Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature

Osteoporos Int. 2006 Jan;17(1):150-5. doi: 10.1007/s00198-005-1920-6. Epub 2005 Jul 5.


Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically characterized by transaminasemia and progressive erectile dysfunction, due to hypogonadotropic hypogonadism. The clinical case appears interesting, as the patient also had secondary osteoporosis accompanied by increased bone resorption, which prevalently affected trabecular bone. Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Bone Density
  • Bone and Bones / metabolism
  • GPI-Linked Proteins
  • Hemochromatosis / complications*
  • Hemochromatosis / genetics
  • Hemochromatosis / physiopathology
  • Hemochromatosis Protein
  • Humans
  • Hypogonadism / complications
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Osteoporosis / etiology*
  • Osteoporosis / physiopathology


  • GPI-Linked Proteins
  • HJV protein, human
  • Hemochromatosis Protein
  • Membrane Proteins