Niemann-Pick Type C
Niemann-Pick Type C disease (NPC) is a rare genetically inherited disorder that neurologically has a devastating effect. It is the cells inability to metabolize and transport cholesterol causing a build up of fatty lipids in the brain, liver, spleen, and bone marrow. This leads to the deterioration of the nervous system that creates a domino effect of malfunctions until ultimately it claims the life of the patient. The average life span greatly varies but typically patients do not live past their teenage years (many before the age of 10). The early neurological involvement presents itself, a patients life span generally is lessened. Niemann-Pick Type C manifests differently in each case therefore makes diagnosing and treating extremely difficult. NPC is classified as fatal. There have only been approximately 500 cases ever diagnosed worldwide.
- Enlarged Liver & Spleen
- Liver failure
- Extreme Jaundice at birth
- Difficulties with Speech
- Delayed or non-development of motor skills
- Early development of neurological symptoms
- Poor muscle tone
- Vertical Gaze Palsy
- Sudden loss of muscle strength
- Early lung involvement
Niemann-Pick Type C is considered a lysosomal storage disorder causing the accumulation of cholesterol within the cells. Essentially the recycling factory of the cell breaks down. NPC causes a secondary reduction of ASM activity, which led Types A, B, and C to be considered forms of the same disease. Found on Chromosome 18, Niemann-Pick Type C has two genes called NPC1 and NPC2. NPC1 gene accounts for 95% of all diagnosed cases. 1 out of 150,000 live births are believed to be affected by NPC.
Treatment, Diagnosis, and Screening
Although research is progressing since the discovery of the gene in 1997, there currently are no FDA approved drugs or treatments for Niemann-Pick Type C (as of August 2011). The diagnosis of Niemann-Pick Type C takes place by blood work accompanied with a skin biopsy from the patient. A filipin staining is then done and compared to previous gene mutations to determine diagnoses. Currently there are positive signs from a research clinical trial that NPC can be diagnosed by biochemical markers.
Niemann-Pick Type C is not the first disease that most physicians think of because of it’s rarity.
- Ara Parseghian Medical Research Foundation
- Niemann-Pick Children’s Fund
- National Niemann-Pick Disease Foundation