What is NP-C disease?

"Niemann-Pick type C disease (NP-C) is a rare genetic disease. It affects all ages"

What is NP-C?

NP-C is a progressive, irreversible and chronically debilitating lysosomal storage disease. It is caused by a defect in lipid transportation within the cell. This leads to intracellular accumulation of lipids in the brain, liver and spleen causing the symptoms of NP-C.

NP-C is an inherited condition and can present at any age, affecting infants, children, adolescents and adults. The incidence of NP-C is approximately 1 in 90,000 live births. However, this is likely to be an underestimate due to a lack of clinical awareness of the disease and the difficulty in recognising NP-C because of its highly heterogeneous clinical presentation.

NP-C is commonly undetected or misdiagnosed. This is often due to its highly variable clinical presentation characterised by a wide range of symptoms that, individually, are not specific to the disease. The journey to diagnosis can therefore be long and frustrating for patients and their families. The average delay in diagnosis is five to six years from onset of neurological symptoms.

What are the symptoms of NP-C?

Symptoms of NP-C vary widely due to the storage of fatty molecules affecting different parts of the body. Symptoms include hepatosplenomegaly (enlargement of the liver and spleen), ataxia (balance disorder, clumsiness and frequent falls), developmental delay, cognitive decline, organic psychosis and vertical supranuclear gaze palsy (the inability to rapidly move the eyes up and down voluntarily).1,2

Visit Could it be NP-C? for more information

How is NP-C diagnosed?

NP-C is difficult to diagnose because the symptoms can occur at different times and with varying severity in each person.1 A healthcare professional needs to recognise the symptoms of NP-C and then link them together in order to Think Again. Think NP-C. When there is a suspicion of NP-C the patient is then referred on to a specialist centre for testing to confirm a diagnosis.1

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Why is it so important to increase awareness of NP-C?

Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them.2 Early diagnosis is also important as NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.2,3,5 Early diagnosis can only be achieved if there is an awareness of NP-C amongst healthcare professionals who may see a patient with NP-C.

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How do I get in touch with an NP-C specialist?

If you are a healthcare professional interested in speaking to an NP-C specialist, please contact us and we will try to put you in touch with a specialist.

Alternatively, to find your nearest NP-C specialist centre, visit Suspect NP-C?

Where is my nearest NP-C specialist centre?

To find your nearest NP-C specialist centre, visit Suspect NP-C?

How was the Think Again. Think NP-C campaign developed?

The INPDA is leading the Think Again. Think NP-C campaign, which aims to support healthcare professionals who are unfamiliar with NP-C to recognise the key signs and symptoms of NP-C to help patients by speeding up diagnosis and ultimately optimising care and treatment outcomes.

Visit About the Think Again. Think NP-C campaign for more information