Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy

Abstract

Fabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. A 38-year-old female with Fabry disease presented with dyspnea requiring constant supplemental oxygen. Following bi-weekly treatment with agalsidase beta, she demonstrated marked improvement in her pulmonary symptoms, eventually no longer needing supplemental oxygen and returning to an active lifestyle. Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease.

Pulmonary involvement in Fabry disease: Overview and perspectives

“…Additionally, the typical radiological feature of small airway disease have been shown in the case report by Kim et al demonstrating bilaterally severe mosaic attenuation pattern, which is due to a combination of ground-glass opacities and air trapping [13]. A pattern of mosaic attenuation on thoracic high resolution computed tomography (HRCT), especially when seen on expiratory images, is consistent with air-trapping characteristic of bronchiolitis obliterans or constrictive bronchiolitis [40].…”

“…The literature search revealed thirteen publications addressing pulmonary involvement in FD containing a total of 299 patients (151 male) [6,[8][9][10][11][12][13][14][15][16][17][18][19]. These publications involved seven prospective cohort studies [6,11,[14][15][16]18,19], one retrospective outcome survey [17], one case series [10], and four case reports or letters to the editor [8,9,12,13].…”

“…These publications involved seven prospective cohort studies [6,11,[14][15][16]18,19], one retrospective outcome survey [17], one case series [10], and four case reports or letters to the editor [8,9,12,13].…”

“…Although there are many publications about effects of ERT on heart, kidney and nervous system involvement, there are only a few reports concerning the effect of ERT when the lung is affected. ERT has been reported to stabilize or even alleviate the burden of pulmonary involvement in FD, mainly bronchial obstruction and/or sleep apnoea [8,13]. Of note, lung involvement has been described in other lysosomal storage disorders in adulthood, such as Gaucher's disease, acid sphingomyelinase deficiency (Niemann Pick type B), maltase acid deficiency (Pompe disease), and in mucopolysaccharidoses.…”

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

“…Furthermore, 2.7% of the population meet criteria for clinically significant restless leg syndrome (Winkelman et al 2013). Enzyme replacement therapy in Fabry disease has been shown to stabilise or alleviate bronchial obstruction and sleep apnoea (Franzen et al 2013;Wang et al 2008;Kim et al 2007) and reduce neuropathic pain (Dominguez et al 2007).…”