Arthropathy is one of the leading clinical manifestations of hereditary hem
ochromatosis (HH). Although cirrhosis of the liver is crucial for mortality
in patients with HH, arthropathy has the greatest impact on the quality of
life. Several mutations in the HFE and other genes have recently been iden
tified, and the prevalence of some of these mutations has already been inve
stigated in population studies in greater detail. Even though cofactors oth
er than genetic predisposition may play a role in the establishment of the
disease, the new understanding of the genetic background of this iron stora
ge disorder may help in identifying patients before the onset of clinical s
ymptoms. Early initiation of iron depletion therapy, not effective in estab
lished arthropathy of HH, might prevent the manifestation of arthropathy or
reduce its severity. Curr Opin Rheumatol 2001, 13:80-83 (C) 2001 Lippincot
t Williams & Wilkins, Inc.