Osteolysis induced by AV-fistula in idiopathic carpotarsal osteolysis
Ilse Muyshondt1,
Luc Lateur2,
Guy Van Roost3 and
Bart Maes1
1Department of Nephrology, 2Department of Radiology, University Hospital Gasthuisberg, Leuven and 3Department of Nephrology, AK St Jan, Brussels, Belgium
Correspondence and offprint requests to: Bart Maes, Department of Nephrology, University Hospital Gasthuisberg, B-3000 Leuven, Belgium. Email: bart.maes{at}uz.kuleuven.ac.be
Keywords: AV-fistula; idiopathic carpotarsal osteolysis; nephropathy
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Case
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R.L. was the sixth born in a family of 10 children; he was born at term after a normal pregnancy. His three brothers and six sisters were normal. Both parents were healthy and unrelated. The family history was negative with regard to congenital malformations, orthopaedic deformities or kidney disease. At the age of 9 months he developed an episode of painful swelling of both wrists for which a period of immobilization was prescribed. Motor development and staturoponderal development were normal, but at the age of 3 years he developed walking difficulties with recurrent swelling of both ankles. Subsequent roentgenograms showed progressive carpal and tarsal osteolysis. Treatment with immobilization could not prevent a progressive deformity of hands and feet. School results were normal, and despite his functional disability he obtained a University degree [1].
He had the typical facial features of a patient with idiopathic carpotarsal osteolysis with a slight exophtalmia and a relative maxillar hypoplasia. There was an S-shaped thoracal kyphoscoliosis and a pectus excavatum. The hands showed an ulnar deviation; they were short and pudgy and clinically the carpus and the metacarpus were absent (Figure 1). The feet were small, short and pudgy in equinovarus position with malposition of all toes. He had atrophy of the muscles of the forearms and the calves, and the right elbow showed a flexion contracture. He underwent bilateral hip prosthesis (left at the age of 43 years, right at the age of 45 years), for protrusive coxarthrosis, a left knee prosthesis (at the age of 55 years) and a left elbow prosthesis (at the age of 56 years). The synovium of the left elbow and a bony fragment of the left femur did not show specific histologic changes. At the age of 57 years his height was 170 cm and his weight 50.6 kg. He also developed retinitis centralis serosa and small central lens opacities in both eyes.

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Fig. 1. Upper extremities of the patient [(A) clinically and (B) radiologically] showing painless, non-swollen, healed but destroyed joints.
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At the age of 3 months, during a period of transient oedema with fever and otitis media, mild albuminuria was noted for the first time. Intermittent discrete proteinuria was present later on; but the urine sediment was always negative and no further examinations were executed. At the age of 34 years, renal insufficiency (creatinine clearance of 40 ml/min), overt proteinuria (2 g/24 h) and arterial hypertension (200/100 mmHg) were documented at a routine check up. A renal biopsy was proposed, but refused by the patient [1]. Blood pressure control (135145/7585 mmHg on repeated measurements) was obtained using alpha- and beta-receptor blockers (terazosin 5 mg + atenolol 100 mg daily). Nevertheless, a progressive decrease of the renal function was seen, evolving to end-stage renal disease (ESRD). Haemodialysis was started in May 2000 at the age of 55 years, after constructing a left brachial AV-fistula (end-to-side anastomosis v. basilica-a. brachialis). The fistula was superficialized 1 year later because of painful punctures of the fistula. However, the pain in the left elbow, initially only during dialysis, subsequently remained during non-dialysis days and then shifted to an inflammatory type of pain, with progressive functional impairment of the elbow joint. A CT-scan of the elbow showed erosive lesions, more pronounced at the ulnar trochlear notch, in association with effusion of fluid, suggestive of active osteolysis (Figure 2). He had no complaints on the right elbow or other joints; radiography of the right elbow showed no new lesions. There were no signs of renal osteodystrophy (serum calcium 9.5 mg/dl, serum phosphate 3.9mg/dl, parathyroid hormone level 86.5 ng/l), nor osteomyelitis (C-reactive protein <3 mg/l, erythrocyte sedimentation rate 31 mm/h).

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Fig. 2. Computer tomographic examination of the left elbow showing active osteolysis with significant loss of subchondral bone of the capitulum of the humerus and of the ulnar trochlear notch.
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Because ischaemia was suspected to be involved in the activation of osteolysis of the left elbow, banding of the AV-fistula was performed to diminish the blood-steal phenomenon. Despite reduction of the diameter of the arteriotomy from 15 to 4 mm there was progression of the osteolysis and increasing pain and functional disability. The AV-fistula was totally closed 1 month later, with resolution of the pain, however, with permanent functional impairment. An elbow prosthesis was placed another 5 months later, when osteolysis was inactive. Haemodialysis was performed via a single-lumen catheter, until he received a cadaveric kidney transplant on the 7 June, 2002 at the age of 57 years. He is now doing well with a functioning cadaveric kidney graft on maintenance therapy containing methylprednisolone, tacrolimus and mycophenolate mofetil. His blood pressure is well controlled with metoprolol and without native nephrectomy. No new episodes of osteolysis occurred. He has a daughter who is also affected with idiopathic carpotarsal osteolysis with nephropathy (autosomal dominant hereditary form) [2].
