Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease

Secondary interstitial lung disease (ILD) in childhood and adulthood associated with a metabolic disease is a classification category used by Orphanet to group a heterogeneous set of pulmonary conditions in which interstitial lung involvement occurs as a secondary manifestation of an underlying inborn error of metabolism. These metabolic diseases include lysosomal storage disorders (such as Gaucher disease, Niemann-Pick disease, and Fabry disease), glycogen storage diseases, and other inherited metabolic conditions. The lung interstitium — the tissue and space surrounding the air sacs — becomes damaged or infiltrated due to the accumulation of abnormal metabolic substrates, leading to progressive respiratory impairment. Key symptoms typically include chronic cough, progressive dyspnea (shortness of breath), exercise intolerance, and in some cases recurrent respiratory infections. Chest imaging often reveals diffuse interstitial infiltrates, ground-glass opacities, or reticular patterns. Pulmonary function testing may show a restrictive ventilatory defect with impaired gas exchange. The severity and age of onset depend heavily on the specific underlying metabolic disorder, ranging from early childhood presentation to adult-onset disease. Treatment is directed primarily at the underlying metabolic condition when disease-specific therapy is available. For example, enzyme replacement therapy (ERT) has been shown to improve or stabilize pulmonary involvement in Gaucher disease and Fabry disease. Substrate reduction therapy may also be beneficial in certain lysosomal storage disorders. Supportive respiratory care, including supplemental oxygen, pulmonary rehabilitation, and management of infections, plays an important role. In severe cases, lung transplantation may be considered. Early diagnosis of the underlying metabolic disease is critical, as timely initiation of specific therapy may prevent or slow the progression of lung involvement.

Common questions about Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease