Storage Diseases



Storage Diseases


Alvaro C. Laga

Timothy C. Allen

Megan K. Dishop

Philip T. Cagle



Several storage diseases may involve the lungs, and some of these diseases cause significant pulmonary disease. Extrapulmonary manifestations generally account for most of the signs and symptoms of storage diseases, and involvement of the lung is common although clinically inapparent. When signs and symptoms of lung involvement by storage diseases occur, they most commonly present as diffuse interstitial lung disease. In this chapter, we discuss two examples of such diseases.

Niemann-Pick disease is a lipid storage disease associated with the deficiency or absence of acid sphingomyelinase. Although patients with type A disease generally die within a few years of birth, patients with type B disease often live into adulthood. Progressive pulmonary infiltration may occur with disease progression typical of type B patients and is a major cause of mortality and morbidity in these patients. Chest x-ray film often shows diffuse or finely nodular reticular infiltrates.

Cholesteryl ester storage disease (CESD) is a rare form of inherited lysosomal lipid storage disease due to deficiency of acid lipase. It results in an accumulation of neutral lipids, predominantly cholesterol esters, within different cells, including pulmonary interstitial cells, alveolar macrophages, fibroblasts, and hepatocytes. CESD is associated with extensive systemic atherosclerosis with prominent involvement of the pulmonary vasculature and consequent pulmonary hypertension.

Jul 14, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Storage Diseases

Full access? Get Clinical Tree

Get Clinical Tree app for offline access