The natural history of MPS I: global perspectives from the MPS I Registry

Beck, Michael; Arn, Pamela; Giugliani, Roberto; Muenzer, Joseph; Okuyama, Torayuki; Taylor, John; Fallet, Shari

doi:10.1038/gim.2014.25

Cited by 136 publications

(198 citation statements)

References 18 publications

(27 reference statements)

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“…In the presence of near normal height and facial appearance, the musculoskeletal findings can be mistakenly attributed to rheumatologic disease20 and the mitral valve appearance on cardiac echo mistaken for rheumatic heart disease 21. It is not uncommon for the correct diagnosis to be delayed by years or even decades 2 19 22. Increased awareness of the diagnosis is essential since effective treatment is available.…”

Section: Mps Phenotypesmentioning

confidence: 99%

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Braunlin

Wang

2016

Heart

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The growing availability of innovative treatments for rare genetic diseases with a cardiac component-such as the mucopolysaccharidoses (MPSs)-has changed these syndromes from 'back of the textbook' curiosities of childhood to chronic, but rare, adult cardiac conditions that require both centres of expertise and knowledgeable subspecialists. The MPSs are inherited progressive lysosomal storage diseases, occurring in about 1:25 000 births and resulting from absence of functional hydrolases responsible for the degradation of glycosaminoglycans, naturally occurring complex sugars ubiquitous throughout the body. In the heart, accumulation of glycosaminoglycans occurs within the cardiac valves, the epicardial coronary arteries, the myocytes and cardiac interstitium and the walls of the great vessels. As a consequence, cardiac valve regurgitation and stenosis, diffuse coronary artery stenosis, myocardial dysfunction and aortic root dilation often occur. Haematopoietic cell transplantation and enzyme replacement therapy have changed the previously lethal natural history of the MPSs to one of survival well into adulthood. Despite this improved lifespan, the left-sided cardiac valves continue to show progressive functional involvement and cardiac valve replacement is not uncommon, especially in adults. The risk of any intervention is increased in these patients because of the systemic effects of the disease on the respiratory system and cervical cord. Our current understanding of other cardiac issues in adults with the MPSs, especially with the coronary circulation and myocardium, is meagre and more needs to be known to effectively care for this emerging population of adults. Incorporation of the MPSs, as well as other now-treatable rare diseases, into the educational curriculum of current and future adult subspecialists is an important next step.

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Section: Mps Phenotypesmentioning

confidence: 99%

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Braunlin

Wang

2016

Heart

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“…Studies have shown that the diagnosis and treatment of mucopolysaccharidosis type I (MPS I) is substantially delayed and that the time between the onset of symptoms and diagnosis has not improved 1. This diagnostic delay is particularly prominent in patients with attenuated forms of MPS I, with an estimated gap between symptom onset and diagnosis ranging from two to nine years 1, 2, 3.…”

Section: Introductionmentioning

confidence: 99%

“…This diagnostic delay is particularly prominent in patients with attenuated forms of MPS I, with an estimated gap between symptom onset and diagnosis ranging from two to nine years 1, 2, 3. Given the progressive and multi‐systemic nature of this inherited genetic disease, diagnosis should be established as early as possible in the disease course for patients to receive optimal benefit from treatment.…”

Section: Introductionmentioning

confidence: 99%

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Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki‐Szymańska

Meırleır²,

Rocco

et al. 2018

Acta Paediatrica

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AimThe aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I).MethodsAn international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real‐world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested.ResultsAn algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler–Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) – 16 Hurler, nine Hurler–Scheie and seven Scheie patients – would have been referred earlier if the algorithm had been used.ConclusionThe expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.

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“…MPS III and MPS IV have two or more subtypes biochemically. MPS I is divided into three subtypes according to the severity of the disease: Hurler syndrome (severe form), Hurler-Scheie syndrome, and Scheie syndrome (mild form) (2). MPS II is also divided into two subtypes as neurological and non-neurological (3).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa¹,

Köse²,

Ateşoğlu³

et al. 2017

jpr

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The Journal of Pediatric Research, published by Galenos Yayınevi. Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients. Materials and Methods: This is a retrospective study which included 27 MPS patients who were diagnosed and treated in our center. ABS TRACT ÖZ Results:The mean age of the group was 112.3±52.5 months (36-196 months); the mean onset age of symptoms was 40.8±30.6 months (4-112 months), and the mean time from symptom onset to diagnosis was 16.3±21.4 months (0-80 months). MPS subgroups were Type III in 13 (48%) patients, Type II in seven (26%), Type VI in four (15%), Type I in two (7%) patients and Type IV in one patient. Nine (33.3%) patients received enzyme replacement therapy (ERT). The mean duration of ERT was 31.3±21.5 months (9-67 months). Conclusion: MPS Type III was found to be the most common subgroup in our center. We can speculate that the mean time from symptom onset to diagnosis was found too long for MPS in which early diagnosis improves the prognosis. Increasing awareness of the disease in physicians encountering these patients in different clinics will be an important factor in the early diagnosis of the disease.

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The natural history of MPS I: global perspectives from the MPS I Registry

Cited by 136 publications

References 18 publications

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

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