DOI: 10.12890/2023_004113

Integrated management of an adult patient with Mucopolysaccharidosis type IVA: a case report with a six-year follow-up

Authors

  • Anita Vergatti Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy 0009-0009-6574-9120
  • Veronica Abate Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy 0000-0003-0085-0067
  • Matteo Della Monica Former Medical Doctor of Medical and Laboratory Genetic Unit, Cardarelli Hospital, Naples, Italy 0000-0001-8338-7949
  • Gianpaolo De Filippo Assistance Publique-Hôpitaux de Paris, Hôpital Robert-Debré, Service d’Endocrinologie-Diabétologie, Paris, France 0000-0003-1313-5599
  • 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 0000-0002-4660-821X

domenico.rendina@unina.it

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

Vol. 11 No. 1 (2024)

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 [Internet]. 2023 Dec. 13 [cited 2026 Nov. 4];11(1). Available from: https://ejcrim.com/index.php/ejcrim/article/view/4113