Prevalence of the sphingolipid storage diseases M. Gaucher and M. Niemann-Pick type B: results in a nation-wide screening project in 224 patients

Abstract

Background: M Gaucher (GD) and Niemann-Pick disease type B (NP-B) are monogenic autosomal-recessive storage diseases. They are caused by reduced activities of lysosomal β-glucocerebrosidase (GBA1 in GD) or acidic sphingomyelinase (ASM in NP-B). Gaucher leads to hepatosplenomegaly, osseous complications and a reduced life expectancy. The frequency of hepatocellular carcinoma is high in GD. Niemann-Pick disease type B leads to hepatosplenomegaly, pancytopenia and a prognostically poor emphysema, some of the patients develop liver cirrhosis. In Germany, between the actual number identified in these patients (respectively < 500) and the reference to the heterozygote frequency predicted number (> 2000) there is a discrepancy. Hepatosplenomegaly is almost never missing. For both there is an effective enzyme supplementation therapy, either recombinant glucocerebrosidase (imiglucerase, velaglucerase, taliglucerase) in GD or the recently approved recombinant sphingomyelinase (olipudase-α) for NP-B.