Clinical Manifestations

Prognosis

The variability of NPC presentations provides a wide range of life expectancy. In general, early-onset patients tend to die during childhood or early adolescence, while patients with later-onset disease who appear to be less drastically affected can live into late adulthood. To establish a rough prognosis, physicians must take into account the age at onset, duration of disease (at presentation), risk of complications, probable outcomes, general death rates, and other outcome possibilities. Naturally, such forecasts can be unpredictable in NPC.

National patient databases such as that recently published by Garver et al.¹ are useful in this respect, as they provide a broad view of patient survival (Figure 7). Amongst the 87 respondents in the US database survey, the average age at diagnosis was 10.4 years, while the average age of death was 16.2 years; more than half of patients died before the age of 12.5 years.

Figure 7. Age of NPC1 patients (A) at diagnosis, (B) at death: data from a US national NPC1 database (adapted with permission from Garver et al.¹)

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Reference:
1. Garver WS, Francis GA, Jelinek D et al. The National Niemann–Pick C1 database: report of clinical features and health problems. Amer J Med Genet Part A 2007;143A:1204–11.

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