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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.

Pulmonary Alveolar Microlithiasis: A Rare Familial Inheritancewith R eport of Six Cases in a Family

“…In addition, some of the patients reported from foreign countries in the following years were Turks ethnically [7, 15, 16, 17]. Where family histories were available, nearly half were positive for the disease [5, 6, 18], confirming previous reports that PAM may be a familial disease and suggesting that the genetic predisposition is most common in Turkey. The absence of any other cases except the reported family among the village population led us to think that the environmental factors did not have a role in the disease etiology.…”

“…Meeting of two heterozygotic individuals to cause the disease in one of their children is also very interesting, but genetic predisposition may not be responsible in this case because familial occurrence has been noted in about 50% of cases [21]. The incidence of the disease in males and females is the same [5, 6, 13, 18]. Another point of interest is that all of our cases are males in contrast to other studies.…”

“…It is a rare affection as there are now about 300 cases reported in the world literature (up to 1997) [6]. Uçan et al [14]reported their cases with PAM in the Turkish literature between 1962 and 1993, which constituted 23% of all 225 cases published all around the world up to that time.…”

“…These deposits are of sufficient density to be almost diagnostic on chest roentgenograms [5]. A familial occurrence is frequently found so that an inherited trait is thought to be involved [6, 7, 8]. The radiographic picture of the chest is typical.…”

Familial Pulmonary Alveolar Microlithiasis

“…Not more than 30 cases are reported in literature from different regions of India till to date. 7 Pulmonary alveolar Microlithiasis occurs equally in both sexes 8 and in all age groups from new born to 80yrs, majority of them are diagnosed between 30-50 yrs.…”