About Niemann-Pick Disease

Niemann-Pick disease is a rare genetic disease which causes cell breakdown and cell death. It causes fat cells to accumulate in lungs, brain, spleen, liver, lungs and bone marrow. There are four types: A, B, C and D.

Symptoms and diagnosis

Although symptoms of Niemann-Pick disease may vary according to type and which organs are involved, some characteristics may be picked up early in the patient's life. Symptoms may include jaundice, difficulty swallowing, constipation, exaggerated muscle contractions and spasticity, insomnia, pneumonia, seizures, constipation, and a sudden loss of muscle tone.

However, because symptoms of Niemann-Pick disease, such as jaundice and seizures or loss of muscle control, can be common in other diseases, many times unless the physician has seen other cases this condition is prone to misdiagnosis. Knowledge of the patient's ethnic heritage can be of great assistance. Genetic and biochemical tests must be done to definitively diagnose Niemann-Pick disease.

Type A Niemann-Pick disease

Type A Niemann-Pick disease strikes the patient in infancy. These infants are almost always of Ashkenazi Jewish heritage. The baby will be jaundiced, with an enlarged liver. There will be profound brain damage in the child, who in most cases will not survive past eighteen months. Most cases of Niemann-Pick disease are of this type, with the latest figures showing eighty-five per cent of cases. Approximately one in one thousand Ashkenazi Jews carries the gene for this form of the disease. There is no cure nor effective treatment for the Type A strain of Niemann-Pick at this time.

Type B Niemann-Pick disease

Type B Niemann-Pick disease normally affects pre-teen adolescents and causes enlarged spleen and liver. They do not suffer brain damage. There is a susceptibility to infection, so Type B patients often contract pneumonia and some loss of lung function. In these cases, supplemental oxygen can be given. There has been some success with Type B patients who receive bone marrow transplants. Niemann-Pick Type B patients can survive a relatively long time. Although their growth is stunted, it is not uncommon for them to grow to adulthood.

Type C Niemann-Pick disease

Type C Niemann-Pick patients do not usually exhibit symptoms until after two years of age. Since this form affects the nervous system, the child will begin having difficulty with speech and suffer lack of coordination and motor skills. Seizures will occur, and there will be a profound loss of ability to function normally both mentally and physically. This form of the disease is always fatal, and these patients rarely live past the age of fifteen.

Type D Niemann-Pick disease

Victims of Type D Niemann-Pick disease almost always are of Nova Scotian descent. It is characterized, like Type C, by a neurological defect that disrupts cholesterol movement between brain cells. Depending on how severely this disease strikes the individual, it is possible for type D patients to live into adulthood.

Although research is being conducted and there have been advancements in organ transplant and relief of symptoms, to date there is no known cure for any form of Niemann-Pick disease. DNA analysis testing and prenatal enzyme assay are the best current techniques for preventing children being born with this genetic disease.

Sources:

National Institute of Health

Mayo Clinic

Signet/Mosby Medical Encyclopedia