Screening for Pompe Disease in a Portuguese High Risk Population

• Autor(a) principal: Almeida, V
• Data de Publicação: 2017
• Outros Autores: Conceição, I, Fineza, I, Coelho, T, Silveira, F, Santos, M, Valverde, A, Geraldo, A, Maré, R, Aguiar, TC, Mendonça, C, Martins, J, Medeiros, L, Barroso, C, Vieira, JP, Moreno, T, Negrão, L, Silva Dias, M, Lacerda, L, Evangelista, T
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/2870
• topic: HSJ NEU; HDE NEU; HSAC NEU; Ambulatory Care; Dried Blood Spot Testing; Glycogen Storage Disease Type II/diagnosis; Glycogen Storage Disease Type II/physiopathology; Muscle Weakness/diagnosis; Muscle Weakness/physiopathology; Portugal; Prospective Studies; Risk

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.