Niemann-Pick disease is classified as an autosomal recessive disorder which affects the metabolism of lipids or fats in the body. The process of breaking down fats in the body and fat utilization to support daily activities is abnormal. As a result, excessive and unhealthy amounts of lipids or fats to accumulate in the liver, bone marrow, lungs, spleen and even in the brain. Niemann-Pick disease is classified into three variants – Types A, B and C. There are two distinct bases for the variants of this disease. First is on the genetic cause and second on the symptoms being presented by the patients.

Diagnosis depends on several laboratory tests which include series of blood works. Other diagnostic procedures may be requested by the physician to assess severity of liver and spleen condition.

Type A Niemann-Pick Disease begins during infancy. Children with this disorder fail survive past the early stages of childhood. This type is characterized by enlarged spleen and liver, failure of the child to thrive and nervous system deterioration that has a progressive pattern. Type B Niemann-Pick Disease patients also present an enlarged spleen and liver, lung infections and other lung problems, retardation of growth, blood abnormalities with abnormally high lipid and cholesterol levels and low platelet count. These patients usually survive to adulthood. Type C Niemann-Pick Disease occurs during childhood although onset may also be during infancy and adulthood. Symptoms include, serious liver diseases, difficulty in breathing, dystonia, seizures, delayed motor development, lack of vertical eye movements and feeding problems.

Niemann-Pick C2 Disease is inherited. It is classified as an autosomal recessive disorder.

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