家族性淀粉样多发性神经病要点.doc

familial amyloid polyneuropathy 1. J Peripher Nerv Syst. 2015 Dec 13. doi: 10.1111/jns.12153. [Epub ahead of print] Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy. Concei??o I(1), González-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 Physiology Unit, Physiology Institute, Faculty of Medicine-IMM, Lisbon, Portugal. (2)Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México. (3)Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. (4)Klinik für Transplantationsmedizin, Universit?tsklinikum Münster, Münster, 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 the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. METHODS: Based on published literature and expert opinion, symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. Results and conclusions TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testi