Pulmonary emphysema in a nonsmoking patient with Salla disease

Severe emphysema is reported in a patient with Salla disease, a recessively inherited disorder of sialic acid metabolism that leads to intralysosomal accumulation of free sialic acid in cells of various tissues. The disease is among the rare genetically determined diseases typical of the Finnish population. The patient was 41 yr old at the time of his death. He had been a nonsmoker with no evidence of alpha-1-antitrypsin deficiency. Chest radiographs suggested that severe emphysema had developed during the last 4.5 yr of his life. Emphysema was also documented by postmortem radiography, which showed it to be located mainly in the lower lobes. The uneven distribution of tissue destruction within individual lobules, as shown in histologic sections, indicated a centrilobular type of emphysema, which was probably related to the basic storage disease. Thus, some involvement of storage lysosomes in altering the functioning of pulmonary macrophages is suspected. The serum proteinase inhibitory capacity as well as the alpha-1-antitrypsin phenotypes were normal among 5 brothers and sisters of the patient, 1 of whom was affected by the disease. The exact pathogenetic mechanism(s) for the rapid development of severe emphysema in this rare case of Salla disease remains unclear.