Niemann–Pick Disease

The term Niemann-Pick disease (NPD) embraces a family of two genetically distinct disorders. The first subgroup disorders are associated with primary deficiency of acid sphingomyelinase (ASM), which leads to progressive deposition of sphingomyelin, mainly in the reticuloendothelial cells. This group is subdivided into types A and B that are allelic disorders. The second subgroup within the NP family is classified as NPD, type C (NPC). Diagnosis is made primarily by demonstrated deficiency of acid sphingomyelinase in cultured skin fibroblasts; peripheral blood lymphocytes can also be used for this purpose. NPC is a neurovisceral disorder of late endosomal/lysosomal trafficking of cholesterol and glycosphingolipids. The only disease-modifying therapy that has been approved for treating the neurologic manifestations of NPC, is miglustat. Inflammation has been shown to play an important part in the pathology of NPC, and anti-inflammatory agents may prove to be useful adjuvants in combination therapeutic approaches.