Evolución de los subtipos, características clínicas y métodos diagnósticos de la amiloidosis en un registro institucional

Introduction and objectives

Amyloidosis is a rare disease. Advances in understanding and diagnosis have increased detection of the disease. Our objective was to describe the evolution in the distribution of amyloidosis subtypes, the clinical characteristics and diagnostic methods used in an Institutional Registry of Amyloidosis in Argentina over 18 years.

Methods

Consecutive patients with AL amyloidosis, ATTR wild type, ATTR variant, and AA between 1 January 2005 and 31 December 2022 were included. The evolution in the distribution of subtypes, clinical characteristics and diagnostic modalities was analyzed in three subperiods: 2005-2010; 2011-2016; 2017-2022.

Results

A total of 258 patients were included. The distribution of amyloidosis subtypes varied throughout the study period. AL amyloidosis was the most frequent in the first subperiods (85% and 63% respectively), while ATTR wild type amyloidosis predominated in the last subperiod (49%) (P < .001). The age at diagnosis increased from 60 years [interquartile range (IIC): 52-69] between 2005-2010 to 76 years [IIC: 66-83] between 2017-2022 (P < .001). Heart failure was common in all subperiods, with an increase in the last one. The history of carpal tunnel was observed more in the last subperiod.

Conclusions

In this study we observed an increase in the detection of cases of systemic amyloidosis and ATTR wild type in particular. In addition, a transition towards non-invasive diagnostic methods was evidenced, such as DPD scintigraphy, reflecting technological advances in disease detection.