Biological diagnosis of Alzheimer’s disease and the issue of stigma

Abstract

Starting from the early years of the 21st century a shift occurred in the conceptualization of Alzheimer’s disease (AD). Thanks to advances in the biomolecular field, new criteria of diagnosis and a new lexicon such as “preclinical AD”, “prodromal AD”, “at risk for AD” have been introduced. The disease has been reconceptualized as a slow and progressive pathological process beginning decades before clinical symptoms of dementia occurrence. Today, due to biomarkers detected in cerebrospinal fluid and on neuroimaging, there is the opportunity of a preclinical diagnosis of dementia in asymptomatic or minimally symptomatic individuals. The key characteristic of biomarkers is that they appear to reflect earlier brain changes eventually leading to clinical dementia. Originally reserved for research purposes, biological diagnosis and new lexicon seem to be now progressively included in clinical practice. If this trend is in line with the most advanced scientific achievements, on the other hand it raises some ethical concerns, mainly linked to stigma and discrimination expected toward people with a diagnosis of pre-dementia and their family caregivers. It is good to keep in mind that there is no currently certainty that asymptomatic will become symptomatic individuals and consequently further studies are needed. The purpose of this article is to offer a historical overview and ethical discussion about the conceptual changes in Alzheimer’s disease, from Alois Alzheimer to current era.