Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore?
Pulmonary alveolar microlithiasis (PAM) is a rare entity, presenting mostly as an incidental finding. This disease has an autosomal recessive inheritance with inactivating mutations in the gene “solute carrier family 34 member 2”. The present study was conducted to bring attention to this rare thoug...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
University of São Paulo
2020-01-01
|
| Series: | Autopsy and Case Reports |
| Subjects: | |
| Online Access: | http://www.revistas.usp.br/autopsy/article/view/165997 |
| _version_ | 1828489791757352960 |
|---|---|
| author | Manisha Agarwal Gurpreet Singh Bhalla Kavita Sahai |
| author_facet | Manisha Agarwal Gurpreet Singh Bhalla Kavita Sahai |
| author_sort | Manisha Agarwal |
| collection | DOAJ |
| description | Pulmonary alveolar microlithiasis (PAM) is a rare entity, presenting mostly as an incidental finding. This disease has an autosomal recessive inheritance with inactivating mutations in the gene “solute carrier family 34 member 2”. The present study was conducted to bring attention to this rare though preventable disease. The study was a cross-sectional descriptive study, conducted at the Department of Pathology, of a tertiary care hospital in New Dehli-India. PAMs were incidentally seen in two patients diagnosed with micronodular hepatic cirrhosis leading to reanalysis of 212 autopsies, retrospectively. Statistical analysis was done using Stata 14.0. We observed three forms (Type A, B and C) of round hyaline bodies measuring in 200-800µm diameter with thin delicate, radiating fibrils. These bodies were PAS positive, showed black discolouration of the pigment with von Kossa stain and birefringence on polarized microscopy using Congo red stain, however the refringence was light green as compared to apple green birefringence seen with amyloid deposition. PAM has a slow progressive course leading to a high rate of incidental detection. Drugs known to inhibit the micro-crystal growth of hydroxyapatite may slow the disease progression. The family members of patients with PAM may also be kept on follow up with regular imaging. Key messages: It is important to bring out the incidental finding as, seemingly innocuous observations may provide valuable insight into incurable diseases, especially rare diseases. |
| first_indexed | 2024-12-11T10:33:01Z |
| format | Article |
| id | doaj.art-1a80ee4d79cb4ffea1b821156a8f168b |
| institution | Directory Open Access Journal |
| issn | 2236-1960 |
| language | English |
| last_indexed | 2024-12-11T10:33:01Z |
| publishDate | 2020-01-01 |
| publisher | University of São Paulo |
| record_format | Article |
| series | Autopsy and Case Reports |
| spelling | doaj.art-1a80ee4d79cb4ffea1b821156a8f168b2022-12-22T01:10:51ZengUniversity of São PauloAutopsy and Case Reports2236-19602020-01-0110110.4322/acr.2019.133Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore?Manisha Agarwal0Gurpreet Singh Bhalla1Kavita Sahai2Army hospital (R&R), Department of Laboratory sciencesArmy hospital (R&R), Department of Laboratory sciencesArmy hospital (R&R), Department of Laboratory sciencesPulmonary alveolar microlithiasis (PAM) is a rare entity, presenting mostly as an incidental finding. This disease has an autosomal recessive inheritance with inactivating mutations in the gene “solute carrier family 34 member 2”. The present study was conducted to bring attention to this rare though preventable disease. The study was a cross-sectional descriptive study, conducted at the Department of Pathology, of a tertiary care hospital in New Dehli-India. PAMs were incidentally seen in two patients diagnosed with micronodular hepatic cirrhosis leading to reanalysis of 212 autopsies, retrospectively. Statistical analysis was done using Stata 14.0. We observed three forms (Type A, B and C) of round hyaline bodies measuring in 200-800µm diameter with thin delicate, radiating fibrils. These bodies were PAS positive, showed black discolouration of the pigment with von Kossa stain and birefringence on polarized microscopy using Congo red stain, however the refringence was light green as compared to apple green birefringence seen with amyloid deposition. PAM has a slow progressive course leading to a high rate of incidental detection. Drugs known to inhibit the micro-crystal growth of hydroxyapatite may slow the disease progression. The family members of patients with PAM may also be kept on follow up with regular imaging. Key messages: It is important to bring out the incidental finding as, seemingly innocuous observations may provide valuable insight into incurable diseases, especially rare diseases.http://www.revistas.usp.br/autopsy/article/view/165997Incidental FindingsAutopsyCalcificationPhysiologic |
| spellingShingle | Manisha Agarwal Gurpreet Singh Bhalla Kavita Sahai Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? Autopsy and Case Reports Incidental Findings Autopsy Calcification Physiologic |
| title | Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? |
| title_full | Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? |
| title_fullStr | Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? |
| title_full_unstemmed | Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? |
| title_short | Pulmonary alveolar microlithiasis: Incidental finding - should we Ignore? |
| title_sort | pulmonary alveolar microlithiasis incidental finding should we ignore |
| topic | Incidental Findings Autopsy Calcification Physiologic |
| url | http://www.revistas.usp.br/autopsy/article/view/165997 |
| work_keys_str_mv | AT manishaagarwal pulmonaryalveolarmicrolithiasisincidentalfindingshouldweignore AT gurpreetsinghbhalla pulmonaryalveolarmicrolithiasisincidentalfindingshouldweignore AT kavitasahai pulmonaryalveolarmicrolithiasisincidentalfindingshouldweignore |