Nagła nieoczekiwana śmierć w epilepsji: mechanizmy, markery biologiczne i pytania bez odpowiedzi
Sudden Unexpected Death in Epilepsy: Mechanisms, Biomarkers, and Unanswered Questions
W skrócie
Nagła nieoczekiwana śmierć w epilepsji (SUDEP) jest najczęstszą przyczyną śmiertelności u osób chorych na epilepsję. Naukowcy wykazali, że śmierć ta wynika z zapaści krążenia i oddychania po napadzie padaczkowym, przy czym do jej rozwoju przyczynia się wiele czynników, takich jak podatność genetyczna, sen czy pora dnia. Badania wskazują na potrzebę lepszego monitorowania chorych, edukacji pacjentów na temat ryzyka oraz rozwoju nowych technologii do wykrywania napadów, aby zmniejszyć liczbę zgonów.
Oryginalny abstract (angielski)
PURPOSE OF REVIEW: Sudden unexpected death in epilepsy (SUDEP) remains the leading cause of epilepsy-related mortality. While heterogeneous in its pathophysiology, a significant proportion of cases are likely attributable to cardiorespiratory collapse following a convulsive seizure. We synthesize recent mechanistic, biomarker, and prevention literature, moving from retrospective risk inference toward individualized action. RECENT FINDINGS: Human and animal data support a multiple hit model, in which seizure-induced cardiorespiratory dysfunction is necessary but not necessarily sufficient for death: the environment, genetic susceptibility, sleep and circadian state, and potentially as yet unidentified factors determine which seizures prove fatal. The Mortality in Epilepsy Monitoring Units study (MORTEMUS) provided key insights into SUDEP pathophysiology, while multicenter prospective studies continue to examine SUDEP risk factors and mechanisms, and elucidate candidate biomarkers for individual risk stratification. Prevention is slowly moving beyond mainstays of nocturnal supervision and antiseizure therapies, guided by data from animal models of seizure-associated death. Emerging technologies such as seizure detection devices are being widely deployed to enhance protection, though none has been shown in a randomized trial to reduce SUDEP. Efforts toward universal SUDEP education and counseling not only address legal and moral disclosure responsibilities, but encourage patient autonomy and informed decision-making for individual risk reduction. The decade following publication of the MORTEMUS study continues to provide new insights into SUDEP pathophysiology, propose novel candidate biomarkers and offer potential intervention targets. While obstacles remain in the replication of putative clinical biomarkers and the translation of promising findings from animal models, enhancing SUDEP knowledge and effective patient counseling are critical to improving outcomes and saving lives.