Charata

This research focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non-endemic area. It aims to describe various phenotypic features including preclinical, heart-related, neurological, and mixed symptoms in patients carrying this genetic variant. The goal is to identify early signs of the disease in patients who initially show no symptoms, which could help improve early detection and treatment approaches. Participants will undergo a series of detailed examinations and tests. These include a full physical checkup covering all body systems, neurological tests assessing motor strength and sensation, and heart evaluations such as electrocardiograms, 24-hour Holter monitoring, and advanced echocardiography. Additional assessments involve quality of life questionnaires, nerve impairment scoring, autonomic symptom evaluation, electromyograms, and specific imaging scans. Blood and urine samples will also be collected to analyze biomarkers related to heart and nerve function. During the study, participants will have scheduled clinical visits to perform these assessments within a controlled timeframe, often within family groups sharing the Val50Met variant. Researchers will carefully monitor and document the phenotypic characteristics over two years to better understand the progression and early manifestations of the condition. The main outcome is to describe the detailed clinical profiles of carriers, supporting improved identification and management of hereditary ATTR amyloidosis.