Non-CNS manifestations of acid sphingomyelinase deficiency

Non-CNS manifestations of acid sphingomyelinase deficiency refers to the peripheral, systemic pathology of acid sphingomyelinase deficiency (historically categorized as Niemann-Pick disease types B and A/B), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SMPD1 gene This deficiency impairs the catabolism of sphingomyelin, leading to toxic lipid accumulation within reticuloendothelial macrophages and visceral parenchyma across pediatric and adult populations

Non-CNS manifestations of acid sphingomyelinase deficiency refers to the peripheral, systemic pathology of acid sphingomyelinase deficiency (historically categorized as Niemann-Pick disease types B and A/B), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SMPD1 gene

This deficiency impairs the catabolism of sphingomyelin, leading to toxic lipid accumulation within reticuloendothelial macrophages and visceral parenchyma across pediatric and adult populations Pathophysiologically and clinically, this subset of the disease is characterized by non-neurological complications including progressive hepatosplenomegaly, interstitial lung disease causing gas exchange impairment, thrombocytopenia, proatherogenic dyslipidemia, and pediatric growth failure

This deficiency impairs the catabolism of sphingomyelin, leading to toxic lipid accumulation within reticuloendothelial macrophages and visceral parenchyma across pediatric and adult populations

Pathophysiologically and clinically, this subset of the disease is characterized by non-neurological complications including progressive hepatosplenomegaly, interstitial lung disease causing gas exchange impairment, thrombocytopenia, proatherogenic dyslipidemia, and pediatric growth failure

Pathophysiologically and clinically, this subset of the disease is characterized by non-neurological complications including progressive hepatosplenomegaly, interstitial lung disease causing gas exchange impairment, thrombocytopenia, proatherogenic dyslipidemia, and pediatric growth failure