Transthyretin familial amyloid polyneuropathy (TTR‐FAP) in Mallorca: a comparison between late‐ and early‐onset disease

Transthyretin familial amyloid polyneuropathy (TTR‐FAP) in Mallorca: a comparison between late‐ and early‐onset disease

Journal of the Peripheral Nervous System, December 2016

27403623

Juan Buades‐Reinés, Manuel Raya‐Cruz, Cristina Gallego‐Lezaún, Tomás Ripoll‐Vera, Mercedes Usón‐Martín, Hernán Andreu‐Serra, Eugenia Cisneros‐Barroso

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 versus 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.