Musculoskeletal disease burden of hereditary hemochromatosis.
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).


CONCLUSIONS
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.
Sahinbegovic
Enijad
E
University of Erlangen-Nuremberg, Erlangen, Germany.
Dallos
Tomáš
T
Aigner
Elmar
E
Axmann
Roland
R
Manger
Bernhard
B
Englbrecht
Matthias
M
Schöniger-Hekele
Maximilian
M
Karonitsch
Thomas
T
Stamm
Tanja
T
Farkas
Martin
M
Karger
Thomas
T
Stölzel
Ulrich
U
Keysser
Gernot
G
Datz
Christian
C
Schett
Georg
G
Zwerina
Jochen
J
D000328:Adult; D000368:Aged; D000843:Ankle Joint / Q000000981:diagnostic imaging; D018771:Arthralgia / Q000453:epidemiology / Q000209:etiology / Q000601:surgery; D001168:Arthritis / Q000453:epidemiology* / Q000209:etiology* / Q000601:surgery; D019643:Arthroplasty, Replacement; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D005260:Female; D050823:Hand Joints / Q000000981:diagnostic imaging; D006432:Hemochromatosis / Q000150:complications*; D006801:Humans; D007719:Knee Joint / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D009140:Musculoskeletal Diseases / Q000453:epidemiology* / Q000209:etiology* / Q000601:surgery; D015995:Prevalence; D011859:Radiography