Progressive Multiple Mononeuropathy in a Patient With Familial Transthyretin Amyloidosis After Liver Transplantation. Issue 3 (March 2022)

• Record Type: Journal Article
• Authors: Seibert, Kaitlin; Wlodarski, Richard; Sarswat, Nitasha; Appelbaum, Daniel; Issa, Naoum P.; Soliven, Betty; Rezania, Kourosh
• Is Part Of: Journal of clinical neuromuscular disease. Volume 23:Issue 3(2022)
• Publication Date: 2022-03
• Subjects: transthyretin amyloidosis -- mononeuropathy multiplex -- patisiran -- liver transplantation -- PYP scan; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000368
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract : Abstract: Valine 122 isoleucine (V122I) is the most common mutation associated with familial transthyretin-related amyloidosis (fATTR) in the metropolitan United States. V122I-related fATTR usually presents with cardiomyopathy. When polyneuropathy is encountered, it is usually mild, distal, and axonal in nature. Although liver transplantation improves survival for fATTR neuropathy patients, neuropathy may progress post liver transplantation because of the deposition of wild-type transthyretin. We report a patient with homozygous V122I mutation who presented with asymmetrical, upper limb predominant neuropathy rather early in his disease course, which progressed for a period of 5 years after liver transplantation before stabilization with the initiation of patisiran.