Neiman Pick disease is a group of genetic diseases. There are five types of the disease, types A, B, C, D and E. Each type of Neiman Pick affects different organs, but all affect cholesterol storage, fat storage or both. In some cases, the respiratory and central nervous systems may be affected. Typically, symptoms of Neiman Pick disease affect the liver, brain and spleen.
Who is at Risk?
Patients with types A and B Neiman Pick are most often from the Ashkenazi Jewish population. Type C tends to occur in Puerto Ricans of Spanish decent. Type D is the rarest form of the condition and is found only in Yarmouth County in Nova Scotia. Type E is not a widely used term as it is used to describe adult-onset Neiman Pick.
Symptoms
Type A symptoms often present during infancy. Symptoms may include:
- Swelling of the belly
- Red spots in the eye
- Difficulty feeding
- Loss of motor skills
Type B symptoms are much milder as the nervous system and brain are not affected. Symptoms, including abdominal swelling, tend to occur later in childhood.
Type C symptoms present between early childhood and adulthood and include:
- Dystonia
- Dementia
- Jaundice
- Loss of muscle tone
- Difficulty walking
- Difficulty speaking, slurred words
- Seizures
- Irregular eye development
Complications
The most common complications associated with Neiman Pick are loss of vision, brain damage and death. Some patients may experience loss of hearing.
Diagnosis
Patient history is the strongest tool for diagnosis. If parents have a family history of Neiman Pick disease, genetic testing is often suggested. Blood tests are used to test for Types A and B. Skin tests are used to test for Types C and D.
Treatment
There is no cure for any type of Neiman Pick disease. Typically, symptoms are treated to reduce pain and suffering. There are no treatments available for Types A and D Neiman Pick. Patients with Types B and C may receive bone marrow transplants or medicinal therapy.
Life Expectancy
Prognosis is dependent on the type of Neiman Pick disease. Patients with Type A tend to live two to three years. Patients with Type B may live to adulthood, though death tends to occur in late childhood or early teens.
Prognosis for patients with Type C depends on when symptoms began. Infants usually pass before reaching five years of age. Later development extends life to late teens to mid 20s.