Characteristics of the arthropathy described in hereditary hemochromatosis

✍ Scribed by G. J. Carroll; W. H. Breidahl; J. K. Olynyk

• Publisher: Wiley (John Wiley & Sons)
• Year: 2011
• Tongue: English
• Weight: 176 KB
• Volume: 64
• Category: Article
• ISSN: 2151-464X
• DOI: 10.1002/acr.20501

✦ Synopsis

Characteristics of the arthropathy

Frequency of arthropathy. The exact proportion of patients who manifest an arthropathy is unknown. Arthropathy in HH has been reported to range from 24 -81% (Table ). Most of these frequency estimates are derived from retrospective case series, where more severe cases of HH tend to be concentrated. The investigations performed by Bulaj et al, however, are particularly salient (21). They evaluated clinically unselected C282Y homozygous relatives of HH probands and determined by radiologic assessment the frequency of MCP joint arthropathy in those with demonstrable iron overload. MCP joint arthropathy, compatible with that attributable to HH, was detected in 17 (15%) of 113 male C282Y homozygous relatives with iron overload and in at least 6 (8.7%) of 69 female C282Y homozygous relatives with iron overload. These observations are very similar to those obtained by Carroll et al in a study of HH and non-HH participants who were recruited by newspaper advertising without disclosure of an arthritis research focus, where 3 (13%) of 23 men with definite or probable HH had finger MCP joint arthropathy, as did 3 (16%) of 19 women (17). However, when bilateral arthropathy in other putative target joints such as the radiocarpal, elbow, hip, knee, or ankle joints was also applied as a criterion for the diagnosis of a compatible arthropathy, the frequency of arthropathy was found to be 25% in participants with definite or probable HH, whereas in possible or unlikely HH the frequency was just 3%. The association observed between arthropathy, homozygosity for C282Y, and mobilizable iron stores determined by historic phlebotomy requirements suggests that iron load is a major determinant of arthropathy in HH and more important than occupational factors (16). Likewise, 2 other studies have also reported that arthropathy in HH is strongly associated with iron load .