Background/Purpose: Haemochromatosis arthropathy (HA) has been little researched to date. Arthropathy frequently is amongst thefirst clinical manifestations of haemochromatosis, but might be overlooked or misdiagnosed as being of different origin, which impacts significantly on the patient’s joint function and health due to delayed diagnose and therapy initiation. This SLR aimed to summarise the imaging and clinical features of haemochromatosis arthropathy to inform the development of EULAR classification criteria for HA.

Methods: We performed a systematic literature review by searching Medline (PubMed, Ovid), the Cochrane Library andEmbase, as well as conference abstract databases. Only original articles describing clinical and/or imaging features of HA (without language restriction or year of publication) were eligible for inclusion. After article and abstract screening, we assessed articles in detail for eligibility based on study quality and adequate reporting of outcomes. Random intercept logistic regression was utilised (using R, version 4.2.1) to calculate individual probabilities of outcomes assessed.

Results: Of 595 articles initially screened, 52 were analysed in detail and 36 studies were found appropriate for final analysis (Figure 1). The most common ineligibility reasons during detailed article review were poor study quality and insufficient reporting of outcomes. The most prevalent clinical characteristics were focussed on the MCP2 and MCP3 joints, with limited range of motion (pooled proportion: 62%, Figure 2 A+B), bony enlargement (48%) and pain (41%). With regards to imaging characteristics, MCP joints 2/3 showed the highest frequency of subchondral cysts (MCP2 and MCP3 52%, respectively), joint space narrowing (MCP2: 62% and MCP3 62%, respectively, Figure 2 C+D), and osteophytes (MCP2: 49%; MCP3: 52%). Chondrocalcinosis prevailed in the knee (29%), and subchondral sclerosis in the hip in 61%. Considerable heterogeneity (I²) across most meta-regressions was identified (p< 0.01 for all analyses except for bony enlargement in MCP2/3 and subchondral sclerosis of the hip). Table 1 summarizes the detailed results and estimates of the meta-regression analyses.

Conclusion: Our SLR identified the most commonly reported clinical characteristics and imaging patterns of HA joint involvement. As expected for this rare disease, only a limited number of articles were identified and most studies described small numbers of patients, with significant variability of outcomes, also leading to high heterogeneity in our analyses. This SLR summarizes the current evidence on clinical and imaging features important in HA, demonstrating the unmet need of developing classification criteria in patients with HA.

Figure 1: Prisma flow diagram

Figure 2 A, B: Forest plot illustrating pooled effect estimates for limited rang of joint movement in (A) metacarpophalangeal (MCP) 2 and (B) MCP 3 joints.

Figure 2 C, D: Forest plot illustrating pooled effect estimates for radiographic joint space narrowing in (A) metacarpophalangeal (MCP) 2 and (B) MCP 3 joints.

Table 1: Detailed results of clinical and imaging findings showing the pooled proportions derived from random intercept logistic regression analyses on reported outcomes.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/clinical-and-imaging-features-of-haemochromatosis-arthropathy-a-systematic-literature-review-and-meta-analysis/