The method of our time is to use not one but multiple exploration models.

Marshall McLuhan





Multicenter study of mortality in achondroplasia (Hashmi SS et al, 2018)(Online)

Sudden death and higher mortality are recognized in achondroplasia, with acute brainstem compression, a common cause of mortality in children <4 years and cardiovascular deaths being more prevalent in adults. Although, changes in clinical management have improved survival, mortality is still higher than in the general population. The aim of this multicenter clinic-based study was to assess the rate and causes of mortality in patients seen in clinic since 1986. Information was ascertained for achondroplasia patients clinically assessed in four skeletal dysplasia clinics. Data was sent to the National Death Index to identify vital status and cause of death. Standardized mortality rates (SMR) were calculated based on U.S. populations from 1975, 1995, and 2000. Eight hundred fifty-five patients were identified, contributing 12,117 person-years and a total of 12 deaths. One case died in infancy. In the 1-4 year age group, which had the highest age-adjusted SMR, three out of five deaths were because of cerebrovascular/cardiovascular events. Half the deaths in ages 5 through 24 were because of accidental events, including motor vehicle accidents. Decreased mortality in children with achondroplasia was noted, particularly in younger age groups. This improvement in childhood survival is outpaced by improved survival in the general population. Causes of death in these patients have shifted over the last 30 years, with fewer sudden death and deaths because of pneumonia or hydrocephalus countered by more cardiovascular or cerebrovascular and accidental deaths. Clinicians should be aware of the apparent increased risk of vehicular accidents and counsel patients accordingly

In summary, the crude mortality rate is improving for patients with achondroplasia possibly because of better evaluation and management of the condition early in life, and the recognition for early assessment and intervention regarding the craniocervical junction. Nonetheless, the improvement in infant and childhood survival in this population is not keeping pace with the improved survival observed in the population at large. Furthermore, the causes of death in these patients has shifted over the last 30 years, with a decrease in sudden death and deaths because of pneumonia or hydrocephalus, and countered by an increase in cardiovascular, cerebrovascular and accidental deaths. Clinicians should be cognizant particularly of the increased mortality because of vehicular accidents and counsel patients accordingly.

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