Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review.

Abstract

Severe haemophilia with recurrent joint bleeding maycause secondary ankle osteoarthritis [1]. Commonradiographic findings of haemophilic arthropathyinclude subchondral cysts, osteoporosis, enlargedepiphyses, irregular subchondral surface, narrowing ofthe joint space and gross joint deformities [2]. Haemo-philic pseudotumour occurs in approximately 2% ofpatients with severe haemophilia [3].In the current literature, numerous treatmentoptions have been described for various stages ofhaemophilic ankle arthropathy [4,5]. Ankle arthrode-sis has been considered the standard treatment optionin patients with haemophilic end-stage ankle arthropa-thy [6]. In the last two decades, total ankle replace-ment has become a feasible treatment option [7].However, in patients with asymmetric ankle osteoar-thritis and a concomitant deformity, where a substan-tial part of the tibiotalar joint remains preserved,procedures that sacrifice the native joint may not bean ideal treatment option. In patients with posttrau-matic ankle osteoarthritis, promising short- and mid-term results have been reported in those whounderwent supramalleolar realignment surgery [8].However, there is a paucity of literature to addressthe use of supramalleolar realignment surgery inpatients with bleeding disorders. Herein, we describethe successful orthopaedic management of a patientwith severe haemophilia A and Noonan syndrometreated by debridement of cysts, filling with allograftand allomatrix, and bilateral hindfoot osteotomies. Inaddition to describing our experience, we also providea review of the current literature on realignment sur-gery for ankle haemophilic arthropathy.A 29-year-old man with severe haemophilia A(FVIII:C < 1.0) and Noonan syndrome presented toour clinic. His Noonan syndrome [9] was noted to beof autosomal dominant genetic origin, also occurringin three out of six of his siblings. The patient showedcharacteristic signs of Noonan syndrome, includingshort body height (158 cm) with associated dispropor-tionality, a ventricular septum defect with stenosis ofthe pulmonal valve, and unilateral cryptorchism.Details regarding association between Noonan syn-drome and bleeding disorders are described in the cur-rent literature [10].The patient’s haemophilia A was diagnosed whenhe was 2 months old, receiving factor substitutionsince then. He had a history of recurrent intraarticularbleeding in both ankles (in the last 12 months fourand three episodes in the right and left ankle respec-tively). The patient presented in our orthopaedic out-patient clinic with bilateral ankle and hindfoot painwith the right side being more symptomatic. Clinicallyhe had peritalar instability with supramalleolar varusmalalignment of the ankle in combination with infra-malleolar valgus malalignment of the heel (Figs 1aand 2a). His ability to walk was severely limited bypain and malalignment to less than 100 m. Hereported pain as 10/10 on the visual analogue scale.The total range of motion of the right and left anklejoints was 20° and 15° respectively. The AmericanOrthopaedic Foot & Ankle Society (AOFAS) hindfootscore was 65 out of a maximum of 100 points. Radio-graphs demonstrated gross bilateral cysts of the distaltibia with the medial distal tibial angle on the rightand left side being 65.5° and 77.0° respectively. Com-puted tomography revealed extensive cystic lesions,especially on the right side (Figs 1b and 2b). On theright side, a large cyst left a cortical defect of approxi-mately 3 9 4 cm on the medial aspect of the distaltibia, including the whole medial malleolus; only theperiosteum covered this cyst. A thin rim ofsubchondral bone persisted on the medial malleolusand the tibial plafond. Scintigraphy showed metabolic