Search results for "TTR-FAP"

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Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy

2016

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…

Malemedicine.medical_specialtyPediatricsMalabsorptionNausea030204 cardiovascular system & hematologyPediatrics03 medical and health sciences0302 clinical medicineQuality of lifeNutritional statusMedicineHumansWasting SyndromeTTR-FAPGenetics (clinical)Amyloid Neuropathies FamilialFamilial amyloid polyneuropathy; Modified body mass index (mBMI); Nutritional status; Parenteral nutrition; TTR-FAP; Neurology (clinical); Pediatrics Perinatology and Child Health; Genetics (clinical); Neurologybiologybusiness.industryAmyloidosisMiddle AgedPerinatology and Child Healthmedicine.diseaseParenteral nutritionSurgeryTransthyretinParenteral nutritionTreatment OutcomeAutonomic Nervous System DiseasesNeurologyFamilial amyloid polyneuropathyPediatrics Perinatology and Child Healthbiology.proteinQuality of LifeFemaleNeurology (clinical)medicine.symptombusinessBody mass index030217 neurology & neurosurgeryModified body mass index (mBMI)
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