Síntomas gastrointestinales inespecíficos como forma de presentación de polineuropatía amiloidótica familiar PAF-TTR. Reporte de un caso

Abstract

Introduction

Familial transthyretin amyloidotic polyneuropathy (FAP-TTR), an autosomal dominant disease. It generally manifests with cardiomyopathy and polyneuropathy, however, gastrointestinal (GI) symptoms are common. We report a patient with AF-TTR and initial GI symptoms.

Clinical case

A 67-year-old man presented with burning neuropathic pain. History, diarrhea alternating with constipation and weight loss, diagnosis of irritable bowel. Physical examination alteration of hot-cold sensitivity tests. Sensorimotor axonal polyneuropathy nerve conduction study. Transthyretin gene analysis heterozygous variant p.Val50Met, PAF-TTR diagnosis.

Conclusions

The non-specificity of GI symptoms at the onset of the condition is a challenge in the diagnostic suspicion of this entity.