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This study sought to explore the following issues 1) health-related quality of life (HRQoL) in Fabry patients relative to the general population 2) the quality of life (QoL) level in heterozygous females as compared to hemizygous males and the general population. A prospective, cross-sectional study was performed in patients diagnosed with Fabry disease in Poland (n=33). HRQoL was assessed with two generic questionnaires: the Medical Outcomes Study Short Form-36 (SF-36) and EuroQol questionnaire (EQ-5D), which includes the EQ-5D descriptive system and the EQ-visual analogue scale (EQ VAS), as well as a disease-specific author’s questionnaire. When measured with EQ-VAS, the subjective perception of health status was significantly lower in Fabry patients than that of the general population. SF-36 norm-based scores showed that patients are disadvantaged mainly in social functioning, bodily pain, and mental health. Objective assessments of HRQoL according to the EQ-5D Index tend to be lower for males than for females. Only male patients experienced extreme problems identified by the EQ-5D descriptive system. HRQoL of Fabry patients, measured by EQ-5D and SF-36, is lower as compared with that of the general population. Fabry disease effects QoL in its physical, mental and social dimensions.
The aim of this study was to describe the musculoskeletal manifestations of mucopolysaccharidosis VI and to assess the effectiveness of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B on the bone and joint involvement in a patient with a severe phenotype of the disease. Before the initiation of ERT, the patient presented with significant range of motion (ROM) limitations at multiple joints. Flexion contractures were noticeable in all joints. After 48 weeks of ERT, improvement in active and passive shoulder flexion, as well as passive elbow and wrist flexion, was noticed. ROM improvements were reflected in patient’s enhanced self-care.
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, OMIM 253200) belongs to a group of lysosomal storage disorders (LSD) and is caused by deficient activity of arylsulfatase B (ARSB, EC, an enzyme involved in the metabolism of glycosaminoglycans (GAGs). The accumulation of GAG substrate (mainly dermatan sulfate, DS) in cells and tissues results in tissue and organ dysfunction. The disease is inherited in an autosomal recessive manner. MPS VI is associated with a variety of signs and symptoms and a wide variability of progression rates. During the course of the disease, patients develop skeletal changes (dysostosis multiplex), short stature, coarsened facial features, heart valve dysfunction, eye, corneal clouding, restricted joint range of motion and moderate hepatosplenomegaly. About 600 patients have been diagnosed worldwide, including 7 patients from Poland. Because the diagnosis of MPS VI requires diagnostic tests and clinical experience, the disease tends to be diagnosed late, or misdiagnosed. Enzymatic diagnostic for MPS VI is available in Poland since 80s. Paediatricians, ophthalmologists, rheumatologists and cardiologists play the most important role in the early diagnosis of MPS VI. Authors present a case of 16.5-year-old boy. Screening revealed the presence of dermatan sulfate and enzyme assay confirmed significantly decreased activity of ARSB. In June of 2009 the boy started enzyme replacement therapy with rhASB (recombinant form of arylsulfatase B, galsulfase) and he appears to benefit from this therapy.
Mukopolisacharydoza typu VI (MPS VI, choroba Maroteaux-Lamy’ego, zespół Maroteaux-Lamy’ego, OMIM 253200) należy do grupy lizosomalnych chorób spichrzeniowych (LChS) i jest spowodowana deficytem aktywności arylosulfatazy B (4-sulfataza N-acetylogalaktozaminy, ARSB, EC, enzymu uczestniczącego w metabolizmie glikozoaminoglikanów (GAGs). Odkładanie się glikozoaminoglikanów (głównie siarczanu dermatanu, DS) w komórkach i tkankach całego organizmu prowadzi do uszkodzenia ich funkcji. Choroba dziedziczona jest w sposób autosomalny recesywny. MPS VI charakteryzuje się różnorodnymi objawami oraz zróżnicowanym stopniem postępu. Objawy charakteryzujące większość pacjentów to głównie zmiany szkieletowe (dysostosis multiplex), niskorosłość, pogrubiałe rysy twarzy, dysfunkcja zastawek serca, zmętnienie rogówki, ograniczenie ruchomości w stawach oraz niewielkie powiększenie wątroby. Dotychczas choroba została rozpoznana u około 600 pacjentów na świecie, w tym u 7 w Polsce. Jej rozpoznanie wymaga badań specjalistycznych i doświadczenia klinicznego, dlatego też diagnozowana bywa późno lub, prawdopodobnie, diagnoza bywa mylna. Największe szanse rozpoznania MPS VI na wczesnym etapie mają pediatrzy, okuliści, reumatolodzy oraz kardiolodzy. W Polsce enzymatyczna diagnostyka MPS VI jest dostępna od lat 80. Autorzy przedstawiają przypadek 16,5-letniego chłopca. Elektroforeza mukopolisacharydów w moczu wykazała obecność siarczanu dermatanu, natomiast oznaczanie aktywności ARSB w leukocytach ujawniło jej głęboki niedobór, co potwierdziło rozpoznanie MPS VI. W czerwcu 2009 roku chłopiec rozpoczął leczenie enzymatyczne rhASB (rekombinowana forma arylosulfatazy B, galsulfaza). Wstępne wyniki leczenia są zachęcające.
Content available remote Natural history of Polish patients with mucopolysaccharidosis type VI
The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapidly advancing and relatively attenuated. Two patients developed symptoms early in life presenting with short stature, significant skeletal malformations and other clinical abnormalities. In two other patients, height was only slightly decreased and MPS features developed later in the course of the disease. All patients had similar characteristics at the time of birth but showed significant differences in body proportions when compared with the healthy population. Differences between healthy and affected children increased with age and were reflected in phenotypes. Analysis of ROM showed impairments at multiple joints, although to a various degree in different patients. Restriction in upper extremity ROM was observed since the second year of life, while restriction in lower extremity ROM developed later and influenced stereotype of walking. These limitations intensified with the patients’ age, which made self-care more difficult or impossible. The molecular analysis revealed that the milder phenotype may be associated with the R152W mutation, which suggests a specific genotype-phenotype correlation.
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