Liver damage associated with thesaurismosis: acid sphingomyelinase deficiency (Niemann-Pick diseasе, types A, B and A/B)

The paper is focused on clinical presentation and features of liver damage associated with acid sphingomyelinase deficiency (ASMD, Niemann-Pick disease types A, B and A/B), a rare (orphan) disease from the group of lysosomal storage diseases (thesaurismoses). Main aspects of etiopathogenesis, symptoms and advanced approaches to diagnosis and treatment of the disease are highlighted. The paper describes main directions of differential diagnosis and current opportunities of enzyme replacement therapy. The ASMD-associated pathological process is caused by sphingomyelin accumulation in various organs and tissues (including liver) due to mutation in a sphingomyelin phosphodiesterase 1 (SMPD1) gene encoding acid sphingomyelinase. The disease is characterized by autosomal recessive inheritance. Its clinical presentation varies significantly depending on a type. Increased levels of hepatic sphingomyelin, phospholipids, and cholesterol are common features of liver damage associated with ASMD. The substance accumulation nature is qualitatively similar regardless of the disease type, but the accumulation degree depends on this factor. Typically, periportal and pericellular fibrosis are mainly reported around the affected Kupffer cells. Timely diagnosis and treatment of the disease can reduce its severe consequences and improve the quality of life in patients. KEYWORDS: thesaurismosis, acid sphingomyelinase deficiency, Niemann-Pick disease, sphingomyelin, liver diseases. FOR CITATION: Bokova T.A. Liver damage associated with thesaurismosis: acid sphingomyelinase deficiency (Niemann-Pick diseasе, types A, B and A/B). Russian Medical Inquiry. 2025;9(5):281–284 (in Russ.). DOI: 10.32364/2587-6821-2025-9-5-4