Pulmonary Alveolar Microlithiasis in a Young Man Undergoing Lung Transplantation: A Case Report

Abstract

Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of microliths in the alveoli, attributed to mutations in the solute carrier family 34 member 2 (SLC34A2) gene. Diagnosis is often incidental to chest imaging, most frequently occurring between the second and fourth decades of life. The disease follows a progressive course and manifests with a clinical-radiological dissociation. No effective treatment is known except for lung transplantation.

We report on a 28-year-old Hispanic male patient with no relevant personal or family history, presenting with progressive exertional dyspnea and intermittent dry cough. He was referred for evaluation by pulmonology due to abnormal findings on chest x-ray. High-resolution computed tomography revealed diffuse lung opacities caused by multiple microcalcifications, suggesting pulmonary alveolar microlithiasis with additional signs of pulmonary hypertension. Throughout his clinical course, he experienced a decline in functional class with severe impairment in pulmonary function tests. He underwent transplant evaluation, and the procedure was performed, with reported complications including airway stenosis, which were managed. Despite these challenges, the patient eventually showed positive progress and maintained an adequate functional class.

Pulmonary alveolar microlithiasis is a rare disease with a chronic clinical course and variable manifestations. Its progressive deterioration leads to chronic respiratory failure. A high index of suspicion is required when evaluating characteristic radiological findings and conducting relevant differential diagnoses. No specific treatment guidelines are available, and lung transplantation emerges as the only effective therapy, as illustrated in the described patient.