There are a number of types of Niemann-Pick disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow. Most types of Niemann-Pick disease involve progressive neurological deterioration. Both sexes are equally affected. The main types of Niemann-Pick disease are:

Niemann-Pick is a group of rare, inherited, metabolic conditions that normally affect children, but can sometimes occur in young adults. These conditions are caused by specific genetic mutations. There are three commonly recognised forms: Types A, B and C. Current medical opinion suggests that Types A and B may be opposite ends of a spectrum of the same disease. Type C is very different at both a genetic and a biochemical level and has also, in the past, been known by other names including: Nevilles Disease, Sphyngomyelin Lipidosis, DAF Syndrome and Juvenile Dystonic Lipidosis.

Niemann-Pick Type A
NP-A is an acute form and normally reveals itself within the first few months of a baby's life. Caused by an enzyme deficiency, it is a severe neurological disease. Symptoms may include early feeding difficulties, failure to thrive and an abnormally large abdomen. It is a degenerative disease and there is a progressive loss of motor skills. Life expectancy rarely exceeds five years of age.

Niemann-Pick Type B
In NP-B there is generally little if any neurological involvement. Growth rate may be slow and puberty is often delayed, but patients generally survive into their teens and adulthood. Symptoms include an enlarged spleen, which can usually be detected in early childhood, and an enlarged liver, which normally happens a little later. Some patients develop repeated respiratory infections.

Niemann-Pick Type C
The presentation of NP-C is very variable and the onset of symptoms may occur at any time from early infancy to adulthood, though it most usually affects children of school age. Life expectancy varies considerably and there are a variety of symptoms. These may include an enlarged spleen and liver and, in newborn babies, there may be prolonged jaundice (see entry, liver disease). The disease is neurologically degenerative leading to progressive loss of motor skills and difficulty with walking. Speech can become slurred and swallowing problems may develop. Patients may experience sudden loss of muscle tone, which can lead to falls, also epileptic seizures that are generally difficult to control. A symptom that is particularly suggestive of NP-C is difficulty with upward and downward eye movement. In those young adults, where onset is later, psychological problems and dementia can be major symptoms.

Niemann-Pick Type D is a form of Niemann-Pick Type C found in a population of Nova Scotia ancestry.

Biochemical Lesion NP-A and NP-B are primary deficiencies of sphyngomyelinase. NP-C/NP-D is a totally different disorder with an, as yet, unidentified lesion in intracellular cholesterol transport.

Inheritance patterns
Autosomal recessive.

Prenatal diagnosis
For Types A, B and most forms of Type C, this is possible by chorionic villus sampling at ten to twelve weeks or amniocentesis at sixteen weeks.

Medical text last updated July 2007 by Jackie Imrie SRN RSCN MSc, Clinical Nurse Specialist- Niemann-Pick Disease, Royal Manchester Children's Hospital, Manchester, UK. Approved by Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

NIEMANN-PICK DISEASE GROUP (UK)

Niemann-Pick Disease Group (UK)
11 Greenwood Close
Washington
NE38 8LR
Tel: 0191 415 0693
e-mail: niemann-pick@zetnet.co.uk
Web: http://www.niemannpick.org.uk

The Group is a National Registered Charity No. 1061881, established in 1991. The Group supports families of children with all forms of Niemann-Pick disease, which has also previously been known as Neville's disease, Sphingomyelin Lipidosis, DAF syndrome and Juvenile Dystonic Lipidosis. It offers contact with others in similar circumstances. It publishes a newsletter and has information available, details on request. The Group has 150 member families.

Group details last confirmed February 2008.

As Niemann-Pick disease is a metabolic disease, support and advice are also available from Climb (see entry Metabolic diseases). Support for dementia in Niemann-Pick disease can be obtained from the Alzheimer's Society.