Musculoskeletal Complications of Hereditary Hemochromatosis: A Case-Control Study

Abstract

This case-control study strongly suggests a significant association among HH, OA, and OP. Joint involvement can be severe, especially in patients with substantially elevated ferritin levels.

Characteristics of the arthropathy described in hereditary hemochromatosis

“…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 (15,16).…”

“…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 (15,16).…”

Chondrocalcinose

“…Cette hyperabsorption a pour conséquence une augmentation du coefficient de saturation de la transferrine, puis une augmentation de la concentration sérique de la ferritine puis une accumulation progressive de fer dans les différents tissus de l'organisme. L'atteinte articulaire est la complication qui altère le plus la qualité de vie des patients hémochromatosiques [25]. Elle est présente selon les séries dans 50 à 70 % des cas, et amène au diagnostic dans environ 20 % des cas [26].…”

Hémochromatose génétique : le rhumatologue en première ligne

“…Cette constatation a été confirmée dans une étude cas-témoin menée par autoquestionnaire auprès de patients hémochromatosiques membres d'une association de malades (n = 306) et des témoins (n = 304). Après ajustement pour l'âge, le sexe et l'index de masse corporelle, les patients déclaraient plus de prothèse de hanche (11,1 % vs 2,3 %) (odds ratio = 5,2 [2,[2][3][4][5][6][7][8][9][10][11]9], p = 0,0001) et de genou (3,3 % vs 0,7 %) (odds ratio = 5,3 [1,6], p = 0,03) que dans la population témoin [17].…”