Transthyretin Val122Ile amyloidosis associated with isolated gastrointestinal disease and bowel rupture in a Caucasian woman

Pathology. 2019 Jun;51(4):436-439. doi: 10.1016/j.pathol.2018.12.423. Epub 2019 Apr 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged, 80 and over
  • Amino Acid Substitution
  • Amyloid Neuropathies, Familial / complications*
  • Amyloid Neuropathies, Familial / diagnostic imaging
  • Amyloid Neuropathies, Familial / genetics
  • Amyloid Neuropathies, Familial / pathology
  • Diarrhea / complications*
  • Diarrhea / diagnostic imaging
  • Diarrhea / genetics
  • Diarrhea / pathology
  • Female
  • Gastrointestinal Diseases / complications*
  • Gastrointestinal Diseases / diagnostic imaging
  • Gastrointestinal Diseases / genetics
  • Gastrointestinal Diseases / pathology
  • Humans
  • Prealbumin / genetics*
  • White People

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related