title: Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy.
abstract: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively. The first patient, a 52-year-old lady carrying Thr49Ala mutation, had a disease duration of twelve years and had lost weight up to 35 kg because of daily diarrhea. The second patient, a 63-year-old man with Glu89Gln mutation and a disease duration of fifteen years, was in the New York Heart Association (NYHA) Functional Classification class III and his weight was 39 kg. In both cases, a peripherally inserted central catheter was placed for parenteral nutrition. It allowed to improve their nutritional status and clinical conditions, with body weight gains of 11 and 8 kg in a one year follow-up, respectively. Moreover, reduction of autonomic symptoms including postural hypotension, nausea and diarrhoea was recorded with ameliorated quality of life. Our experience suggests that parenteral nutrition may be useful in reducing complications and disabilities in TTR-FAP patients, even when all dietary adjustments have been ineffective. Reasonably, the improvement in nutritional status may prolong survival in TTR-FAP patients.
authors.affiliation: Nemo Sud Clinical Centre, AOU Policlinico, Messina, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Russo
authors.affiliation: Nemo Sud Clinical Centre, AOU Policlinico, Messina, Italy.
authors.forename: Gian Luca
authors.initials: GL
authors.lastname: Vita
authors.affiliation: Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Biomedical Department of Internal and Specialistic Medicine, University of Palermo, Palermo, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Stancanelli
authors.affiliation: Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
authors.affiliation: Nemo Sud Clinical Centre, AOU Policlinico, Messina, Italy; Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address: giuseppe.vita@unime.it.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.affiliation: Nemo Sud Clinical Centre, AOU Policlinico, Messina, Italy; Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000178:diet therapy* / Q000235:genetics / Q000503:physiopathology; D001342:Autonomic Nervous System Diseases / Q000178:diet therapy* / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009752:Nutritional Status; D010288:Parenteral Nutrition; D011788:Quality of Life; D016896:Treatment Outcome
keywords: Familial amyloid polyneuropathy; Nutritional status; Parenteral nutrition; TTR-FAP; modified body mass index (mBMI)