TTR amyloidosis: challenges between clinical features and diagnosis. A case report

Efraín S. Guzmán-Bedoya, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira, Colombia
Geraldine V. Álvarez, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira, Colombia
Daniel A. Rodríguez-Cruz, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira, Colombia
Manuel A. Duque-Ospina, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira, Colombia
Diego A. Medina-Morales, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira; Department of Internal Medicine, Hospital Universitario San Jorge, Pereira; Colombia
Santiago Manrique-Castaño, Department of Medicine, Faculty of Health Sciences, Grupo de Investigación en Medicina Interna, Universidad Tecnológica de Pereira, Pereira; Department of Hematology, Universidad de Antioquia, Medellin. Colombia

Amyloidosis is a group of disorders characterized by extracellular deposition of misfolded amyloid proteins in various organs and tissues, leading to progressive dysfunction and, in many cases, organ failure. There are several types of amyloidosis; the most common is AL amyloidosis associated with plasma cell disorders and AA amyloidosis associated with chronic inflammatory diseases. Particularly, transthyretin amyloidosis (ATTR) is a rare disease characterized by deposition of extracellular misfolded fibrils creating amorphous aggregation and affecting cardiac and nervous tissues. The clinical presentation is highly variable and depends on the organ involved, which can delay diagnosis. Diagnosis requires a combination of clinical, biochemical, imaging, and histopathologic studies, including Congo red staining of biopsies and advanced techniques such as mass spectrometry for amyloid typing. Treatment varies according to etiology and includes chemotherapy for AL amyloidosis, immunosuppressive therapy for AA amyloidosis, mRNA knockdown and transthyretin stabilizers for ATTR, and in some cases organ or bone marrow transplantation. This case report presents a patient with amyloidosis with multiple organ involvement and illustrates the challenges of diagnosis and treatment.

Keywords: Amyloidosis. Transthyretin amyloidosis. Val142Ile. Heart failure.