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Pulmonary alveolar microlithiasis: review of Italian reports
S Mariotta1, L Guidi, M Papale
1Università La Sapienza, Dipartimento Scienze Cardiovascolari e Respiratorie, Ospedale Carlo Forlanini, Rome, Italy.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology, characterized by the presence of calcific concretions in the alveolar spaces. A familial occurrence is frequently found so that an inherited trait is thought to be involved. The chest X-ray is characterized by a 'sandstrom' picture while the clinical state undergoes to a slow and progressive impairment resulting in respiratory failure at the end stage. We have reviewed the Italian literature of the past 50 years detecting 48 case-reports of PAM (19 males and 29 females). Only 20 out of them were documented in international journals. A familial occurrence of 43.7% was found and 18 patients were under age fifteen. There was a prevalence in the female sex (60.4%) and in the second decade of life. Chest X-ray was the most important tool to diagnose PAM revealing the characteristic picture in all patient. Bronchoalveolar lavage (BAL) and open lung biopsy respectively show the characteristic calcospherites in the recovered fluid (BALF) and in the alveolar spaces. About 300 cases of PAM are reported in the international literature. We believe these data are probably underestimated because many case-reports are not published in international literature.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease with calcific deposits. This review of Italian literature found a high familial occurrence and female prevalence, often diagnosed via chest X-ray.
Area of Science:
- Pulmonology
- Rare Diseases
- Genetics
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by calcific concretions in alveolar spaces.
- Familial occurrence suggests an inherited trait is involved in PAM.
- The disease progresses to respiratory failure, with chest X-ray showing a distinctive 'sandstrom' pattern.
Purpose of the Study:
- To review Italian case reports of Pulmonary alveolar microlithiasis over the past 50 years.
- To analyze demographic, clinical, and diagnostic features of PAM in Italy.
- To highlight the underreporting of PAM cases in international literature.
Main Methods:
- Systematic review of Italian literature on Pulmonary alveolar microlithiasis from the past 50 years.
- Data extraction included patient demographics, familial occurrence, age at diagnosis, and diagnostic methods.
- Analysis of diagnostic tools such as chest X-ray, bronchoalveolar lavage (BAL), and lung biopsy.
Main Results:
- 48 case reports of PAM were identified in the Italian literature (19 males, 29 females).
- A familial occurrence rate of 43.7% was observed, with 18 patients diagnosed before age fifteen.
- PAM showed a prevalence in females (60.4%) and diagnosis often occurred in the second decade of life. Chest X-ray was the primary diagnostic tool.
Conclusions:
- Pulmonary alveolar microlithiasis in Italy exhibits a significant familial component and a female predominance.
- Chest X-ray remains the most effective diagnostic method for identifying PAM.
- Many Italian PAM case reports are not published internationally, suggesting potential underestimation of the disease's prevalence.