FAQs

Niemann-Pick diseases are a group of rare, inherited metabolic disorders caused by the body’s inability to properly break down certain lipids (fats). This leads to a build-up of harmful substances in cells, affecting organs such as the liver, spleen, brain, and lungs. There are several types, including Type A, Type B, and Type C, each with varying symptoms and severity.

Symptoms vary by type but may include an enlarged liver or spleen, difficulty with movement or coordination, developmental delays, seizures, respiratory problems, and neurological decline. Type A is typically more severe with early onset, whilst Type B and Type C may present later with milder or more diverse symptoms.

Diagnosis often involves a combination of clinical assessments, genetic testing, and specialised tests such as enzyme activity assays (for Types A and B) or biomarker analysis (for Type C). A biopsy or blood test may also be used to confirm the diagnosis.

There is no cure for Niemann-Pick diseases, but treatments can manage symptoms and improve quality of life. For Type B, treatments may include supportive care for organ function. For Type C, medicines like miglustat may slow disease progression in some cases. Research into new therapies, including gene therapy, is ongoing.

Yes, Niemann-Pick diseases are genetic and typically inherited in an autosomal recessive pattern, meaning both parents must carry a mutated gene for a child to be affected. Genetic counselling is recommended for families with a history of the disease.

NPUK provides emotional and practical support, including information resources, family support services, advocacy, and connections to medical professionals. We also organise community events and fund research to improve understanding and treatment of Niemann-Pick diseases.

You can support NPUK by volunteering, fundraising, donating, or raising awareness about Niemann-Pick diseases. Visit our website or contact us to learn more about opportunities to contribute.

NPUK’s website provides updates on current research and clinical trials related to Niemann-Pick diseases. You can also contact our team for guidance on accessing the latest information or connecting with researchers.