Amyloidosis, an orphan disease: creation of an institutional registry of amyloidosis

Abstract

Systemic amyloidosis is a disease in which misfolded proteins in a fibrillar form deposit as an amorphous material in various tissues, causing progressive organ dysfunction. Amyloidosis prevalence varies according to the populations and the type of amiloidogenic protein. In Argentina, little is known about the prevalence of the disease. The resources to make a definitive diagnosis are limited and it represents a challenge to the treating physician regarding the diagnosis, treatment and prognosis of the disease. We found no data on the prevalence or incidence or prognosis of amyloidosis in our country. There are no existing registries for every type of amyloidosis either national or in Latin America that could describe the behavior of this disease. Creating a prospective system that generates data about the evolution and prognosis was essential. The Institutional Registry of amyloidosis is an organized system of systematic data collection of a lot of patients quickly and efficiently on Amyloidosis. Since 2010, the Italian Hospital of Buenos Aires established The Institutional Registry of Amyloidosis of the Italian Hospital in order to a better understanding and characterization of the natural history of this disease. This data can be used to develop new treatment guidelines and recommendations for clinical practice and to inform and educate physicians on the management of this disease. Currently, low suspicion and limited resources for definitive amyloidosis diagnosis challenge the treating physician regarding the classification, treatment and prognosis