Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease.

UNLABELLED: Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.

LEARNING POINTS: Type 1 Gaucher disease (GD) is the most common type of GD diagnosed in adulthood, and is characterized by great clinical heterogeneity.Pulmonary involvement is rare, mostly characterized by infiltrative lung disease and pulmonary hypertension, and typically unresponsive to enzyme replacement therapy (ERT).Type 1 GD should be included in the differential diagnosis of infiltrative lung disease of unclear origin in patients with cytopenia and/or splenomegaly.Infiltrative lung disease due to type 1 GD may respond to ERT even in elderly patients.