Autoimmune lymphoproliferative syndrome
Evidence: T Cell
Names
Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
Description
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disease that causes the overproduction of lymphocytes. ALPS results from mutations in one of the genes controlling how lymphocytes work. The most common gene affected is called FAS. This leads to the enlargement of lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). ALPS can cause anemia (low level of red blood cells), thrombocytopenia (low level of platelets), and neutropenia (low level of neutrophils). ALPS can also cause impairing symptoms and increase the risk of developing serious health conditions, such as autoimmune diseases and lymphoma.
Patient Groups
None
Bloggers
None
Prevalence
Around 500 patients with ALPS in more than 300 families have been reported worldwide with no racial or ethnic predilection [Shah et al 2014].
The true prevalence of ALPS is still unknown as many individuals are undiagnosed or misdiagnosed [Shah et al 2014].
Typical Age of onset
No specific age, ALPS affects both children and adults [NIAID]
Symptoms
Enlargement of lymph nodes
Enlargement of spleen
Enlargement of liver
Low blood counts
Fatigue
Pallor
Jaundice
Frequent Infections
