Pulmonary Involvement in Patients With Fabry Disease

Impact of the Treatment With Agalsidase Alpha on Lung Function and on Pulmonary Involvement in Patients With Fabry Disease. A Multicenter, Retrospective Observational Study

The objective of this study is to investigate whether Agalsidase alpha, a drug commonly prescribed in patients with Fabry disease, is associated with improvement of the pulmonary involvement. According to the Global Initiative for Obstructive Lung Disease (GOLD), the surrogate markers for obstructive lung diseases are a decrease in both forced expiratory volume in one second (FEV1) and FEV1/FVC ratio, whereas FVC is the forced vital capacity. However, the measurement of these lung function parameters is indicated as yearly follow-up examinations with or without the treatment of Agalsidase alpha in patients with Fabry disease.

Pulmonary function tests und DLCO measurements are performed yearly in relation with yearly follow up examinations in the Department of Internal Medicine from the University Hospital of Zurich. We will retrospectively collect the results of the pulmonary functions test (spirometry).

Inclusion criteria:

• All patients with established diagnosis of Fabry disease

Exclusion criteria:

• Missing informed consent