Is Niemann Pick Disease A Serious Condition & Can It Be Reversed?

Niemann Pick disease is an autosomal recessive lysosomal storage disorder that is hereditary. Types A & B of the disease are associated with a deficiency in acid sphingomyelinase while Type C is linked to impaired cholesterol esterification. As a result of these complications, an individual can experience various symptoms including lipid accumulation, neurological degeneration especially in patients with Type’s A & C, and pulmonary infiltration in Type B to name a few. Niemann Pick disease is common among infants and for most children, they do not get to live long with the condition.[1]

How Serious Is Niemann Pick Disease?

How Serious Is Niemann Pick Disease?

Niemann Pick disease majorly results in a build-up of harmful levels of fatty substances such as lipids, fat, and cholesterol in various organs in the body. The areas often affected include the spleen, bone marrow, liver, lungs, and the brain. Type A Niemann Pick disease is linked with a gene mutation associated with a complete lack of sphingomyelinase. Since the body cells are unable to break down lipids, affected cells become enlarged. Other than that, infants with Type A exhibit symptoms of neurological involvement with central nervous impairment, and most do not survive for more than two or three years.

Type B Niemann Pick disease has no neurological involvement; however, patients show signs of hepatosplenomegaly, which is swelling of the spleen. Patients also exhibit signs of lung functionality impairment and hence may require oxygen to survive. Infants with Type C may have mild hepatosplenomegaly, and their central nervous system is greatly affected. Patients can also develop other life-threatening complications including splenic rupture, organ failure of affected organs, and pulmonary infections.[2]

Can Niemann Pick Disease Be Reversed?

Generally speaking, Niemann Pick disease is a serious condition with no viable treatment or cure, thus cannot be reversed. All types of Niemann Pick disease cannot be cured and children with the condition tend to die early more so due to progressive neurological impairment of the central nervous system or due to infections. Nevertheless, there are a few treatment plans that may help with the symptoms and slow down disease progression. They include a bone marrow transplant, enzyme replacement, and stem cell transplantation.[3] The outlook of Niemann Pick disease is relatively poor, and many children don’t survive long enough into adulthood. For children with Type A, most of them die in infancy, but those with Type B may survive long enough into late childhood or early adulthood. For patients diagnosed with Type C, their life expectancy is majorly dependent on when Niemann Pick disease manifests itself. If the symptoms appear during infancy, then the prognosis is poor and your child is likely to die during infancy. On the other hand, if symptoms appear, say from the age of 5, your child can live into early adulthood or late teenage years.[4]

Can Niemann Pick Disease Be Reversed?

Important Facts About Niemann Pick Disease

Niemann Pick disease is a congenital condition associated with a gene mutation linked to lipid synthesis and storage. Kids inherit the condition in an autosomal recessive pattern meaning both copies of the gene in each cell have mutations. The pattern of inheritance is gotten from both parents, where each carries one copy of the mutated gene. As a result of impaired lipid esterification, those with the disease have a characteristic symptom of accumulation of harmful levels of fatty products, which eventually leads to death. Depending on the organs affected, fatty substances can collect in them causing them to be inflamed. Death in children is often associated with complications related to the condition such as infections or progressive degradation of the central nervous system. Niemann Pick disease has no cure.[5]


Niemann Pick is a serious condition with no cure, which basically means the effects it has on the body cannot be reversed. The severity of the disease is associated with the impairment of fatty substances esterification, which then leads to the collection of harmful levels of fatty products in various organs thus causing inflammation. Other than that, some of the complications of Niemann Pick disease can be life-threating such as the development of serious infections, defective central nervous system, and organ failure, to name but a few.


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