Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

Abstract

Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient's parents or guardians with subsequent review of patient's medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of signs/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS VI: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. Several health professionals were involved in patient's care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and the establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests.

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

“…This is particularly true for patients with the attenuated phenotype, as the disease onset can be insidious. Such delays increase the risk of irreversible organ damage and may decrease the benefit of ERT (Muenzer et al 2009;Vieira et al 2008;Wraith et al 2008a). It is thus necessary that physicians who usually visit these patients know about these diseases and the signs and symptoms for suspecting the existence of MPS.…”

Level of independence, functional capacity and respiratory muscle strength of patients with mucopolysaccharidosis type VI in the Northeast of Brazil

“…2 In Brazil and Portugal, the incidence of MPS VI is twice as much than those found in Australia and in the Netherlands. 3,4 The MPS VI is one of the most commonly diagnosed types in Brazil, 1,5,6 with an estimated incidence of 0.083 per 100,000 inhabitants. Furthermore, it is more common in the Northeast of the country.…”

Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal

“…21 Since the pediatrician is the health professional most frequently sought by patients/relatives with MPS when clinical manifestations occur, 21 . In another patient only the stomatognathic system could be evaluated.…”