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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

ABSTRACT: Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS.A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease.The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2?±?3.2 years, compared with 22.6?±?4.3 years in the three patients with a mild form of the disease without cognitive involvement (n?=?2) or the intermediate form (n?=?1) (p?

SUBMITTER: Lin HY

PROVIDER: S-EPMC4924312 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Lin Hsiang-Yu HY Chuang Chih-Kuang CK Huang Yu-Hsiu YH Tu Ru-Yi RY Lin Fang-Ju FJ Lin Shio Jean SJ Chiu Pao Chin PC Niu Dau-Ming DM Tsai Fuu-Jen FJ Hwu Wuh-Liang WL Chien Yin-Hsiu YH Lin Ju-Li JL Chou Yen-Yin YY Tsai Wen-Hui WH Chang Tung-Ming TM Lin Shuan-Pei SP

Orphanet journal of rare diseases 20160627 1

<h4>Background</h4>Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS.<h4>Methods</h4>A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medica ...[more]

PMID: 27349225

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Project description:Background and objective Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM +309900) is an X-linked recessive, multisystemic lysosomal storage disorder caused by iduronate-2-sulfatase (I2S) deficiency, which catalyzes a step in the catabolism of glycosaminoglycans (GAGs). It leads to accumulation of GAGs in the lysosomes of many organs and tissues, causing progressive cellular dysfunction. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. The study aims to delineate the cause of death and natural history of Taiwanese patients with MPS II. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results Among these 34 mortality patients, 31 were severe form with significant cognitive impairment, two were mild form without cognitive involvement, and one was intermediate form. The mean age at death was 14.2±4.2 years. The mean ages at onset of symptoms and confirmed diagnosis were 2.5±2.1 and 4.8±3.1 years, respectively (n=32). The mean gestational age and birth weight were 39.2±1.8 weeks and 3,522±581 grams, respectively (n=24). The mean age at death of 31 severe form was 13.2±3.2 years, compared with 22.6±4.3 years of three patients with mild or intermediate forms (P<0.001). Among the 27 patients with available records of primary cause of death, respiratory failure was the leading cause (70%), followed by cardiac failure (22%), post-traumatic organ failure (4%), and infection (sepsis) (4%). Age at onset of symptoms was positively correlated with life expectancy (P<0.01). The longevity also increased gradually over time between 1995 and 2012 (P<0.05). Conclusions The life expectancy of Taiwanese MPS II patients has improved in recent decades. With the implementation of National Health Insurance in Taiwan since 1995, it is possible that referral of patients to specialist and improvement in multidisciplinary care underlie this trend. These findings can be used to develop quality of care strategies for these patients.

Project description:Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, X-linked, life-limiting lysosomal storage disease characterized by a deficiency in the activity of the enzyme iduronate-2-sulfatase. Accumulation of glycosaminoglycans in tissues and organs throughout the body causes cellular damage, leading to multisystemic disease manifestations. Patients generally require multidisciplinary care across a wide range of specialties. Objectives: The aims of this study were to assess the healthcare needs of patients with MPS II and to explore the impact of treatment on disease burden and healthcare resource utilization. Methods: A retrospective review of medical charts from 19 US sites was performed. Data were analyzed from 140 male patients diagnosed with MPS II (defined as a documented deficiency in iduronate-2-sulfatase) between 1997 and 2017. The prevalence and age at onset of clinical manifestations and extent and frequency of healthcare resource use were evaluated. Results: Of the patients in this study, 77.1% had received enzyme replacement therapy with intravenous idursulfase and 62.1% had cognitive impairment. The clinical burden among patients was substantial: almost all patients had ear, nose, and throat abnormalities (95.7%); musculoskeletal abnormalities (95.0%); and joint stiffness or abnormalities (90.7%). Of the most prevalent disease manifestations, facial dysmorphism and hepatosplenomegaly were documented the earliest (median age at first documentation of 3.8 years in both cases). Hospitalizations, emergency department visits, and outpatient visits were reported for 51.2%, 58.5%, and 93.5% of patients, respectively, with a frequency of 0.1, 0.2, and 3.0 per patient per year, respectively. Surgery was also common, with 91.1% of patients having undergone at least 1 surgical procedure. The clinical burden and prevalence and frequency of resource use were generally similar in patients who had received enzyme replacement therapy and in those who had not. Conclusions: These results add to our understanding of the natural history of MPS II and indicate that the disease burden and healthcare needs of patients with this progressive disease are extensive. Increased understanding of disease burden and resource use may enable the development of models of healthcare resource utilization in patients with MPS II and contribute to improvements in disease management and patient care.

Dataset Information

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Publications

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

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