One patient with transthyretin amyloidosis and 1 patient with gelsolin amyloidosis with no specific mutation identified were diagnosed based on genetic confirmation in their first-degree relative.
FAP is most commonly associated with variant plasma transthyretin (TTR), although it has also been described in association with mutant apolipoprotein A-1 and gelsolin.
Familial amyloid polyneuropathy (FAP) is most commonly associated with variant plasma transthyretin, although it has also been described in association with mutant apolipoprotein A-1 and gelsolin.