Early-onset idiopathic severe emphysematous lung disease complicated by chronic pulmonary aspergillosis in a young adult: a case report

Background Emphysematous lung disease most commonly results from cigarette smoking, environmental exposures, or alpha-1 antitrypsin deficiency (AATD). However, severe diffuse emphysema occurring in young adults without any identifiable predisposing factors is extremely rare. Such cases pose diagnostic and therapeutic challenges, as conventional etiologies fail to explain the degree of parenchymal destruction. We report a case of severe idiopathic emphysematous lung disease in a young adult with no known risk factors, later complicated by secondary Aspergillus infection. Case presentation A 29-year-old male, previously healthy, presented with recurrent episodes of dyspnea, productive cough, and low-grade fever over three months. He had no significant smoking history, environmental or occupational exposures, or systemic illness. Chest imaging revealed diffuse centrilobular and pan-lobular emphysematous changes predominantly affecting the upper lobes. Alpha-1 antitrypsin level and whole-exome sequencing were normal, excluding hereditary causes. Pulmonary function testing demonstrated a mixed obstructive and restrictive pattern consistent with severe structural lung disease. During follow-up, the patient experienced recurrent respiratory infections with progressive radiologic changes. Bronchoalveolar lavage during a later admission demonstrated a strongly positive galactomannan assay, confirming secondary pulmonary aspergillosis. He was treated with intravenous followed by oral voriconazole, resulting in gradual symptomatic and biochemical improvement. Conclusions This case highlights an unusual presentation of severe diffuse emphysema in a young adult without classical risk factors or genetic predisposition. Idiopathic early-onset emphysematous lung disease represents a diagnostic challenge requiring exclusion of AATD, autoimmune, infectious, and environmental causes. Structural lung destruction in such patients predisposes to opportunistic infections, emphasizing the importance of vigilant long-term follow-up. Awareness of this rare entity may improve early recognition and guide appropriate management strategies.