new npc suspicion index :

np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifestations. overall various clinical manifestation of npc disease can be categorized in three main groups: visceral or systemic, neurological and psychiatric. the most important clinical features of each group are as follow: visceral (prolonged neonatal jaundice, unexplained splenomegaly with or without hepatomegaly), neurological (vertical supranuclear gaze palsy, gelastic cataplexy), psychiatric (early cognitive decline or dementia).in addition of variable clinical features, npc disease has a wide range of age manifestation, from neonatal period through adulthood. neurologic features unlike visceral symptoms are not common under early infancy period. after that neurological symptoms become prominent and finally from juvenile period through adolescent/adult age psychiatric symptoms in addition of neurological signs will present.therefore with considering the variability in clinical presentations and age manifestation of npc disease, it seems a little hard to diagnose the disease.  the np-c guidelines working group revised the recommendations for the diagnosis and management of niemann-pick type c disease in 2012, to provide the most up-to-date information about np-c. a new tool – the np-c suspicion index – has also been developed for healthcare professionals to help identify patients for whom further investigation is required. this will hopefully help to achieve earlier and improved diagnosis of np-c in patients suspected of having the disease . suspicion index is one of important tools for early diagnosis of npc disease that developed in 2012 by wijburg et al. early diagnosis is important, because it help us to start early treatment with zavesca (the only available drug for npc disease that acts as a substrate reduction therapy). this process finally helps to patients with reducing the progression of disease. from a physician’s point of view the suspicion index works both as a reminder of the complex and varied symptoms characteristic of np-c, as well as support in making the right referral decision.suspicion index likes a checklist and fill it tells us the npc risk prediction score. the three main categories of disease symptoms have been ranked into five groups according it’s importance. co-occurrence of symptoms (within and across categories) and family history are also taken into account to define the risk prediction score.