1Musculoskeletal conditions associated with Wilson’s disease
Section snippets
Epidemiology and physiopathology
WD is a rare disease. The worldwide prevalence is estimated to be on the order of 30 per 1 million, with a gene frequency of 0.56% and a carrier frequency of 1 in 90. In France, the incidence is estimated at 1/30 000–1/100 000 new case per year and its prevalence at 1/25 000[1] (ORPHANET 905; MIM 277900: http://www.ncbi.nlm.nih.gov/omim/277900).
WD is an autosomal recessive disorder, due to a mutation in the gene ATP7B mapped to chromosome 13 (13q14.3). This gene codes for a copper-transporting
Clinical and radiological features
Between 1950 and 2000, at least 15 radiological case-series have reported radiological abnormalities in patients with WD. They were open and old studies with small number of patients (between 7 and 42 patients).[9], [10], [11], [12], [13], [14], [15], [16], [17], [18], [19], *[20], [21], [22], [23], [24], [25], [26], [27], [28], [29] Table 3 displays reported skeletal radiological studies over 50 years in this rare condition. The main characteristic is bone demineralisation, reported in 24–88%
Clinical data
Articular manifestations have been described in seven open studies including small samples.[11], [12], [13], [15], *[20], [21], [22] Additional case-reports of recurrent and unexplained joint complaints (monoarthritis, polyarthritis and arthralgia) in adolescent patients, sometimes before diagnosis of WD, have been published.[34], [35], [36], [37], [38]
In the seven uncontrolled studies, joint signs were not always described, and time to onset for joint symptoms in the course of WD was not
Spinal manifestations
Low back pain can be present, possibly related to neurological involvement (dystonia, abnormal movements…), as observed in Parkinson’s disease for example.
Spinal radiological abnormalities, especially osteochondritis (17/153 patients, 11%), lumbar osteoarthritis and «squaring» of vertebrae have been occasionally reported in radiological case-series.[11], [13], [15], [18], *[20], [22], [23], [28] Dorsolumbar scoliosis has also been described in 7 out of 32 studied patients;[22] similarly this
Rheumatic manifestations related to the treatment of WD
Adverse events to D-penicillamine and, less frequently Trientine®, can result in articular manifestations. Drug-induced lupus is the most frequent presentation, and more rarely myasthenia, Goodpasture’s syndrome and dermatomyositis can occur.
D-penicillamine, like hydralazine, another drug inducing lupus, can bind irreversibly to aldehydes, which activate antigen presenting cells and T cells, leading to the induction of auto-immune reaction.[41] Systemic lupus induced by D-penicillamine are well
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Cited by (23)
COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer
2021, Journal of Trace Elements in Medicine and BiologyUnusual osseous presentation of Wilson disease in a child
2017, Archives de PediatrieSynthesis, spectroscopic characterization, X-ray study and in vitro cytotoxicity of 5-hydroxycoumarin derivatives and their copper complexes
2017, Journal of Molecular StructureCitation Excerpt :Copper is an essential trace element in animals and as a critical component of enzymes and proteins plays an important role in many biological processes [11,12]. While trace amounts of copper are needed to sustain life, even low levels of this element in the organism can result in a wide range of illnesses [13–15]. Therapies based on metal supplementation or the removal of copper excess by means of specific copper chelators are currently effective in treating such disorders [13–16].
The precision-recall curve overcame the optimism of the receiver operating characteristic curve in rare diseases
2015, Journal of Clinical EpidemiologyAssociation between Wilson's disease and articular chondrocalcinosis
2014, Revue du Rhumatisme (Edition Francaise)Do children with Wilson's disease have distinct craniofacial morphology? A cephalometric study
2013, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :In two prospective studies, in adults and children, bone mineral density (BMD) by dual X-ray absorptiometry (DEXA) in patients with WD showed a high prevalence of osteoporosis (43% and 67.7%, respectively) [7,13]. On the other hand, another adult study revealed osteoporosis prevalence as 13% [14]. It has been suggested that copper plays an essential role in human physiology and is necessary for normal growth and development.
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