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Autoimmune Lymphoproliferative Syndrome (ALPS)
Wednesday, 25 June 2003
Tuesday, 23 November 2004
Canale-Smith Syndrome


Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disease in which an individual’s own immune system cells cause the destruction of platelets, red blood cells, and other cells in the body. First identified in 1990 at the National Institute of Health (NIH), the disease was not named ALPS until 1995.


ALPS is an inherited genetic disease, meaning that a defective gene has passed from one parent to the child. Occasionally, the gene can be defective in the child alone. Many people with ALPS have a family history of autoimmune problems, but not all do. Any race or ethnicity can be affected.

Signs and Symptoms

Children who have ALPS are susceptible to autoimmune problems, particularly involving blood cells. As a result, they may get bruising, rashes, nose or gum bleeding, anemia leading to fatigue and pale skin, and an increased susceptibility to infections. These children also often have swollen lymph nodes (“glands”) in the neck, armpits or groin, and have an enlarged spleen and liver. Occasionally, there can be inflammation in the liver or kidneys as well.

Possible Causes

ALPS is a disease that usually develops in early childhood but affects both children and adults. It is not contagious, but it may run in a family. ALPS is caused by a “broken” protein that can no longer do the job your body needs it to do. The broken protein, named Fas, is the one that tells cells when they are normally supposed to die. Since the cells can’t be told when to die, they keep on living and accumulating in the lymph nodes, the spleen, and the liver. This accumulation may cause these organs to swell. The malfunctioning immune system cells can also start attacking normal parts of your body. They often attack your red blood cells, leading to anemia, or cells in your kidney and liver. Most people with ALPS have episodes of autoimmune problems that range from mild to severe. These episodes can occur at any time, but they are often worse during childhood. In fact, the health of most individuals with ALPS improves over time with dramatic improvements occurring during the teenage to young adult years. Due to the presence of abnormal cells in the blood stream, people with ALPS also have a higher risk for developing certain cancers. However, not everyone with ALPS gets cancer.


Diagnosing the disorder requires special blood tests. Abnormal laboratory test results include low red blood cell counts (anemia), increased lifespan of unnecessary white blood cells, low overall white blood cell counts (increasing the risk of infection), specific gene patterns, and high counts of double-negative T cells and CD 5+ B cells (specific white blood cells that are normally never found in the blood). It is important to remember that there are many diseases whose symptoms are similar to those in ALPS. Most of these diseases are much more common than ALPS and may be more easily treated.


Though there is no cure for ALPS, it is possible to prevent most of the complications it causes. Steroids are usually the first treatment given for autoimmune episodes. The most common steroid given is prednisone. Steroid treatments have dramatically reduced the complications in some people with ALPS. However, steroids do have some disadvantages and should not be used too much or for too long. Azathioprine (Imuran) and cyclosporin are other medications given to reduce the amount of steroids required. ALPS complications, which can be prevented by therapy, include severe anemia, bleeding, infection, and kidney and liver disease. Other treatments include blood transfusions to replace red blood cells and vaccinations to prevent infections. Sometimes a splenectomy (removal of the spleen) is performed in order to eliminate the risk of a ruptured spleen. The spleen is much more fragile when it is swollen due to the accumulation of immune system cells. This fragility makes the spleen susceptible to tearing from relatively mild hits, like those received playing soccer or football. This operation, however, increases the risk of bacterial infection and for this reason individuals who undergo a splenectomy are often given increased vaccinations and antibiotics.


ALPS is a newly described disease and people are still learning about it. Once again, autoimmune episodes can occur at any time, but they are often worse during childhood. Also, it is common for great improvement to occur during the teenage to young adult years. Though their health generally improves with age, people with ALPS will continue to have abnormal cells in their blood and will always have an increased risk of developing certain cancers. For this reason it is vital that people with ALPS are monitored closely throughout their lives by someone who understands the disease.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Autoimmune Lymphoproliferative Syndrome (ALPS) National Institutes of Health - Nov. 1999
An excellent site with general, easy to read information about the disease, about the underlying genetics and with links to other resources.

"The Official Patient's Sourcebook" on Autoimmune Lymphoproliferative Syndrome
From the website: This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to autoimmune lymphoproliferative syndrome. The website has some free information but the book is not free.
A great website with current research and ongoing clinical trials.

Google Search for Autoimmune Lymphoproliferative Syndrome (ALPS)

References and Sources