Integrated management of an adult patient with Mucopolysaccharidosis type IVA: a case report with a six-year follow-up
  • Anita Vergatti
    Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy
  • Veronica Abate
    Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy
  • Matteo Della Monica
    Former Medical Doctor of Medical and Laboratory Genetic Unit, Cardarelli Hospital, Naples, Italy
  • Gianpaolo De Filippo
    Assistance Publique-Hôpitaux de Paris, Hôpital Robert-Debré, Service d’Endocrinologie-Diabétologie, Paris, France
  • Domenico Rendina
    Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy
  • Antonio Barbato
    Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy

Keywords

Mucopolysaccharidosis IVA, zoledronic acid, cholecalciferol, enzyme replacement therapy, diet

Abstract

Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency. MPS-IVA patients show severe extra-skeletal and skeletal manifestations, featured by bone pain and deformities, frailty fractures and early onset osteoporosis. The enzyme replacement therapy (ERT) with elosulfase alpha stabilizes the MPS-IVA extra-skeletal manifestations but does not significantly improve MPS-IVA skeletal manifestations. We administered an integrated therapy to an MPS-IVA 41-year-old male patient, composed of zoledronic acid, cholecalciferol and a normocalcemic (calcium intake >1 g/day), hyposodic (sodium intake <5 g/day), and normocaloric diet (bone-diet), other than ERT. During the six-year follow-up, the patient did not develop any adverse events, obtaining an improvement of bone mineral density and quality of life. Given our results, we propose this integrated treatment (i.e. ERT, zoledronic acid, cholecalciferol, and bone diet) in the management of MPS-IVA adult patients.

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    Published: 2023-12-13
    Issue: 2024: Vol 11 No 1 (view)

    How to cite:
    1.
    Vergatti A, Abate V, Della Monica M, De Filippo G, Rendina D, Barbato A. Integrated management of an adult patient with Mucopolysaccharidosis type IVA: a case report with a six-year follow-up. EJCRIM 2023;11 doi:10.12890/2023_004113.