RT Journal Article
SR Electronic
T1 The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload.
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 153
OP 158
VO 35
IS 1
A1 Luca Valenti
A1 Anna Ludovica Fracanzani
A1 Valeria Rossi
A1 Clementina Rampini
A1 Edoardo Pulixi
A1 Massimo Varenna
A1 Silvia Fargion
A1 Luigi Sinigaglia
YR 2008
UL http://www.jrheum.org/content/35/1/153.abstract
AB OBJECTIVE: To analyze the clinical characteristics and genetic background associated with the presence of hand arthropathy, as determined by radiological findings, in Italian patients with hereditary hemochromatosis (HHC). METHODS: In 88 consecutive unselected patients with phenotypically expressed HHC, joint involvement was systematically evaluated in plain radiographs of hands, wrists, lumbar spine, pelvis, and knees. Risk factors considered were age, sex, body mass index, alcohol abuse, organ involvement at other sites, and indices of iron overload, including ferritin, transferrin saturation, and iron removed to reach depletion. HFE genotype was also considered. The independent role of risk factors was tested by logistic regression analysis. RESULTS: Thirty-two subjects (36%) showed signs of metacarpophalangeal (MCP) arthropathy. Intercarpal, radiocarpal, and chondrocalcinosis were less frequent and occurred in association with MCP arthropathy. At multivariate analysis MCP arthropathy was independently associated with older age [odds ratio (OR) 1.20, 95% confidence interval (CI) 1.1-1.33/yr; p = 0.0001], higher ferritin levels at diagnosis (OR 4.17, 95% CI 1.60-13.9 for values > 1000 ng/ml; p = 0.008), the presence of the C282Y +/+ and C282Y/H63D HFE genotypes (OR 2.69, 95% CI 1.09-7.87; p = 0.04), and higher percentage transferrin saturation (OR 1.05, 95% CI 1-1.1; p = 0.05). The severity of arthropathy was independently associated with older age (p = 0.03) and higher ferritin values (p = 0.05). CONCLUSION: MCP arthropathy together with a typical pattern of joint involvement is observed in one-third of unselected patients with HHC, and is influenced by the duration and degree of the iron overload.