Abstract
The treatment of familial amyloid polyneuropathies (FAP) is complex and requires a neurological and cardiological multidisciplinary coverage. It includes specific treatments to control the progression of the systemic amyloidogenesis, the symptomatic treatment of the peripheral and autonomic neuropathy (digestive, urinary, sexual, postural hypotension) and the treatment of organs severely involved by amyloidosis (heart, eyes, kidneys). First line specific treatment of met30 TTR-FAP is liver transplantation (LT) which allows to suppress the main source of mutant TTR, to stop the progression of the neuropathy in 70 % of cases at long-term (with an experience of 18 years) and to double the median survival. In case of severe renal or cardiac insufficiency, a double transplant kidney-liver or heart-liver can be discussed. The tafamidis (in temporary authorization of use in France) is a stabilizing medicine of the tetrameric TTR which showed in very early stages of met30 TTR-FAP short-term capacities to stop the progress of the peripheral neuropathy in 60 % of the cases versus 38 % with placebo. It should be proposed in case of contraindication of TH (age>70 years [20 % of the cases]), of very early stages (very low NIS-LL score), or ...Continue Reading
References
Jan 1, 1984·Annals of the New York Academy of Sciences·M J SaraivaD S Goodman
Jun 1, 1984·British Heart Journal·P ErikssonB O Olofsson
Apr 1, 1997·The British Journal of Ophthalmology·E AndoA Negi
Jul 15, 1998·European Journal of Nuclear Medicine·A RydhP N Hawkins
Jun 27, 2000·Brain : a Journal of Neurology·D AdamsG Said
Aug 5, 2000·Biochemical and Biophysical Research Communications·M YazakiS Ikeda
Sep 25, 2001·Journal of Neurology·D Adams
Dec 12, 2001·Circulation·N DelahayeP Merlet
Mar 22, 2002·Transplantation·Bert-Ove OlofssonOle B Suhr
Jun 7, 2002·The New England Journal of Medicine·Helen J LachmannPhilip N Hawkins
Feb 28, 2004·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Takeshi HattoriShu-ichi Ikeda
Jan 20, 2006·Muscle & Nerve·Merrill D BensonKyle W Sloop
Feb 2, 2006·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·I Cardoso, M J Saraiva
Apr 24, 2007·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·Emanuele PilatoGiorgio Arpesella
Jun 8, 2007·Muscle & Nerve·Merrill D Benson, John C Kincaid
Sep 18, 2007·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·S YamamotoB-G Ericzon
Dec 13, 2007·Journal of Neurology·C DenierV Planté-Bordeneuve
Apr 26, 2008·Acta Ophthalmologica·Ola SandgrenOle B Suhr
May 20, 2008·Neurobiology of Aging·Sofia Duque SantosMaria João Saraiva
Jun 24, 2008·Biochimica Et Biophysica Acta·Bárbara MacedoMaria João Saraiva
Jul 23, 2009·Transplantation·Eugenia RaichlinBrooks S Edwards
Jul 28, 2010·Neurology·Juris J LiepnieksMerrill D Benson
Aug 3, 2010·Journal of Translational Medicine·Isabel CardosoMaria João Saraiva
Feb 22, 2011·Transplantation Proceedings·A RochaA Cabrita
Aug 16, 2011·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·H E WilczekUNKNOWN FAPWTR
Jul 10, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·P LozeronUNKNOWN French Network for FAP (CORNAMYL)
Citations
Oct 23, 2013·Journal français d'ophtalmologie·A RousseauE Barreau
Feb 28, 2014·Orphanet Journal of Rare Diseases·Juan Buades ReinésManuel Raya Cruz
Apr 22, 2014·Medicina clínica·Alberto A Marcacuzco QuintoEnrique Moreno Gonzalez
Jun 7, 2015·Postgraduate Medical Journal·Simon DubreyJulian Gillmore