FAMILIAL AMYLOID WITH A TRANSTHYRETIN LEUCINE-33 MUTATION PRESENTING WITH ASCITES

A 65-years-old female presented with symptomatic ascites. Light and el ectron microscopy examination of omental and peritoneal tissue obtaine d at exploratory laparotomy revealed amyloidosis, Immunochemical studi es of the amyloid tissue showed positive staining with antibodies to t ransthyretin. Polymerase chain reaction (PCR), single strand conformat ion polymorphism analysis, and direct DNA sequencing demonstrated a tr ansthyretin phenylalanine to leucine substitution at codon 33. This is only the second reported case of a transthyretin leucine 33 mutation. Moreover, this patient is unique among cases of transthyretin associa ted amyloidosis with the clinical presentation of ascites, (C) 1998 Wi ley-Liss, Inc.