Autoimmune Lymphoproliferative Syndrome (ALPS)
What is Autoimmune Lymphoproliferative Syndrome (ALPS)?
Autoimmune Lymphoproliferative Syndrome, or ALPS, is a rare genetic disorder that affects how your immune system regulates itself. In ALPS, a defect prevents certain immune cells called lymphocytes from dying when they should. Normally, old or damaged lymphocytes undergo a natural death process called apoptosis. When this process fails, lymphocytes build up in your body.
This buildup leads to enlarged lymph nodes, an enlarged spleen, and sometimes an enlarged liver. The extra lymphocytes can also attack your own blood cells, causing autoimmune problems. ALPS typically appears in childhood, but symptoms can vary widely from person to person.
Most people with ALPS have a mutation in genes that control lymphocyte death. The condition is usually inherited, but some cases happen from new mutations. Because lymphocytes accumulate over time, ALPS is a chronic condition that requires ongoing monitoring and care.
Symptoms
- Enlarged lymph nodes in the neck, armpits, or groin that do not go away
- Enlarged spleen that may cause abdominal discomfort or fullness
- Enlarged liver
- Fatigue and weakness from low red blood cell counts, called anemia
- Easy bruising or bleeding from low platelet counts
- Frequent infections
- Pale skin from anemia
- Autoimmune symptoms like joint pain or rashes
Symptoms usually begin in early childhood, often before age 5. Some people have mild symptoms that go unnoticed for years. Others experience more severe complications that require medical attention.
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Causes and risk factors
ALPS is caused by genetic mutations that affect how lymphocytes die naturally. The most common mutations occur in the FAS gene, which provides instructions for making a protein that triggers cell death. When this gene does not work properly, lymphocytes continue to multiply and accumulate. Other genes involved in the same cell death pathway can also cause ALPS when mutated.
Most cases are inherited from a parent who carries the mutation. However, about 20 to 30 percent of cases result from new mutations that occur randomly. Having a family history of ALPS, enlarged lymph nodes, or autoimmune problems increases the risk. Males and females are affected equally. Because this is a genetic condition, you cannot prevent it through lifestyle changes.
How it's diagnosed
Doctors diagnose ALPS through a combination of clinical findings, blood tests, and genetic testing. Blood tests can reveal elevated lymphocyte counts, particularly a specific type called double-negative T-cells. These are T-cells that lack certain surface markers and are highly characteristic of ALPS. Rite Aid offers testing that measures your lymphocyte levels, which helps monitor this condition over time.
Additional specialized tests may include flow cytometry to identify double-negative T-cells and genetic testing to find mutations in the FAS gene or related genes. Your doctor may also order imaging tests like ultrasound or CT scans to check for enlarged organs. A diagnosis typically requires multiple criteria, including chronic lymphocytosis, elevated double-negative T-cells, and evidence of defective lymphocyte apoptosis.
Treatment options
- Regular monitoring of blood counts and organ size through blood tests and imaging
- Immunosuppressive medications like sirolimus or mycophenolate to reduce lymphocyte buildup
- Corticosteroids like prednisone for autoimmune flares
- Intravenous immunoglobulin for low antibody levels or severe autoimmune problems
- Surgical removal of the spleen in severe cases with very low blood counts
- Antibiotics to prevent or treat infections when immune function is compromised
- Blood transfusions for severe anemia
- Close follow-up with a hematologist or immunologist experienced in ALPS
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- Simple blood draw at your nearest lab
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Frequently asked questions
The first signs often include enlarged lymph nodes that do not go away and an enlarged spleen. These usually appear in early childhood, typically before age 5. Some children also develop anemia or low platelet counts that cause fatigue or easy bruising.
No, ALPS is not cancer, but it does increase the risk of developing lymphoma later in life. ALPS is an immune system disorder where lymphocytes fail to die naturally and accumulate. People with ALPS need regular monitoring to watch for signs of lymphoma, which occurs in about 10 to 20 percent of cases.
There is no cure for ALPS because it is a genetic condition. However, many people manage symptoms well with medications and monitoring. Treatment focuses on controlling lymphocyte buildup, preventing autoimmune complications, and watching for serious problems like lymphoma.
ALPS involves an accumulation of normal lymphocytes that fail to die, while leukemia involves abnormal cancer cells that grow uncontrollably. Both can cause high lymphocyte counts, but ALPS is not cancer. Special blood tests like flow cytometry and genetic testing help doctors tell them apart.
A complete blood count can show elevated lymphocyte levels, which is often the first clue. Specialized flow cytometry tests identify double-negative T-cells, which are highly specific to ALPS. Genetic testing confirms the diagnosis by finding mutations in genes like FAS that control lymphocyte death.
No, ALPS is a lifelong genetic condition that does not go away. However, symptoms can vary over time and may improve or worsen at different stages. Some people have mild disease that requires little treatment, while others need ongoing medications and monitoring throughout life.
Because ALPS is genetic, lifestyle changes cannot reverse the condition. However, avoiding activities that could injure an enlarged spleen is important, such as contact sports. Maintaining good nutrition supports overall health, and avoiding infections through good hygiene helps prevent complications.
Yes, ALPS can be inherited if you carry a mutation in one of the genes that cause it. Each child has a 50 percent chance of inheriting the mutation if one parent has it. Genetic counseling can help families understand their specific risk and discuss testing options.
People with ALPS typically need blood tests every 3 to 6 months to monitor lymphocyte counts and watch for complications. Your doctor may check more often if you start new medications or develop new symptoms. Regular monitoring helps catch problems early and adjust treatment as needed.
The main long-term risks include developing lymphoma, severe autoimmune problems, and complications from low blood counts. About 10 to 20 percent of people with ALPS develop lymphoma over their lifetime. Regular medical follow-up and monitoring help detect and manage these risks early.