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Discussion
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A patient with idiopathic carpotarsal osteolysis type III (sporadic form) and ESRD, complicated by renewed osteolysis at the location of the AV-fistula is described. Idiopathic carpotarsal osteolysis, also named idiopathic multicentric osteolysis, is characterized by a gradual and progressive resorption of the bones of the hands and feet, involving preferentially the carpus and tarsus. Osteolysis may spread and involve the proximal segments. Of the larger joints, the elbow is the one most frequently affected. This process of osteolysis starts in early childhood with pain and swelling around the wrists and ankles, simulating acute arthritis, and is usually maintained until puberty, when it subsides spontaneously, leaving severe deformities and functional disabilities. The first symptoms of pain and swelling of the wrists and ankles are usually noted around the age of 2 or 3 years. The functional disability is often moderate, contrasting with the severe radiological abnormalities. The facial appearance is typical: exophtalmia, maxillar hypoplasia and micrognathia. Flexion contractures and Dupuytren-like contractures, thoracic scoliosis and corneal opacities were also described in other patients [115]. An autosomal dominant (type I) and autosomal recessive (type II) inheritance, and a sporadic form (type III) have been described [15].
Renal involvement may be present in idiopathic carpotarsal osteolysis. Nephropathy is seen more frequently in the sporadic form. It is characterized by fluctuating proteinuria, arterial hypertension and progressive renal functional impairment, with ESRD occurring from 1 to 17 years after the onset of proteinuria [1,3,4,79,1113,1517]. The pathology and pathogenesis of the nephropathy is not well characterized. Some authors have reported a proliferation of the vascular intima in renal vessels, without evidence of systemic hypertension-related cardiovascular disease. Similar vascular changes have been described in coronary vessels, skin and in synovial cartilage, suggesting the possibility that vascular disease may precede osteolysis and nephropathy [3,4,9,10]. It is noteworthy that these biopsies were taken when ESRD was already present and that others could not confirm these findings [5,8,11,15,16]. There is no evidence of immune-complex-mediated glomerulopathy [3,15,16,18]. Hirooka et al. [16] presented a renal biopsy of early-stage renal failure, which showed morphologic features compatible with those of focal segmental glomerulosclerosis, as was earlier described by Counahan et al. [17], and was later on confirmed by other authors [15]. Glomerulosclerotic changes can be secondary and result from loss of functional renal mass, proteinuria and hypertension. Bakker et al. [18] reported discrete abnormalities of the glomerular basal membrane (GBM), with reduplication and lamination of the lamina densa and areas of thinning and thickening throughout the GBM with normal light microscopy and hypothesized that intrinsic GBM abnormalities were responsible for the nephropathy.
In the patient described, a renewed activity of osteolysis, with pain and functional disability of the left elbow was noted after initiating haemodialysis via a left brachial AV-fistula. We hypothesized that ischaemia induced by the left brachial arteriovenous fistula (steal phenomenon), might be involved in triggering osteolysis of the bones of the elbow joint. Several results suggest this possibility. First, the activity of osteolysis tends to cease in adolescence [5,6,12], and no reports of renewed osteolysis at older age were found. Our patient had been without evidence of active osteolysis for >20 years, in particular he never had complaints on the elbow joints. Secondly, the osteolysis is symmetrical in this disorder; unilaterally affected joints have not been reported. As our patient was right handed, one would expect the right side to be more affected by degenerative changes, which was not confirmed by CT-scan. Thirdly, the temporal relationship with the construction and use of the AV-fistula was striking, as well as the inactivation of pain and osteolysis after closing the AV-fistula. Fourthly, there were several reports that proliferative vascular lesions in the synovial cartilage [4,9,10], predisposing to ischaemia, might be involved in the disease activity. The ischaemia-hypothesis was also in accordance with the bilateral occlusion of the radial artery at the level of the distal epiphyseal plate of the radius in a 13-year-old girl with the sporadic form of idiopathic carpotarsal osteolysis [14].
However, no other cases have been reported with dialysis access induced activation of osteolysis. Rose et al. [12] did not report on the vascular access used for haemodialysis in their patient; the patient of Turner et al. [3] was started on peritoneal dialysis and changed to haemodialysis via a subclavian catheter after a Candida peritonitis. Bakker et al. and Ros et al. [13,18] treated their patients with peritoneal dialysis. However, Bennett et al. [9] noted that vascular access might prove difficult in patients with idiopathic carpotarsal osteolysis, probably due to the deformities and the changed anatomy of the arms making the construction and puncturing of an AV-fistula difficult. Some authors reported on functional recovery on dialysis [12] and after transplantation [3]. There was no evidence of worsening of osteolysis induced by corticosteroid therapy [12].
Although proof of our hypothesis was not possible due to the rarity of the syndrome, careful monitoring for renewed osteolysis at the site of the vascular access for haemodialysis is advised when patients with idiopathic carpotarsal osteolysis evolve to end-stage renal disease.
Conflict of interest statement. None declared.
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Received for publication: 23. 7.02
Accepted in revised form: 30. 4.03