Niemann-Pick disease Health Article

Treatment

At this time, there is no effective treatment for Type A.

Bone marrow transplantation has been performed on a few patients with Type B with encouraging results. Researchers continue to study possible treatments, including enzyme replacement therapy and gene therapy.

There is no specific treatment for Type C and D. A healthy, low-cholesterol diet is recommended, although research into low-cholesterol diets and cholesterol-lowering drugs does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. However, medicines are available to control or relieve many symptoms, such as cataplexy and seizures.

Support Groups

For more information, visit the National Niemann-Pick Disease Foundation website: www.nnpdf.org

Expectations (prognosis)

Type A Niemann-Pick is a severe disease, which generally leads to death by age 2 or 3.

Those with Type B may live into late childhood or adulthood.

A child who shows signs of Type C before age 1 may not live to school age. Those who show show symptoms after entering school may live into their mid-to-late teens, with a few surviving into the 20s.

Complications

• Brain damage with varying degrees of mental retardation and delayed development of physical skills
• Blindness
• Deafness
• Death

Calling your health care provider

Make an appointment with your health care provider if you have a family history of Niemann-Pick disease and you plan to have children. Genetic counseling and screening is recommended for such individuals.

Call your health care provider if your child has symptoms of this disease, including

• Feeding problems
• Developmental problems
• Inadequate weight gain

Prevention

All types of Niemann-Pick are autosomal recessive. This means that both parents are carriers -- they each carry one copy of the abnormal gene without having any signs of the disease themselves.

When both parents are carriers, there is a 25% chance that their child will have the disease and a 50% chance that a child will be a carrier.

Carrier detection testing is only possible if the specific genetic defect is identified. The defects involved in Types A and B have been extensively studied, and DNA tests for these forms of Niemann-Pick are available.

Genetic defects have been identified in the DNA of many patients with Type C, so it may be possible to diagnose those who carry the abnormal gene.

A few centers offer tests to diagnose a baby still in the womb.