Diagnosis and treatment of ALPS

The diagnosis of ALPS depends on recognition of suggestive clinical features,
along with blood tests looking at the different types of lymphocytes, particularly
some called double-negative T lymphocytes. There are many conditions that can
cause similar symptoms and it is important that careful evaluation is performed
to exclude any of these. Special tests, including genetic tests, are available if
ALPS is strongly suspected.

Complications of ALPS may need to be evaluated in their own right; for example,
by scans or further blood tests. If lymphoma needs to be ruled out, a small biopsy of one of the lymph glands might be performed.

Treatment of ALPS

Most patients do not require any treatment but just need to have the size of
their glands and the number of blood cells present in a blood sample monitored
regularly. Some patients might require medication to control the overgrowth of
lymphocytes or autoimmune complications. This immunosuppressive treatment
will be individualised for each patient’s problems and needs. For very severe
disease, replacement of the abnormal lymphocytes by haematopoietic stem cell
transplantation
might be considered, but this is rare.

The patient’s spleen can be quite big, but generally this should be treated with
medicines rather than splenectomy (surgical removal of the spleen). This is
because the spleen does an important job in protecting us from serious infection.

What does this mean for the future?

Most people with ALPS have a good outlook. Symptoms often improve after puberty. The increased risk of lymphoma means patients should be followed up by a specialist. Genetic counselling, both for affected people and for family members, is important if the genetic cause is known.