title: Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.
abstract: The age of onset (AO) of hereditary ATTR amyloidosis (hATTR) is known to vary between populations, with differing characteristics reported according to AO in endemic/non-endemic foci. This was a retrospective study of patients with early AO (<50 years) and late AO (≥50 years) hATTR at our center in Mallorca. Data were collected on patient demographics, clinical disease manifestation, and physical symptoms. A total of 95 patients were analyzed, with mean follow-up of 9 years from diagnosis. The early AO group included 53 patients (33 male) and the late AO group included 42 patients (21 male). Neurologic involvement was the most common initial symptom, although it was significantly more frequent in the late AO vs. early AO group (p = 0.015). Autonomic involvement was observed in 26% of patients in the early AO group, but was rarely observed in the late AO group (5%). During follow up, cardiologic symptoms, renal involvement, and ophthalmologic symptoms were significantly more common in the late AO group (p < 0.05). This retrospective study demonstrates the variation in disease presentation and progression according to AO of hATTR at our Mallorcan center.
authors.affiliation: Department of Internal Medicine, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Buades-Reinés
authors.affiliation: Department of Internal Medicine, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Raya-Cruz
authors.affiliation: Department of Internal Medicine, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gallego-Lezaún
authors.affiliation: Department of Cardiology, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Tomás
authors.initials: T
authors.lastname: Ripoll-Vera
authors.affiliation: Department of Neurology, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Usón-Martín
authors.affiliation: Department of Digestive Medicine, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Hernán
authors.initials: H
authors.lastname: Andreu-Serra
authors.affiliation: Clinical Research Coordinator A-TTR Group, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Cisneros-Barroso
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*; D012189:Retrospective Studies; D013030:Spain / Q000453:epidemiology; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: D011228:Prealbumin; D008715:Methionine; D014633:Valine
keywords: age of onset; early onset; familial amyloidosis with polyneuropathy; late-onset; neurologic involvement