Background: The Diagnostic Enigma of hATTR Polyneuropathy

Diagnosing hereditary transthyretin (hATTR)polyneuropathy can be an arduous process. This rare, life-threatening condition leads to the dysfunction of organs and tissues, making early diagnosis essential for slowing its progression.

Yet many multisystemic red flag symptoms of hATTR polyneuropathy often go unnoticed due to their unspecific nature and the time-consuming process of manual screening. The rarity and complexity of this disease often leads to misdiagnoses and diagnostic delays, impacting patients’ health and quality of life.

In the face of these challenges, there is a growing need for advanced, automated screening tools to identify early signs of hATTR polyneuropathy and other rare diseases, ultimately improving diagnosis and treatment outcomes.

This is where technological progress comes in. Artificial Intelligence (AI) models using Natural Language Processing (NLP) algorithms offer the potential to process vast amounts of patient data quickly and accurately.

Goals: AI-Powered Screening for Identifying Symptoms in At-Risk Patients

Methods: A Data-Driven Strategy for Rare Disease Detection

Results: Enhancing Rare Disease Diagnostics with Big Data

Read more about the goals, methods and results of this study in the article published in the Journal of the Peripheral Nervous System.

Hens, D, Wyers, L, Claeys, KG. Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example. J Peripher Nerv Syst. 2023; 28( 1): 79- 85. doi:10.1111/jns.12523

Conclusions: Envisioning a Future with AI-Powered Diagnostics

These promising results emphasize the transformative power of AI and NLP algorithms in identifying at-risk patients and supporting earlier diagnosis and treatment for rare diseases that face diagnostic challenges.

This research paves the way for further exploration and application of AI and NLP in the medical field. By harnessing the power of these innovative technologies, we can improve the life expectancy, prognosis, and quality of life for patients affected by rare diseases.