Case Report
Volume: 8 | Issue: 7 | Published: Jul 26, 2024 | Pages: 139 - 145 | DOI: 10.24911/ejmcr.173-1660235974
Weight loss, diarrhea, and polyneuropathy: could it be amyloidosis?
Authors:
Luis Francisco Pineda Galindo
, Zully Esmeralda Contreras Cortes
, Andrea Avila Martinez
, Maria del Rosario Mora Campos
, Elsa Acosta Jimenez
, Armando Perez Torres
Article Info
Authors
Luis Francisco Pineda Galindo
Department of Internal Medicine, Specialities Hospital National Medical Center La Raza IMSS, Mexico City
Zully Esmeralda Contreras Cortes
Department of Internal Medicine, Specialities Hospital National Medical Center La Raza IMSS, Mexico City
Andrea Avila Martinez
Department of Internal Medicine, Specialities Hospital National Medical Center La Raza IMSS, Mexico City
Maria del Rosario Mora Campos
Department of Pathology, Specialties Hospital National Medical Center La Raza, IMSS, Mexico City, Mexico
Elsa Acosta Jimenez
Department of Pathology, Specialties Hospital National Medical Center La Raza, IMSS, Mexico City, Mexico
Armando Perez Torres
Department of Cell and Tissue Biology, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
Publication History
Received: May 14, 2023
Revised: December 19, 2023
Accepted: December 19, 2023
Published: July 26, 2024
Abstract
Background: Amyloidosis is a multisystemic disease that may be hereditary, characterized by the deposit of amyloid in the extracellular space. Transthyretin-mediated (ATTRm) amyloidosis is the most common subtype of heredofamilial amyloidosis. The diagnosis is based on clinical suspicion and amyloid in tissues. Hepatic transplantation is the only treatment that prevents the synthesis of the amyloidogenic variants of transthyretin protein. Case Presentation: A 34-year-old male presented with weight loss, gastrointestinal symptomatology, and polyneuropathy associated with histopathologic deposits of amyloid in gastrointestinal and fat tissue as well as peripheral nerve. Conclusion: Hereditary familial amyloidosis (HFA) is a relatively rare disorder that leads to erroneous and delayed definitive diagnosis. Therefore, the diagnosis should be first based on a suspicion of the disease, and then proceed according to complete protocol.
Keywords: Amyloidosis, familial amyloidosis, polyneurophaty, diagnosis, biopsy, green
