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autoimmune lymphoproliferative syndrome (ALPS)





A rare inherited disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which can lead to enlargement of these organs. ALPS can cause numerous autoimmune problems such as anemia (low count of red blood cells), thrombocytopenia (low count of platelets), and neutropenia (low count of neutrophils, the most common type of white blood cell in humans).
  • ALPS is a disorder that typically develops in early childhood but can present in adults.
  • ALPS is not cancer, and it is not contagious.
  • There is a wide spectrum of illness in ALPS. For some, it is very mild; for others, it is more severe.
  • Once a person has ALPS, he or she does not become sicker and sicker over time. In fact, the problems seem to lessen as children get to be teenagers and young adults.
  • Most people with ALPS have episodes of autoimmune problems (conditions in which the immune system attacks cells in the body). These can happen at any age, but they appear worse in childhood. Common autoimmune problems in ALPS include:
    • Very low red blood cell counts (hemolytic anemia) that can make one weak.
    • Very low platelet counts (immune-mediated thrombocytopenia, or ITP) that cause bruises and nose bleeds, and may pose a risk for hemorrhage (excessive bleeding). Little spots called petechiae may also show up on the skin when platelets are low.
    • Very low white blood cell counts (autoimmune neutropenia), creating a risk for bacterial infection.
    • Less often, other autoimmune problems can occur in almost any organ - skin, liver, kidney and nerves are examples.
  • Genetic mutations responsible for ALPS can be passed on from generation to generation or can occur spontaneously.
  • Immune systems in patients with ALPS are generally efficient in fighting infection.
  • An increase in certain types of white blood cells called alpha-beta double-negative T cells are elevated in ALPS patients.

How to manage ALPS

There is no cure for ALPS. However, most of its complications can be treated.


Splenectomy

An enlarged spleen is common in patients with ALPS. Usually, it is not necessary to remove the spleen unless there are severe problems like anemia and thrombocytopenia that are not responsive to treatment or if there is concern that the spleen may rupture due to massive enlargement. Removing a spleen carries both risks and benefits, which doctors and patients must carefully consider before deciding what to do.


Benefits of splenectomy
  • Easier to regulate and control blood counts
  • Less discomfort
  • No risk of spleen rupture

Risks of splenectomy
  • Increased likelihood of certain bacterial infections, which can be life threatening; patients must get vaccinated to avoid infections, and some may need to take antibiotics for many years
  • Possible recurrence of anemia or thrombocytopenia

Steroids

Steroids are the first line of treatment for anemia and thrombocytopenia caused by autoimmune processes. One common steroid is prednisone. It is often given for a short time, but sometimes it is needed for longer periods.

When prednisone is not enough to treat these episodes, other drugs such as mycophenolate mofetil, rituximab, IVIG, and vincristine may also be prescribed. Steroids have been very effective in treating these problems. However, steroids can have adverse side effects, so they should not be used for extended periods of time.


Possible long-term side effects of steroids
  • Thinning of bones
  • Poor wound healing
  • Difficulty fighting infection
  • Cataracts of the eyes
  • Mood swings
  • Weight gain
  • Elevated blood sugar

Other treatments

Blood transfusions are useful to replace red blood cells when anemia is severe. Vaccines are important to help prevent infections. In addition to all childhood vaccinations, it is important to get a yearly flu shot and boosters as needed. People with allergies to eggs should discuss the risks with their doctor prior to receiving a flu shot.





ALPS and your family


Risk to children

Individuals with a Fas mutation have a 50/50 chance of passing the Fas mutation on to their children. This chance is the same for each child. Not all individuals with a Fas mutation develop ALPS.


Relatives who do not have ALPS

Siblings or other relatives who don't have ALPS are still affected by the condition. Some worry that their brother or sister will die. Some think they will develop ALPS because they look or act like their brother or sister. Some children struggle with how much of their parents' time is spent with their sick brother or sister. It is important for families to talk openly about ALPS so that any misconceptions can be explained and feelings can be expressed. Family counseling is often helpful.

Many families say that ALPS has brought them closer together. Family members learn that they can rely on each other for support. Children learn from their parents' open and honest communication, and the experience teaches them how to solve problems.


Common questions and problems people with ALPS face


Why is your face so round?

People taking steroids may gain weight quickly. Some parents talk to teachers about the side effects of steroids in advance, so that classmates know what to expect. The swelling is temporary and goes away once the child stops taking the medicine.


Are you contagious?

People often worry that ALPS can spread to others, but ALPS is not infectious.


Stares from strangers

Parents of children with ALPS have to work extra hard to develop their children's self-confidence and sense of security. Children and adults with ALPS need to be reminded that they have many positive characteristics.


Spleens and sports

Some doctors recommend that people with enlarged spleens not play contact sports. When the spleen is large, it is fragile and there is a risk of rupture. NIH encourages use of a spleen guard, which is a piece of fiberglass that is molded to a person's stomach. It is easily wrapped around the stomach and held in place under a shirt. In general, the spleen guard is worn during any activity with a high risk for stomach injury, such as contact sports. Some people wear spleen guards while swimming, running track, or bicycling.


Symptoms

Not all people with ALPS will have all of its symptoms; some people have only a few. Signs of ALPS that are seen most often include the following:
  • Enlarged spleen
  • Enlarged lymph nodes, especially in the neck and underarms
  • Enlarged liver
  • Skin rashes
  • Thombocytopenia (low platelet count), which can cause bruising, nose bleeds, and may pose a risk for hemorrhage (excessive bleeding); little red spots called petechiae may also show up on the skin when platelets are low
  • Anemia (low red blood cell count), which can cause increased fatigue or pallor
  • Neutropenia (low neutrophil count), which can create a risk for bacterial infections

Related category

   • HEALTH AND DISEASE

Source: National Institute of Allergy and Infectious Diseases