Diarreia crónica

we report a case of a 46-year old woman with chronic diarrhoea for the previous eight years associated with significant weight loss. subsequently the patient developed neurological symptoms with recurrent syncope events as well as urinary and anal incontinence. the diagnostic approach included a detailed clinical history and physical examination plus laboratory, endoscopic, radiology and neurological exams. a definitive diagnosis was made of familial amyloidotic polyneuropathy after confirmation of the specific protein mutation - ttrmet30- linked to this condition. the patient underwent successful liver transplantation.