familial amyloid polyneuropathy (fap) type iv (finnish) is a rare clinical entity with challenging neuropathy and cosmetic deficits. amyloidosis can affect peripheral sensory, motor, or autonomic nerves. nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. involvement of cranial nerves and atrophy in facial muscles is a real concern i...

Familial amyloid polyneuropathy (FAP) is a group of disorders characterized by the extracellular deposition of amyloid substance in various tissues. The peripheral nervous system and the heart are the main target organs, but the eye may also be involved. We report a case of vitreous amyloidosis as the first manifestation of FAP in a 66-year-old Portuguese man without a family history.

The approach to the neuropathological assessment of nerve biopsies is the main focus of this review. Nerve biopsies are invasive diagnostic procedures resulting in a permanent neurological deficit, and are therefore carried out only following an in-depth clinical assessment including laboratory, imaging, electrophysiological, and where appropriate also genetic studies. This review will outline ...

Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic area of familial amyloid polyneuropathy. Genetic analysis showed a base change in ...

Background Transthyretin Familial Amyloid Polyneuropathy (TTRFAP) is a rare, progressive, debilitating and life-threatening neurodegenerative disease. The purpose of this study was to assess the health-related quality of life (HRQoL) impairment of TTR-FAP disease versus Portuguese general population and to identify individual patient characteristics such as disease stage – that affects their HR...

Background Tafamidis (Vyndaqel) was approved by the EMA in 2011 and is emerging as the standard of care for transthyretin familial amyloid polyneuropathy (TTR-FAP) in clinical settings. Efficacy was demonstrated in the clinical trials, yet little is known about its real-world effectiveness. A global disease registry, the Transthyretin Amyloidosis Outcomes Survey (THAOS), collects data on both t...

A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features. Histological proof of amyloidosis was obtained in both cases. This is the second report of familial amyloid neurop...

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 physic...