Trends in tuberous sclerosis deaths in the United States, 1983-1997

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder associated with life-threatening renal, cardiac, neurologic, and pulmonary complications. Clinical studies have suggested decreased survival rates overall relative to the general population. This population-based study examined national mortality trends among people who had TSC coded on their death certificates from 1983 through 1997.

We analyzed the Multiple-Cause Mortality Files compiled by the National Center for Health Statistics. All cases that contained the unique TSC code (759.5) anywhere in the record were selected. Age-adjusted mortality rates were computed by the direct method using the 2000 U.S. standard population. Joinpoint regression was used to identify trends in TSC-associated mortality rates over time.

Of the 32,674,367 decedents in the study period, 688 had TSC coded on their death certificates. Of these, 55.5% had TSC coded as the underlying cause of death. The 10-14 and 5-9 year age groups had the highest proportion of deaths involving TSC. The median age of death was 20.5 years in 1983 and 33 in 1997, but with age-adjustment, no significant trend was detected in mortality rates by sex or race over the study period. Although mortality rates among infants were higher in 1995-1997 compared to 1983-1985, the changes in rates were not statistically significant for any age groups.

Although the median age of death increased, no significant trend was detected in age-adjusted TSC-associated mortality rates during the study period. Further analyses will be necessary to examine the role of temporal changes in coding or clinical recognition of TSC.