A 10-year Follow-up Study of a Japanese Family with Ferroportin Disease A: Mild Iron Overload with Mild Hyperferritinemia Co-occurring with Hyperhepcidinemia May Be Benign

Intern Med. 2018 Oct 1;57(19):2865-2871. doi: 10.2169/internalmedicine.0481-17. Epub 2018 May 18.

Abstract

This is a 10-year follow-up study of a family with ferroportin disease A. The proband, a 59-year-old man showed no noteworthy findings with the exception of an abnormal iron level. The proband's 90-year-old father showed reduced abilities in gait and cognition; however, with the exception of his iron level, his biochemistry results were almost normal. Brain imaging showed age-matched atrophy and iron deposition. In both patients, the serum levels of ferritin and hepcidin25, and liver computed tomography scores declined over a 10-year period. These changes were mainly due to a habitual change to a low-iron diet. The iron disorder in this family was not associated with major organ damage.

Keywords: ferroportin; iron overload; reticuloendothelial system.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Cation Transport Proteins / deficiency*
  • Cation Transport Proteins / genetics
  • Ferritins / blood
  • Follow-Up Studies
  • Hemochromatosis / complications*
  • Hemochromatosis / diagnosis*
  • Hepcidins / blood
  • Humans
  • Iron Overload / etiology*
  • Japan
  • Male
  • Middle Aged

Substances

  • Cation Transport Proteins
  • Hepcidins
  • metal transporting protein 1
  • Ferritins

Supplementary concepts

  • Hemochromatosis, type 4