ABSTRACT
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more than 80 different transthyretin (TTR) mutations. The clinical features of FAP are broad and variable, but knowledge of the pattern and natural history of disease associated with particular mutations nevertheless offers the best guidance for management of individual patients, including the role and timing of treatment by orthotopic liver transplantation. This chapter aims to report the phenotype of FAP in patients from Dutch, British, and American (Finnish) families. DNA analysis showed the presence of the TTR Gly47Glu mutation in all affected individuals. Clinical evaluation of the patients was focused on organ function of heart, kidneys, gastrointestinal tract, eyes, and nerves. Characteristic clinical features of FAP associated with TTR Gly47Glu included amyloid cardiomyopathy and autonomic failure but, unusually, severe renal failure was present in more than half of the cases.
