The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

Berrak Bilginer Gurbuz; Ebru Aypar; Turgay Coskun; Dursun Alehan; Ali Dursun; Aysegül Tokatli; Hatice Serap Sivri

doi:10.1515/jpem-2019-0293

Article

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

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Published/Copyright: August 30, 2019

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 32 Issue 10

Abstract

Background

This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after enzyme replacement therapy (ERT).

Methods

A retrospective clinical cohort study was conducted on patients who were diagnosed with MPS between 1995 and 2018 in Hacettepe University, Division of Pediatric Metabolism. A total of 96 patients were diagnosed with MPS during the study period. Of these patients, 81 (84.3%) received ERT. Echocardiographic findings of the patients together with the 6-min walking test (6MWT) results before and after ERT were compared.

Results

Thirty-one participants (38.2%) were female, while 50 (61.8%) were male. The mean age of the participants was 11.97 ± 6.33 years (range: 1.8–30). Five patients (6.2%) had MPS type I, 14 (17.3%) had type II, 28 (34.6%) had type IVa, 33 (40.7%) had type VI and one (1.2%) had type VII. Before ERT, 69.4% of patients had mitral insufficiency (MI; mild: 40.5%, moderate: 16.5%, severe: 12.7%), 35.4% had aortic insufficiency (AI; mild: 22.8%, moderate: 12.7%) and 45.1% had tricuspid insufficiency (TI; mild: 39.2%, moderate: 2.5%). The median duration of the ERT was 3.5 years. The ERT significantly improved left ventricular hypertrophy (LVH), but all other study variables returned non-significant before and after treatment. ERT may improve LVH in MPS. Bearing in mind that MPS is a progressive disease, ERT seems to prevent significant deterioration of this ailment but is not able to reverse the already settled pathologies except for LVH. ERT is not able to reverse the damage, but provides stabilization; so it is best to initiate treatment before cardiac damage.

Keywords: cardiac findings; enzyme replacement therapy; left ventricular hypertrophy; mucopolysaccharidosis

Corresponding author: Berrak Bilginer Gurbuz, MD, Division of Pediatric Metabolism, Hacettepe University, Medical Faculty, Ankara 06230, Turkey, Phone: +90 505 799 38 84

Acknowledgements

The authors would like to thank the patients who participated in this study. Furthermore, authors would like to thank the pediatric metabolism and pediatric cardiology teams.

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2019-06-27

Accepted: 2019-08-09

Published Online: 2019-08-30

Published in Print: 2019-10-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2019-0293

Keywords for this article

cardiac findings; enzyme replacement therapy; left ventricular hypertrophy; mucopolysaccharidosis