Niemann-Pick B (NPB)

What is Niemann-Pick B (NPB) disease?

Niemann-Pick B disease is a lysosomal storage disorder. Your body is made up of trillions of individual cells and each cell contains a small part called the lysosome. This is primarily responsible for breaking down and recycling worn out cell components. Inside the lysosome are enzymes which perform this very important housekeeping role. In NPB disease the acid sphingomyelinase enzyme is not working effectively, allowing these products to build up and become stored in very specific areas of your body. There are many different enzymes in your lysosomes, and deficiencies of each enzyme will cause a different disease. All of these different diseases together are called lysosomal storage disorders.

How will this affect me?

In NPB disease. the cells most commonly affected can be found in the liver, spleen, bone marrow and lungs. This means you may experience, or be at risk of, the following:

• enlarged liver/spleen
• difficulty with breathing
• fatigue
• increased risk of infection
• increased risk of bleeding
• increased stress on the heart

The progress of the disease in adults is extremely variable, with some people not really noticing any symptoms whilst others are more severely affected.

If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse.

Is there any treatment?

At the moment there is no specific treatment for NPB available on the NHS in the UK. We work very closely with colleagues from around the world to keep up to date and participate in research in this field.

How did I get NPB disease?

NPB is a genetic condition, which means that you inherited it from your parents. There are instructions in your genes for making lysosomal enzymes; a small change in your DNA can be enough to stop the enzyme from working properly.

You have two copies of every gene, having received one from each parent. To be affected by NPB you need to have two copies of the gene with the DNA change on it – one from each parent. Only receiving one affected copy means you are a carrier and will not be affected.

Please do talk to your doctor or specialist nurse who can explain this in more detail.

What do I need to do next?

• Do ask your doctor or nurse for more information.
• Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care and can keep you informed of any new developments.
• Do maintain a healthy lifestyle:
  • avoid smoking
  • keep alcohol consumption to a minimum
  • maintain a healthy weight
  • take some regular exercise

You may find it helpful to contact your patient support group:
Niemann-Pick UK (opens in a new tab) – Tel: 0191 4150693 – email Niemann-Pick UK

Contact information

Lysosomal Disorders Unit (LDU) Box 135, Addenbrooke’s Hospital, Hills Road, Cambridge. CB2 0QQ – 01223 274634 – email the LDU team.
Please note: the department is open Monday to Friday 08:30 (8:30am) to 17:00 (5pm). If you are unwell outside of these hours you should seek medical advice from your local healthcare team. If your emergency doctor needs specific advice, they should call the Contact Centre on 01223 245151 and ask for the metabolic consultant on call.