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.

Key words: Amyloidosis, familial amyloidosis, polyneurophaty, diagnosis, biopsy.