familial amyloid polyneuropathy1. J Peripher Nerv Syst. 2015 Dec 13. doi: 10.1111/jns.12153. Epub ahead of printRed-flag symptom clusters in transthyretin familial amyloid polyneuropathy.Conceio I(1), Gonzlez-Duarte A(2), Obici L(3), Schmidt HH(4), Simoneau D(5),Ong ML(6), Amass L(6).Author information: (1)CHLN - Hospital de Santa Maria, and Clinical and Translational PhysiologyUnit, Physiology Institute, Faculty of Medicine-IMM, Lisbon, Portugal.(2)Instituto Nacional de Ciencias Mdicas y Nutricin Salvador Zubirn, MxicoCity, Mxico. (3)Amyloidosis Research and Treatment Center, Fondazione IRCCSPoliclinico San Matteo, Pavia, Italy. (4)Klinik fr Transplantationsmedizin,Universittsklinikum Mnster, Mnster, Germany. (5)Pfizer IO, Paris, France.(6)Pfizer Inc, New York, NY, USA.BACKGROUND: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare,progressive, life-threatening, hereditary disorder caused by mutations in thetransthyretin gene and characterized by extracellular deposition oftransthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease isdifficult to recognize due to phenotypic heterogeneity.METHODS: Based on published literature and expert opinion, symptom clusterssuggesting TTR-FAP are reviewed, and practical guidance to facilitate earlierdiagnosis is provided. Results and conclusions TTR-FAP should be suspected ifprogressive peripheral sensory-motor neuropathy is observed in combination withone or more of the following: family history of a neuropathy, autonomicdysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAPis suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy,large- and small-fiber assessment by nerve conduction studies and autonomicsystem evaluations, and cardiac testing should be performed.This article is protected by copyright. All rights reserved.PMID: 26663427 PubMed - as supplied by publisher2. Transplantation. 2015 Dec 11. Epub ahead of printSurvival After Transplantation in Patients With Mutations Other Than Val30Met:Extracts From the FAP World Transplant Registry.Suhr OB(1), Larsson M, Ericzon BG, Wilczek HE; FAPWTRs investigators.Author information: (1)1 Department of Public Health and Clinical Medicine, Ume University Hospital,Ume, Sweden. 2 Division of Transplantation Surgery, Karolinska Institutet,CLINTEC, Karolinska University Hospital, Huddinge, Stockholm, Sweden.BACKGROUND: Liver transplantation (LTx) has been performed for hereditarytransthyretin amyloidosis (ATTR) since 1990. Outcomes for a relatively largeseries of LTx ATTR patients with the Val30Met (mutation are available, but fornon-Val30Met patients, only a few reports with a small number of patients exist. Here, we present outcomes for non-Val30Met ATTR patients after LTx, as reportedto the Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR).METHODS: Data regarding outcome were extracted for all non-Val30Met patientsreported to the registry. Survival rates were analyzed by the Kaplan-Meier methodand log-rank test.RESULTS: The total number of patients with a non-Val30Met mutation in theregistry was 264 (174 men and 90 women), representing 57 mutations. The 10-yearsurvival varied markedly for the 9 most common mutations, ranging from 21% forSer50Arg to 85% for Val71Ala. Poor survival was noted for all mutations withleptomeningeal complications except for those with the Tyr114Cys mutation.CONCLUSIONS: Large differences in survival were observed relative to differentmutations and between mutations with similar phenotypes. Excellent survival wasnoted for mutations, such as Leu111Met, Val71Ala, and Leu58His. Patients withmutations other than Val30Met are not a homogeneous group, and the termnon-Val30Met should be used with caution or avoided. Moreover, for severalmutations, data are too limited to allow evaluation of the efficacy of LTx, andcontinuous international collaboration is important for obtaining treatmentguidance.This is an open-access article distributed under the terms of theCreative Commons Attribution-Non Commercial-No Derivatives 3.0 License, where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially.PMID: 26656838 PubMed - as supplied by publisher3. Ann Med. 2015 Dec;47(8):625-38. doi: 10.3109/07853890.2015.1068949. Epub 2015 Nov27.Evolving landscape in the management of transthyretin amyloidosis.Hawkins PN(1), Ando Y(2), Dispenzeri A(3), Gonzalez-Duarte A(4), Adams D(5), SuhrOB(6).Author information: (1)a National Amyloidosis Centre, Royal Free Hospital, University College Lo