Transthyretin familial amyloid polyneuropathy (TTR‐FAP) in Mallorca: a comparison between late‐ and early‐onset disease. Issue 4 (7th December 2016)

• Record Type: Journal Article
• Authors: Buades‐Reinés, Juan; Raya‐Cruz, Manuel; Gallego‐Lezaún, Cristina; Ripoll‐Vera, Tomás; Usón‐Martín, Mercedes; Andreu‐Serra, Hernán; Cisneros‐Barroso, Eugenia
• Is Part Of: Journal of the peripheral nervous system. Volume 21:Issue 4(2016)
• Page Start: 352
• Page End: 356
• Publication Date: 2016-12-07
• Subjects: age of onset -- early onset -- familial amyloidosis with polyneuropathy -- late‐onset -- neurologic involvement; Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns.12180
• Languages: English
• ISSNs: 1085-9489

Abstract

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.