PULMONARY ALVEOLAR MICROLITHIASIS. DISCREPANCIES BETWEEN RADIOLOGICAL FINDINGS AND CLINICAL PATTERN- CASE STUDY

Area of Science:

• Pulmonology
• Rare Genetic Diseases
• Respiratory Medicine

Background:

• Pulmonary alveolar microlithiasis is a rare autosomal recessive genetic disorder.
• Characterized by intra-alveolar deposition of calcium and phosphorus-rich microliths.
• This case study focuses on the management of a patient with this condition.

Observation:

• A 49-year-old woman with diagnosed pulmonary alveolar microlithiasis presented with increased dyspnea.
• Chest CT scan showed advanced disease, with pulmonary function tests revealing mild restriction and moderate diffusion impairment.
• Severe hypoxemia was noted during a 6-minute walking test, prompting referral for lung transplant evaluation.

Findings:

• The patient's clinical status did not correlate with radiological findings, respiratory symptoms, or cardiac complications.
• Despite advanced radiological signs, the patient's overall condition suggested that a Computer Tomography scan alone should not be the sole criterion for lung transplantation.
• The patient was monitored at 6-month intervals per International Society for Heart & Lung Transplantation guidelines to assess disease progression.

Implications:

• This case underscores the importance of a comprehensive clinical assessment beyond imaging for managing pulmonary alveolar microlithiasis.
• It suggests that radiological evidence of disease progression may not always align with a patient's functional status or need for advanced interventions like lung transplantation.
• Further research into the correlation between imaging, clinical presentation, and outcomes in pulmonary alveolar microlithiasis is warranted to refine treatment guidelines.