Niemann-Pick Disease

Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In patients with this rare disorder, fatty material builds up in various vital organs, sometimes including the brain. There are four main types of Niemann-Pick disease:

  • Causes

    Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.

  • Definition

    Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In patients with this rare disorder, fatty material builds up in various vital organs, sometimes including the brain.

    There are four main types of Niemann-Pick disease:

    • Type A—causes fatty substances to collect in the liver and spleen. Patients have severe brain damage and usually die by age two or three.
    • Type B—affects the liver and spleen. Organs enlarge during the pre-teen years. There is usually no brain damage. Patients usually suffer from breathing problems and die in teen years or early adulthood.
      The prognosis is better for type B than type A.
    • Type C—produces extensive brain damage. The liver and spleen are moderately enlarged. Type C usually starts in childhood and leads to death in teen years or early adulthood.
    • Type D—similar to type C, but occurs only in people related to a family that lived in Nova Scotia at the start of the 1700s. Type D is now recognized as a variation of type C.
    Liver and Spleen
    Child intestines
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  • Diagnosis

    The doctor will ask about the child’s symptoms and medical history. A physical exam will be done.

    Your child's bodily fluids and tissues may be tested. This can be done with:

    • Blood tests
    • Skin biopsy

  • Prevention

    There are no specific guidelines for preventing Niemann-Pick disease. Prevention measures are currently available in the areas of genetic testing and prenatal diagnosis. If you have Niemann-Pick disease or a have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.

  • Risk Factors

    A risk factor is something that increases your chance of getting a disease or condition.

    Risk factors for Niemann-Pick disease include:

    • Family members with Niemann-Pick disease
    • Ashkenazi Jewish heritage—types A and B
    • Nova Scotia, French-Canadian ancestry—type D
    • Spanish-American population of southern New Mexico and Colorado—type C
    • North African ancestry, Maghreb region including Tunisia, Morocco, and Algeria—type B

  • Symptoms

    Symptoms of Niemann-Pick disease may develop during infancy, childhood, or the teen years, depending on the type of the disease. Symptoms vary. Not all patients will develop every symptom. Symptoms usually worsen over time.

  • Treatment

    No specific or effective treatment currently exists for Niemann-Pick disease. Treatment is aimed at managing symptoms.
    For example, patients with type B may be given oxygen to help with lung problems.