About lipidosis sphingomyelin

What is lipidosis sphingomyelin?

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of impaired trafficking of large molecules within cells, which results in the accumulation of excessive amounts of cholesterol and other lipids (glycosphingolipids) tissues throughout the body. The metabolic defect in type C can lead to a secondary reduction in ASM activity in some cells.

The division of Niemann Pick disease into groups A, B, C and D was proposed by Allan Crocker in 1961 after he and Sidney Farber had expanded the category of Niemann-Pick disease by applying the diagnosis to all patients with "foam cells" and lipid storage in the tissues. This had led to the inclusion of older and less severely affected people than those originally described by Niemann and Pick.

Symptoms common to all types of Niemann-Pick disease include yellow discoloration of the skin, eyes, and/or mucous membranes (jaundice), progressive loss of motor skills, feeding difficulties, learning disabilities, and an abnormally enlarged liver and/or spleen (hepatosplenomegaly). The different types of Niemann-Pick disease are inherited as autosomal recessive traits.

What are the symptoms for lipidosis sphingomyelin?

The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood.

What are the causes for lipidosis sphingomyelin?

Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.

Niemann-Pick is a progressive disease, and there is no cure. It can occur at any age.

Types of Niemann-Pick

Types A and B

Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase. This affects the body's ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with primary brain disease. Most people affected with type B survive into adulthood.

Type C

Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.

What are the treatments for lipidosis sphingomyelin?

No cure exists for Niemann-Pick disease. No effective treatment is available to people with type A or B. For people with mild to moderate type C, a drug called miglustat (Zavesca) may be an option. An international study of 92 people with type C Niemann-Pick showed improved neurological symptoms after taking miglustat regularly for an average of two years.

Physical therapy is an important part of treatment to help maintain mobility as long as possible. People with Niemann-Pick disease need to see their doctors regularly, because the disease progresses and symptoms worsen.

Is there a cure/medications for lipidosis sphingomyelin?

Type A

Some children with the type A form of Niemann-Pick live to the age of 4. However, a majority of children with this type die in infancy.

Type B

Those with Niemann-Pick type B may survive into late childhood or early adulthood, but they often have health problems such as respiratory failure or complications related to an enlarged liver or spleen.

Type C

Niemann-Pick type C is always fatal. However, life expectancy depends on when symptoms begin. If symptoms appear in infancy, your child isn’t likely to live past the age of 5. If symptoms appear after 5 years of age, your child is likely to live until about 20 years of age. Each person may have a slightly different outlook depending on their symptoms and the severity of the disease.

Whichever type of Niemann-Pick disease you or your child may have, the sooner it’s recognized and diagnosed, the better. Research on the disease continues, and scientists are working toward more effective management and treatment of the disease.

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