Niemann–Pick disease: own observations and new therapeutic options

The Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by the lack or decreased activity of the acid sphingomyelinase enzyme or a deficiency of the Niemann-Pick C intracellular cholesterol transporter protein. As a result of the defect, sphingomyelin and cholesterol accumulate in the lysosomes of the cells. The most common presentation symptom of the disease is abdominal protrusion due to hepatosplenomegaly. The most severe symptoms are the consequences of progressive neurodegeneration. Genetic testing is essential to confirm the diagnosis, which also allows for prenatal genetic testing in the affected families. Early detection of the disease is extremely important as therapeutic options are expanding. Thanks to substrate reduction and enzyme replacement therapies, hepatosplenomegaly can be reduced, and progression of neurological symptoms can be reversed. Through two case reports, the author presents the main types, clinical manifestations, and molecular genetic background of this rare metabolic disorder. The author describes the diagnostic and therapeutic approaches to Niemann-Pick disease. Orv Hetil. 2021; 162(2): 74-80.