Musculoskeletal disease burden of hereditary hemochromatosis

Abstract

Objective. To determine the prevalence, clinical picture, and disease burden of arthritis in patients with hereditary hemochromatosis.Methods. In this cross-sectional observational study of 199 patients with hemochromatosis and iron overload, demographic and disease-specific variables, genotype, and organ involvement were recorded. The prevalence, intensity, and localization of joint pain were assessed, and a complete rheumatologic investigation was performed. Radiographs of the hands, knees, and ankles were scored for joint space narrowing, erosions, osteophytes, and chondrocalcinosis. In addition, the number and type of joint replacement surgeries were recorded.Results. Joint pain was reported by 72.4% of the patients. Their mean ؎ SD age at the time of the initial joint symptoms was 45.8 ؎ 13.2 years. If joint pain was present, it preceded the diagnosis of hemochromatosis by a mean ؎ SD of 9.0 ؎ 10.7 years. Bony enlargement was observed in 65.8% of the patients, whereas synovitis was less common (13.6%). Joint space narrowing and osteophytes as well as chondrocalcinosis of the wrist and knee joints were frequent radiographic features of hemochromatosis. Joint replacement surgery was common, with 32 patients (16.1%) undergoing total joint replacement surgery due to severe OA. The mean ؎ SD age of these patients was 58.3 ؎ 10.4 years at time of joint replacement surgery. Female sex, metacarpophalangeal joint involvement, and the presence of chondrocalcinosis were associated with a higher risk of early joint failure (i.e., the need for joint replacement surgery).Conclusion. Arthritis is a frequent, early, and severe symptom of hemochromatosis. Disease is not confined to involvement of the metacarpophalangeal joints and often leads to severe damage requiring the replacement of joints.

T2 black lesions on routine knee MRI: differential considerations

“…It typically involves the hands, wrists, hips and knees [37]. Clinical findings include gradually progressive arthralgia (which worsens with exercise), joint stiffness, deformities and loss of function [38,39]. In some cases, it is accompanied by chondrocalcinosis, due to deposition of calcium pyrophosphate dihydrate crystals [40].…”

“…Common fluid sensitive techniques used in routine knee MRI include inversion recovery (STIR), fat-suppressed proton density (fsPDW) and fat-suppressed intermediate weighted (echo times [35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50] sequences. Some institutes also use T2W sequence with or without fat suppression.…”

Hémochromatose génétique : le rhumatologue en première ligne

“…Les symptômes peuvent débu-ter avant la trentaine chez l'homme (voire plus précocement dans les formes juvéniles non liées à HFE), mais généralement après la ménopause chez la femme. Dans une série récente de 199 patients, l'âge moyen des premiers symptômes articulaires était de 45,8 ± 13,2 ans, avec un retard diagnostique étiologique de 9 ± 10,7 ans [13].…”

“…Dans la série de Sahinbegovic et al, seuls 13,6 % des patients rapportaient une amé-lioration de leurs symptômes articulaires après désaturation [13]. Une courte série de 18 patients a montré que les patients saignés avaient paradoxalement une augmentation des marqueurs de dégradation du cartilage (CTX II) [22].…”

Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies

“…Arthropathy is highly prevalent in patients with hereditary haemochromatosis (2,4), is significantly associated with a high ferritin level at presentation (2,5), and has the clinical and radiographic characteristics of osteoarthritis (OA) (6,7). Although OA is a common condition in the general population, early onset in the absence of trauma or a family history and involvement of unusual sites such as the metacarpophalangeal (MCP) joints may be sufficient clues to act as a diagnostic trigger for haemochromatosis (7).…”