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Pulmonary Alveolar Microlithiasis: An Isolated Case in a Hispanic Male
Preethi Dileep Menon1, Sarah Hackman1
1Department of Pathology and Laboratory Medicine, University of Texas Health, 7703 Floyd Curl Drive, MC#7750, San Antonio, Texas 78229, USA.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is an uncommon hereditary lung disease characterized by widespread deposition of calcium phosphate microliths within the alveolar spaces. It is considered an autosomal recessive disease with a mutation in a gene encoding a sodium phosphate cotransporter. The imaging findings in the early phase of disease can be mistaken for miliary tuberculosis or sarcoidosis. However, the classic radiologic findings in the later phases of disease show numerous opacities causing a "snowstorm" appearance to the lungs that corresponds with widespread deposition of microliths throughout the lung parenchyma. Although the disease often progresses over a slow time course, there are no effective therapies, and bilateral lung transplantation is recommended when there are increasing oxygen requirements or evidence of pulmonary hypertension.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease caused by calcium phosphate buildup. Early diagnosis is key, as advanced stages show a distinct "snowstorm" lung appearance, with lung transplant as a last resort.
Area of Science:
- Pulmonology
- Genetics
- Radiology
Background:
- Pulmonary alveolar microlithiasis (PAM) is an uncommon hereditary lung disease.
- It is characterized by widespread deposition of calcium phosphate microliths within the alveolar spaces.
- PAM is an autosomal recessive disease linked to mutations in a sodium phosphate cotransporter gene.
Observation:
- Early-stage imaging findings can mimic miliary tuberculosis or sarcoidosis.
- Later disease phases exhibit numerous opacities, creating a characteristic "snowstorm" appearance on chest imaging.
- This "snowstorm" appearance reflects extensive microlith deposition throughout the lung parenchyma.
Findings:
- The disease involves the deposition of calcium phosphate microliths in the alveoli.
- Genetic mutations in sodium phosphate cotransporters are implicated.
- Radiographic findings evolve from subtle early changes to a diffuse "snowstorm" pattern.
Implications:
- Accurate diagnosis is crucial, distinguishing PAM from other granulomatous lung diseases.
- No effective therapies currently exist for PAM.
- Bilateral lung transplantation is the recommended treatment for advanced disease with respiratory compromise or pulmonary hypertension.
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