Niemann-Pick disease

Niemann-Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of the enzyme called sphingomyelinase, which leads to the buildup of a fatty substance (sphingomyelin) in cells in the liver, spleen, lymph nodes, and bone marrow. Niemann-Pick disease is most commonly seen in families of Eastern European (Ashkenazi) Jewish heritage.

At least five types of Niemann-Pick disease have been identified. The most common are type A and type B.

  • Type A usually causes symptoms by 6 months of age. Symptoms may include feeding difficulty, vomiting, and abdominal distention from an enlarged spleen and liver. Some babies have a cherry-red spot in the membrane that lines the back of the eye (retina). Infections such as pneumonia are common. Death usually occurs by the age of 4.
  • Type B disease is a milder form that does not affect the brain. Children are usually diagnosed during early childhood because of enlargement of the liver or spleen. Teenagers with type B disease may have frequent lung infections. Most people with type B Niemann-Pick disease live into their 30s or 40s.
  • Type C usually shows up during childhood. It can cause breathing problems, liver disease, developmental delays, seizures, low muscle tone, and feeding problems. It is the rarest type of Niemann-Pick disease. Most people with type C die by the age of 20. The kind of genetic change (mutation) determines whether a person has type C1 or C2.

There is no treatment for Niemann-Pick disease. Support groups and counselling can be helpful for people with Niemann-Pick disease and for their families. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.

Is it an emergency?

If you or someone in your care has chest pains, difficulty breathing, or severe bleeding, it could be a life-threatening emergency. Call 9-1-1 or the local emergency number immediately.
If you are concerned about a possible poisoning or exposure to a toxic substance, call Poison Control now at 1-800-567-8911.

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