Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families

Amyloid. 2004 Mar;11(1):44-9. doi: 10.1080/13506120410001682578.

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 timming of treatment by orthotopic liver transplantation. FAP in association with TTR Gly47Glu has been described previously in an Italian kindred, and we report here its phenotype in 7 additional patients from Dutch, British, and American (Finnish) families. Characteristic clinical features included amyloid cardiomyopathy and autonomic failure but, unusually, moderate to severe renal failure was present in more than half of the cases. Only four patients were deemed to be sufficiently fit to undergo orthotopic liver transplantation, and clinical deterioration was generally rapid. These observations support early intervention with orthotopic liver transplantation in patients with FAP associated with TTR Gly47Glu.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution / genetics*
  • Amyloid Neuropathies, Familial / diagnostic imaging
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / pathology
  • Amyloid Neuropathies, Familial / therapy*
  • Family
  • Female
  • Glutamic Acid / genetics*
  • Glycine / genetics*
  • Humans
  • Liver Transplantation*
  • Male
  • Middle Aged
  • Netherlands
  • Pedigree
  • Prealbumin / genetics*
  • Radiography
  • United Kingdom
  • United States
  • White People

Substances

  • Prealbumin
  • Glutamic Acid
  • Glycine