Long chain fatty acid oxidation disorders (LCFAODs) can be potential causes of sudden unexpected death (SUD), among other cardiac, neurologic and metabolic entities, according to an article recently published in Cureus.
“Since many SUD causes have an underlying genetic mutation, it is important to understand the genetic variations not only to recognize the cause of death but also to undertake further preventive measures for surviving relatives,” the authors wrote.
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This review took into account 42 different previous publications regarding possible hereditary cases of SUD and the role of performing postmortem genetic testing in patients who experienced SUD, the authors noted.
According to the World Health Organization, SUD includes all instantaneous deaths or fatal outcomes not produced by a known disease or traumatic event and that occurs within 24 hours from the onset of symptoms in a previously healthy subject, they added.
An estimate from the literature suggests that the causal agent of up to 40% of SUDs is still inconclusive after a macroscopic evaluation and negative autopsy. Given this data, the authors propose including genetic studies as part of the forensic protocol, an addition they termed “molecular autopsy”.
For example, among the metabolic triggers of SUD are LCFAODs and other fatty acid oxidation disorders in general. These entities have a widely varying presentation and, unfortunately, in some cases, might debut as SUD.
Recalling that the pathophysiology of LCFAODs is determined by genetic mutations that can be hereditary, identifying this diagnosis as a cause of SUD will translate into valuable information for the patient’s family members.
“The definitive diagnosis of metabolic disorders in SUD cases needs full postmortem examination and metabolic autopsy, which include not only genetic analysis but also a microscopic examination of the liver and postmortem blood acylcarnitine analysis,” the authors highlighted.
The importance of molecular autopsy was clearly evidenced in a study that demonstrated that up to 50% of relatives of patients who experienced SUD were also carrying the genetic mutation.
Alzahrani S, Alswaimil N, Alammari A, et al. Postmortem genetic testing in sudden unexpected death: a narrative review. Cureus. Published online January 13, 2023. doi:10.7759/cureus.33728