Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Hsiang-Yu Lin,Pao Chin Chiu,Dau-Ming Niu,Yin-Hsiu Chien,Fuu-Jen Tsai,Shuan-Pei Lin,Shio Jean Lin,Ming-Ren Chen,Ju-Li Lin,Wuh-Liang Hwu,Chih-Kuang Chuang

doi:10.1186/s13023-018-0827-1

Abstract

BackgroundMucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients.MethodsMedical history, demographics, signs and symptoms, and surgical history were analysed in all patients from Taiwanese centres in the Hunter Outcome Survey (HOS; NCT 03292887), a global, multicentre registry that collects real-world data on patients with MPS II.ResultsAs of January 2016, 61 male Taiwanese patients were enrolled; 49% (24/49) had received at least one infusion of idursulfase. Median (10th, 90th percentiles) ages at signs and symptom onset and at diagnosis were 2.5 (0.2, 5.5) years (n = 55) and 3.5 (1.2, 11.9) years (n = 56), respectively. Hernia, facial features consistent with MPS II and claw hands were the earliest presenting signs and symptoms (median ages of 3.2 [0.4, 12.0] years, 4.3 [1.1, 12.0] years and 4.7 [2.5, 12.2] years [n = 45, 53 and 50], respectively). More than 75% of patients had undergone a surgical procedure, most commonly hernia repair (57% of patients). Median age at first surgery for hernia repair was 4.2 (0.5, 9.8) years (n = 35). Almost one-third (31.1%) of patients had at least one surgical procedure before diagnosis, and of the 20 procedures before diagnosis, 16 were hernia repair.ConclusionsThis information from patients in HOS highlights the importance of both medical and surgical history in diagnosing MPS II in Taiwanese patients.

Highlights

Mucopolysaccharidosis type mucopolysaccharidosis type II (II) (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked, life-limiting disease caused by deficient activity of the lysosomal enzyme iduronate-2-sulfatase (I2S; EC 3.1.6.13) [1]
Patient population In total, 61 Taiwanese patients with MPS II were included in the analysis, all of whom were male

Summary

Introduction

Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients. Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked, life-limiting disease caused by deficient activity of the lysosomal enzyme iduronate-2-sulfatase (I2S; EC 3.1.6.13) [1]. Lin et al Orphanet Journal of Rare Diseases (2018) 13:89 carpal tunnel release) are characteristic of MPS II [5], and general awareness of typical surgical patterns may aid early diagnosis and timely initiation of disease management [5, 7, 8]. Individuals with cognitive impairment tend to have severe somatic manifestations and early onset of disease and typically survive to the second decade of life; in those without cognitive impairment, somatic involvement can range from severe with early onset to much less severe with later onset, and less severely affected patients may survive to their fifth or sixth decade [1, 12, 13]

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