Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

Sandra Lisboa
Sandra Lisboa
. Setor de Prova de Função Pulmonar
Juan Clinton Llerena
Juan Clinton Llerena
Centro de Genética Médica José Carlos Cabral de Almeida

J Bras Pneumol 2017 Jan-Feb;43(1):54-59

. Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.

Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy.

Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values.

Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, -4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) .

Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.

Download full-text PDF

Source Listing
August 2017
3 Reads

Publication Analysis

Top Keywords

symptom onset
time symptom
onset diagnosis
sitting supine
years range
pompe disease
supine positions
late-onset pompe
age symptom
definitive diagnosis
walk distance
median age
fvc% sitting
years median
six-minute walk
case series

Similar Publications

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.

Mol Genet Metab 2013 Nov 9;110(3):290-6. Epub 2013 Jul 9.

Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, AOU "Policlinico G. Martino", Via Consolare Valeria 1, 98125 Messina, Italy. Electronic address:

Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were studied: 6 with a limb-girdle muscle weakness, 1 with myalgias, 2 with exertional dyspnoea and 1 with isolated hyperckemia. Read More

View Article
November 2013

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

Mol Genet Metab 2016 Apr 4;117(4):413-8. Epub 2016 Feb 4.

Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Line, M6 8HD, Salford, UK.

Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. Read More

View Article
April 2016

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

Neurology 2017 Dec 8;89(23):2365-2373. Epub 2017 Nov 8.

From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands.

Objective: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.

Methods: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Read More

View Article
December 2017

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

Orphanet J Rare Dis 2013 Oct 12;8:160. Epub 2013 Oct 12.

Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such as the 6-minute walking test (6MWT) and forced vital capacity (FVC) to assess muscular and respiratory function during disease progression or treatment. However, the relevance of these markers to late-onset Pompe disease and the minimal clinically important difference (MCID) for these endpoints in late-onset Pompe disease have not yet been established. Read More

View Article
October 2013