Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

• Published in: Journal of Inborn Errors of Metabolism and Screening
• Main Authors: Dafne D G Horovitz, Márcia G Ribeiro, Angelina X Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani
• Format: Article
• Language: English
• Published: SciELO 2023-09-01
• Subjects: Mucopolysaccharidosis II; Lysosomal Storage Diseases; Survival; Signs and Symptom
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100304&tlng=en

Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outcome Survey (HOS), including clinical characteristics among MPS II patients from Brazil. HOS is a global, multi-center, long-term, observational registry of patients with MPS II (NCT03292887). Variables related to organ system involvement, signs and symptoms, surgical procedures and survival among Brazilian patients were extracted from HOS database. Data from 153 Brazilian patients with MPS II were analyzed. Musculoskeletal (96.6%), abdomen/gastrointestinal (95.2%), neurological (88.7%), pulmonary (86.2%), and ear (81.3%) were the most frequently observed organ/systems involved. Regarding signs and symptoms, the most prevalent symptom was coarse facial features consistent with the disease (94.6%), followed by joint stiffness and limited function (89.3%), hernia (84.2%) and hepatomegaly (82.2%). Median survival time was 22.0 years, and the major cause of death was respiratory failure (31.8%). These data may be helpful to understand disease characteristics and to help improve the quality of MPS II patient care in Brazil.