlus. https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/  

    3. U.S. Department of Health and Human Services. (2016, August 16). Autoimmune lymphoproliferative syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/8686/autoimmune-lymphoproliferative-syndrome 

    4. U.S. Department of Health and Human Services. (2019, April 19). Autoimmune Lymphoproliferative Syndrome (ALPS). National Institute of Allergy and Infectious Diseases. https://www.niaid.nih.gov/diseases-conditions/autoimmune-lymphoproliferative-syndrome-alps