Bilateral Ankle Prosthesis in a Severe Von Willebrand Disease Patient under Substitutive Wilfactin Treatment

Abstract number: P0266

Polack¹ B, Asencio² JG, Gaudin³ P, Pouzol¹ P, Pernod¹ G, Barro¹ C, Bridey⁴ F, Tellier⁴ Z, Hilbert⁵ L, Mazurier⁵ C

¹¹Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Grenoble, France ¹¹Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Grenoble, France ²²Clinique des Franciscaines, Nîmes, France ³³Service de Rhumatologie, Centre Hospitalier Universitaire, Grenoble, France ⁴⁴LFB, les Ulis, France ⁵⁵LFB, Lille, France

In severe hemorrhagic disease the conventional treatment of ankle arthropathy is arthrodesis. We report here a patient, born from non-related parents, affected by a severe von Willebrand disease: VWF : RCo < 1%, VWF : Ag < 1%, FVIII : Ag = 2.5%, platelet VWF : Ag ~1%. Electrophoresis of plasma VWF showed only two bands. He is homozygous for T1280A transversion in VWF gene exon 11 leading to I427N substitution in the propeptide D2 domain. I427N VWF expressed in Cos-7 cells showed a striking defect in secretion and multimerisation, though less pronounced than in patient's plasma. He presented since adolescence repeated ankles hemarthrosis. In 2001, he was 29 years old and had a right ankle blocked in neutral position, and a left one limited in flexion and extension to 15°. Because of the recurrences of hemarthroses, radiological lesions, pain, and a repercussion on the knees, we decided prosthetic replacement surgery. The ankles were replaced in 2002 and 2003 under substitutive treatment by a highly-purified (solvent detergent treated, dry heated qnd 35 nm filtered)von Willebrand factor almost devoid of FVIII; the patient was included in the Wilfactin clinical trial. Mean doses were 40 VWF : Rco IU/kg bi-daily for surgery, and 36 VWF : RCo IU/kg/d during rehabilitation; 55 IU/kg of FVIII were co-administrated with the 1^st infusion. Today, his medical evaluation shows: (1) no hemarthrosis recurrence, (2) painless ankles and no gonalgia, (3) a normal mobility of his left ankle and a recovery of 30° in flexion and extension in his right one, and (4) a quality of life considered as excellent by the patient. Total ankle replacement is the treatment of choice in advanced arthropathy. It allows to restore an efficient articular function and protects from an impact on the upper articulations. Such a surgery is feasible under replacement therapy. An early surgery is essential for ad integrum restitution of articular function.