It’s never too late to make the correct diagnosis

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The value of a postmortem examination is currently underestimated and often questioned in an era of modern medicine when patients are extensively evaluated premortem via high quality imaging and sophisticated biochemical and molecular testing. In my experience, however, there is substantial reward derived from pursuing the correct diagnosis by examination of tissues unobtainable prior to death. The autopsy plays an important role in confirming clinical impressions, assessing the adequacy of the premortem evaluation, and indicating the effect of therapeutic interventions. Obviously the results will depend on the expediency and diligence with which the investigation is performed.

Ernst et al reviewed their experience over 5 years during which they assess the impact of performing an expedited “metabolic autopsy” to identify the cause of death. They define the “metabolic autopsy” as the collection of tissues—muscle and skin predominately—as soon as possible after death, usually because of the suspicion of an inborn error of metabolism based on the presence of lactic acidosis, seizures, etc. Of course, for those patients who had an extensive and exhaustive evaluation prior to death, little new diagnostic information was gained by this additional step. There were, however, several cases in which the “metabolic autopsy” was of significant value in identifying an undiagnosed metabolic disease. These were most likely those cases in which premortem evaluation was limited for whatever reason. Discerning the correct diagnosis has obvious beneficial effects, including an impact on pregnancy planning.

This report may be an initial step in the development of recommendations regarding the value of “stat” tissue/bodily fluid procurement and storage to complement or substitute for a postmortem exam whether or not the family consents to a full autopsy. Clearly the “metabolic autopsy” is not a substitute for premortem clinical acumen or for standard postmortem examinations—these remain the preferred approach to making the correct diagnosis.