Niemann-Pick Disease (Types A & B)

What is Niemann-Pick disease?
Niemann-Pick disease (NPD) is a rare genetic condition caused by reduced activity of an enzyme called acid sphingomyelinase (ASM). The function of ASM is to break down a fatty substance called sphingomyelin, which is present in all cells of the body. In patients with type B Niemann-Pick disease (NP-B), sphingomyelin accumulates in the cells of liver, spleen, and lungs. Infants with type A disease (NP-A) also have accumulation of sphingomyelin in the brain.  This causes damage to these organs.

What are the symptoms of Niemann-Pick disease?
NPD type A appears during infancy and is characterized by an enlarged liver and spleen failure to gain weight and grow at the expected rate (failure to thrive), and gradual deterioration of the nervous system. NP-A is also known as the neurological type, due to the involvement of the nervous system. Children affected by this condition generally do not survive past early childhood.  There is no treatment for NP-A.

NPD type B has a range of symptoms that may include enlargement of the liver and spleen, growth delays, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). Most patients with NP-B develop symptoms when they are children, although some have milder disease and are not diagnosed until they are adults. NP-B is known as the non-neurological type because the brain is not usually affected.

Is there treatment?
At the present time, there is no specific treatment or approved medical therapy for NP-B. However, researchers are currently testing a new investigational drug to evaluate whether it is safe and effective for patients with NP-B. There is no treatment for NP-A.

What is the prognosis?
Patients with NP-B usually survive into adulthood, although some patients die prematurely, mainly from liver and lung disease. NP-A causes death in infancy.

How is it inherited?
It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease.

For more information, see: Genetics Home Reference; MedlinePlus


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