Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites.


A 65-year-old female presented with symptomatic ascites. Light and electron microscopy examination of omental and peritoneal tissue obtained at exploratory laparotomy revealed amyloidosis. Immunochemical studies of the amyloid tissue showed positive staining with antibodies to transthyretin. Polymerase chain reaction (PCR), single strand conformation… (More)