How is autoimmune lymphoproliferative syndrome (ALPS) diagnosed?

Autoimmune lymphoproliferative syndrome (ALPS) is a newly described disease and many of the symptoms are not specific to just ALPS. Therefore, it may be difficult for a doctor to diagnose ALPS without knowledge of the disease and its symptoms.

Clinical exam: A diagnosis is often made based on a clinical examination to check for symptoms of the disease. Symptoms that a doctor may look for to diagnose ALPS include an enlarged spleen (due to more blood cells getting stuck there), enlarged lymph nodes, skin rash, and frequent nose bleeds.

Blood tests: Patients with ALPS often have reduced numbers of red blood cells and increased numbers of certain types of white blood cells. Blood may be drawn from patients to check for these signs of the disease.

Genetic tests: Most patients with ALPS have a mutation, or error, in a gene called Fas. In patients who exhibit symptoms of ALPS, genetic testing may be used to look for a mutation in Fas and help diagnose the condition.

Cellular assays: Experiments may be performed on the lymphocytes of patients who are suspected to have ALPS to confirm a diagnosis. The lymphocytes of most patients with ALPS undergo decreased levels of cellular death, due to a defect, or mutation, in the Fas gene. A patient's lymphocytes can be tested in a laboratory using a cellular assay, to determine if the lymphocytes undergo decreased levels of death due to this mutation.

You should read product labels, and discuss all therapies with a qualified healthcare provider. Natural Standard information does not constitute medical advice, diagnosis, or treatment.