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What is Niemann-Pick type C disease?

Niemann-Pick type C disease (NP-C) is a rare genetic disease where fatty molecules (lipids) slowly build up in the body to levels that can eventually cause serious problems.

Fatty molecules, such as cholesterol and glycosphingolipids, are vital to many organs in the body. In patients with NP-C, the movement and storage of fatty molecules in cells are affected and the body is prevented from processing them properly.1 Instead of being recycled or reused, these molecules build up in various parts of the body, including the brain, liver and spleen.2 Over time, these fatty molecules reach harmful levels and cause damage to the cells.3

NP-C is an inherited condition that can affect infants, children and adults. It is estimated that it affects about one in every 120,000 births worldwide.2 Symptoms of NP-C vary widely due to the storage of fatty molecules affecting different parts of the body. At birth, most babies experience jaundice for a few days (a yellow coloring of the skin), but in a baby with NP-C, this can last for weeks or even longer. Some patients can also have an enlarged liver or spleen when they are quite young. Others have symptoms that resemble learning difficulties, such as difficulty counting or reading, or muscle problems that affect their ability to balance or walk properly.2 Adults may present with memory or psychiatric problems. As a result, diagnosis can be difficult and the reported number of diagnosed patients may be underestimated.1,3

Current treatment is aimed at slowing down progression of the disease and trying to preserve function and quality of life.1 Early, correct diagnosis of NP-C is extremely important as it allows prompt access to treatment. This can help maintain function and quality of life for as long as possible.1

NP-C is named after the two doctors who first described its symptoms. Dr Albert Niemann, who first described the disease in children in 1914 and Dr Ludwick Pick, who carried out studies in 1920, which confirmed it to be a new type of storage disorder.2,3
 

References

  1. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012;106(3):330–344.
  2. Vanier MT. Niemann-Pick disease Type C. Orphanet Journal of rare Diseases. 2010;5:16.
  3. Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.