Is lower urinary tract dysfunction an early marker of Portuguese type familial amyloidotic polyneuropathy in women? Preliminary results.

Type 1 Portuguese Familial Amyloid Polyneuropathy was first observed in 1939 and described in 1951 by Corino Andrade. FAP is a rare autosomal dominant disease caused by a mutant gene in chromosome 18, characterized by a variant transthyretin in which valine is substituted for methionine at position 30 (ATTR V30M), affecting mainly young adults. ATTR V30M positivity does not imply disease, but the disease is only present with ATTR V30M in serum.