Think it’s NP-C?

"..earlier diagnosis means patients can access vital treatment and support, quicker..."

Think NP-C. Talk NP-C is a subsidiary campaign to Think Again. Think NP-C, which focuses on how a patient with undiagnosed Niemann-Pick type C disease (NP-C) or their carer might describe their symptoms to a healthcare professional, to increase clinical recognition. As with other rare diseases, the signs and symptoms of NP-C are highly variable and not specific to the disease, which means that NP-C often goes undetected or is misdiagnosed.

By assisting physicians to recognise the symptoms of NP-C as they are described in everyday language and link them to the disease, earlier diagnosis and earlier access to care is achievable.

If a friend, family member, or patient presents with symptoms which one may consider to be related to Niemann-Pick disease type C (NP-C), then you should immediately refer this person to a specialist centre for diagnostic testing, the quicker the process is initiated the better. Confirmation of diagnosis will not only help to facilitate access to treatment but will also enable patients and their families to seek help and support from charities and other associated organisations.

Help to decrease the confusion and frustration of the diagnostic odyssey, Think Again. Think NP-C.

FAQs

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 NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.

Earlier recognition of key symptoms of NP-C is critical in order to achieve an earlier diagnosis for patients. The symptoms of NP-C can be categorised as systemic (visceral), neurological or psychiatric. The most common symptoms are shown in the table on the right.

One of the strongest indicators of NP-C is when a patient presents with symptoms in more than one of these categories. Therefore, linking these symptoms together can facilitate fast and differential diagnosis of NP-C.

Age of onset –click for full size Symptoms present at different ages and in different combinations. The age of onset of visceral symptoms is independent of the onset of neurological disease, which occurs along a continuous spectrum with considerable overlap between the age categories as shown in the diagram (Vanier 2010).

KEY SYMPTOMS OF NP-C – Download Here

AGE OF ONSET GRAPHIC  – Download Here

NP-C can be difficult to recognise because the symptoms can occur at different times and with varying severity in each person. For some patients, symptoms are quickly linked to NP-C if their doctor knows about NP-C. However, for others, it may take many different doctors a number of years to finally link them together and suspect NP-C as there is a lack of clinical awareness about the disease. Once NP-C is suspected patients are referred on to a specialist centre for diagnostic testing.3

If you suspect a patient has NP-C then you can find details of specialist centres in your country on Suspect NP-C?

  • Orpha.netis a database of information on rare diseases and orphan drugs that aims to help improve the diagnosis, care and treatment of patients with rare disease.
  • INPDA.orgis the International Niemann-Pick Disease Alliance (INPDA) website that provides information about the non-profit organisations that are in place across the globe to support patients and families diagnosed with NP-C.
  • INPDR.orgis the International Niemann-Pick Disease Registry (INPDR) website, which provides information about all types of Niemann-Pick diseases and the importance of the registry in collecting data.

You can also find more information on the INPDA member organisation websites, which can be found on About the INPDA.

Faces of NP-C

Do you have more questions than answers? Try our FAQs page.

References