Table 2.

ATTReuNET-recommended diagnosis of nonendemic (usually late-onset) TTR-FAP: Key points of note

Typical clinical features of later disease (average 4 years post onset; the usual delay for diagnosis)
Progressive idiopathic polyneuropathy
Early walking difficulties, using aid support
Initial complaint: [20]
Sensory-motor neuropathic symptoms (80%)
Autonomic symptoms (10%)
Examination: All modality sensory deficit
Presence of family history (less than 50%)
Autonomic neuropathy without diabetes (uncommon at the onset)
Neurogenic orthostatic hypotension
Digestive symptoms (e.g., diarrhoea, constipation)
Urogenital symptoms (e.g., erectile dysfunction)
Unintentional major weight loss
Associated cardiac symptomatology (syncope, dyspnoea)

Diagnosis
DNA testing for TTR mutation (sequencing) first line in the future
Tissue biopsy confirms amyloid deposition

ATTReuNET, European Network for TTR-FAP; TTR, transthyretin; TTR-FAP, transthyretin familial amyloid polyneuropathy.