Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions.
Gaucher disease is a rare lysosomal storage disorder due to a deficiency in glucocerebrosidase. Early symptoms can include heptatomegaly, splenomegaly, abdominal pain, skeletal abnormalities, and/or anemia.
Niemann-Pick A/B disease is also a rare lysosomal storage disorder but due to an acid sphingomyelinase (ASM) deficiency. Early symptoms can include heptatomegaly and splenomegaly, as well other more noticeable symptoms (learning problems, poor muscle control).
In a study presented at WORLDSymposium, Dr. Oliva and colleagues noted that approximately one out of four suspected Gaucher patients is suffering from ASM deficiency resulting in Niemann-Pick A/B disease being underdiagnosed.