Sarcouncil Journal of Medical Sciences

Abstract: Background: Hereditary hemochromatosis (HH) is a systemic disease caused by iron overload, most frequently as iron overload arthropathy (IOA), a debilitating disease, which is marked by joint pains, stiffness, and structural damage. Although therapeutic phlebotomy is effective in the management of systemic toxicity, stable arthropathy frequently occurs without hematologic control that leaves a major gap in the management of patients. Purpose: The objective of this research was to describe haematological and rheumatic manifestations of iron overload arthropathy in a group of 112 patients with hereditary hemochromatosis of genetically confirmed pathology, determine independent predictors of acute joint disease and liver cirrhosis, and determine the functional outcomes of a multidisciplinary rehabilitation regimen. The patients were sampled among various hospitals of Iraq, and a retrospective-prospective observational study was carried out on 112 adult patients with HFE-related hemochromatosis and arthropathy as presented in the clinic. The variables comprised demographic (data), Iron overload indicators (serum ferritin, transferrin saturation ratio, cumulative blood volume), and detailed rheumatic evaluation (data), such as joint distribution, visual analogue pain scale (VAS), Health Assessment Questionnaire Disability Index (HAQ-DI), and radiographic classification. Descriptive statistics, Pearson correlation matrices, and multivariate logistic regression were employed in order to establish predictive indices of acute hip osteoarthritis and advanced liver cirrhosis. A part of the patients included in the study was subjected to a 12-week standardised multidisciplinary rehabilitation intervention (physical therapy, occupational therapy, and pain management) as allowed, and the functional measures were compared before and after intervention with the use of paired t-tests. A part of the patients included in the study was subjected to a 12-week standardised multidisciplinary rehabilitation intervention (physical therapy, occupational therapy, and pain management) as allowed, and the functional measures were compared before and after intervention with the use of paired t-tests. Findings: The patient group (75% male; mean age at diagnosis 52.4 ± 11.2 years) exhibited a usual distribution of joint involvement, with 69.6% of patients having the second and third metacarpophalangeal joints being affected and 25% having hip arthropathy. The median serum ferritin concentration was 1850±1240 μg/L. There were significant positive correlations between serum ferritin levels and the severity of the injury visible on radiographs (r=0.56, p <0.001), and between the indexes of iron accumulation and impairment of functions (HAQ-DI: r=0.41, p <0.001). The logistic regression analysis indicated that serum ferritin level above 1000 -1 (odds ratio 3.45, 95% confidence interval 1.52 7.82) and the homozygous C282Y genotype (odds ratio 3.00, 95% confidence interval 1.15 7.85) are independent variables that predict severe hip osteoarthritis. It is remarkable that the presence of osteoarthritis was a good predictor of severe liver cirrhosis (odds ratio 4.26, 95% confidence interval 1.859.80). The patients reported statistically significant changes in pain scores (the visual analogue pain scale decreased by 6.2 to 3.8, p < 0.001), functional disability (the Health Disability Assessment Index decreased by 1.4 to 0.9, p < 0.001) and mobility (the six-minute walking distance increased by 70 metres, p < 0.001) but there was no change in radiographic damage after receiving rehabilitation intervention. The mobility of the patients (six-minute walking distance improved by 70 metres, p < 0.001) did improve, but they did not see any improvement in radiographic damage. Conclusion: Iron overload of hemochromatosis is a prevalent and disabling disease that is closely linked with iron overload, and it is regarded as a primary sign of progressive liver cirrhosis. Although normalisation of blood counts through phlebotomy is imperative in the prevention of visceral complications, it is not adequate in the reversal of stable arthropathy. The outcomes of these studies highlight the necessity to incorporate specific rheumatic rehabilitation into the regular clinical procedures. An interdisciplinary strategy to treat iron deficiency and functional reclamation can greatly enhance quality of life and physical capacity and demand a paradigm shift to a model of comprehensive management of hemochromatosis, putting musculoskeletal health in the forefront and metabolic regulation in the background.