Autoimmune Lymphoproliferative Syndrome, or ALPS, is a rare genetic disorder that is caused by having a large number of lymphocytes in the body. This leads to enlarged lymph nodes and an enlarged spleen. The lymphocytes might also attack other parts of the body, in particular blood cells, which can cause autoimmune disease. Many people with ALPS have anaemia and bruising as an early indicator of the condition, followed by a host of other symptoms.
ALPS can show different symptoms during different phases of the condition. The symptoms which affect the spleen and create enlarged lymph nodes often appear during childhood. There are usually no other symptoms during this period of the condition.
Over time, ALPS usually develops further into an autoimmune disease. The most common problem that those with ALPS experience is that their immune system attacks their red blood cells and the body’s tissues. This leads to tiredness, pallor, and bruising, along with weakness. This is called Evans Syndrome.
In the later stages of the disease, ALPS can cause lymphoma. Those who do not get lymphoma can experience weight loss, extreme fatigue, loss of appetite, fever, very enlarged lymph nodes, and very low red blood cell counts.
ALPS is caused by a mutation in the genes that control how the lymphocytes in the body function. The most commonly affected gene is the FAS gene. This allows for the overproduction of lymphocytes which are not needed since there is no infection present in the body.
The primary risk factor for ALPS is genetic. If one or more of your parents has the genes that can lead to this mutation, you can end up with ALPS. This condition can also be spontaneous as a gene abnormality occurs during the formation of the embryo without the parents carrying the gene that causes the condition.
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Diagnosis is made through genetic testing in most cases. There are also blood tests that can be done to look at the number of lymphocytes in the blood and to check for specific types of double-negative T lymphocytes. If lymphoma is a concern, tests for this kind of cancer can be conducted as well.
You cannot prevent ALPS. This is a condition that is caused by genetic mutations that cannot be avoided. However, parents can choose to be tested for this genetic marker before they have children. You might choose not to have kids if you carry the genes that could lead to this condition in your children.
Treatment of ALPS is not always necessary. In some cases, the condition does not cause severe enough symptoms to warrant any kind of supportive care. However, if the condition progresses and expresses itself through more severe symptoms, care will be provided to help with the various symptoms that can be linked to the condition. This might mean transfusions to help with low blood cell counts or cancer treatment if lymphoma is present. Autoimmune diseases can be treated through a variety of different methods and with a wide array of drugs.
Working with a specialist is essential if your ALPS has progressed to the stage where symptoms need to be managed. This can be a tricky condition to keep under control in the later stages, and you will almost always be referred to a specialist to help treat the symptoms that you are experiencing.