NPC 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 NPC.
NPC is an inherited condition and can present at any age, affecting infants, children, adolescents and adults. The incidence of NPC 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 NPC because of its highly heterogeneous clinical presentation.
NPC 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.
Symptoms of NPC 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).
How is NPC diagnosed?
NPC is difficult to diagnose because the symptoms can occur at different times and with varying severity in each person. A healthcare professional needs to recognise the symptoms of NPC and then link them together in order to Think Again. Think NPC. When there is a suspicion of NPC the patient is then referred on to a specialist centre for testing to confirm a diagnosis.
Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them. Early diagnosis is also important as NPC is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease. Early diagnosis can only be achieved if there is an awareness of NPC amongst healthcare professionals who may see a patient with NPC.
If you are a healthcare professional interested in speaking to an NPC specialist, please contact us and we will try to put you in touch with a specialist.
The link above provides a list of specialist centres across the UK, both adult and paediatric, and how to contact them.
International Specialist Centres
The link above can be used to search for specialist centres by disease type and country for clinical expert centres and separately for diagnostic centres, if required.
"Niemann-Pick type C disease (NPC) is a rare genetic disease. It affects all ages"