Case Of Pulmonary Alveolar Microlithiasis Research Articles

Losing vigilance in diagnosing pulmonary alveolar microlithiasis: A report on four cases

Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by calcium and phosphate deposition in the alveolar lumen throughout the parenchyma of both lungs, with predominance in the middle and lower lung fields. It is caused by mutations in the recessive gene, SLC34A2, on the autosomal chromosome. In this article, we characterize four cases of PAM and analyze the loss of diagnostic vigilance in two of them. Patients came to medical facilities with clinical manifestations such as cough, shortness of breath, chest pain, and fatigue. The initial diagnosis was unclear in two cases because the X-ray film’s quality was not good enough and the medical staff had little experience in clinical and chest X-ray interpretations for PAM. The definitive diagnosis was based on a combination of high-resolution computed tomography (CT) and bronchoalveolar lavage fluid testing. In addition, chest X-ray and high-resolution CT enable the assessment of the stage, progression, and severity of the disease. There is currently no specific treatment for PAM other than lung transplantation.

Microlithiase alvéolaire pulmonaire : à propos de deux cas familiaux au Maroc

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease. The majority of patients are asymptomatic. The disease is often diagnosed on routine radiological examination. We report two familial cases of PAM. A 17-year-old girl with a chest X-ray showing an alveolar syndrome, especially on the right side, a bronchointerstitial syndrome, and diffuse calcifications. The thoracic CT scan showed calcified micro- and macronodules with pleural and pericardial calcifications. Respiratory function tests showed restrictive syndrome and normal blood gas values suggestive if PAM, which was confirmed by the presence of microliths in bronchoalveolar lavage (BAL). Family investigation led to chest radiograph of a 14-year-old sister who was asymptomatic but presented with an aspect of "sandstorm" calcifications. PAM is known to be radio-clinically dissociative. In typical cases, radiology can suggest the diagnosis, which is often confirmed by SLC34A2 mutation or microliths in BAL or sputum. The prognosis is compromised in the long-term. The only effective treatment nowadays is lung transplantation.

Pulmonary Alveolar Microlithiasis in Moroccan Child: A Case Report

Background: Pulmonary alveolar microlithiasis (PAM) is a rare but not uncommon disease; it showed worldwide distribution either familial or sporadic, the most reported cases in Europe, especially in Turkey. The presence of round shaped little bodies containing concentric calcareous lamellas in pulmonary alveolus is the hallmark of the disease. With this study, we report a case of PAM in moroccan child, who complained of class 2 exertional dyspnoea with no significant personal or family history. On physical examination, there was no evidence of clubbing or cyanosis of the extremities. On auscultation, fine crackles were present bilaterally. Chest X-ray showed innumerable small dense nodules diffusely involving both lungs. High resolution CT scan showed extensive micro nodules, areas of diffuse ground glass attenuation, septal thickening and in some cases black pleural lines. The diagnosis confirmed by opened right lung biopsy and Broncho alveolar lavage, biopsy showed numerous lamellar (Calculi).

Spectrum of Clinical Presentation of Pulmonary Alveolar Microlithiasis: Case Series from North India

We describe five cases of pulmonary alveolar microlithiasis (PAM) from North India with characteristic radiological and histopathological features. All patients were symptomatic with variable severity and duration of the symptoms and one patient developed cor-pulmonale during the course of follow-up. Diagnosis of PAM was suspected on the basis of classical sand-storm appearance on radiological examination and confirmed by transbronchial lung biopsy in four of the five cases. Apart from other features, presence of pleural and pericardial calcification in one case makes this discussion valuable. Awareness of this specific entity among the clinicians is essential to avoid unnecessary investigations.

Pulmonary alveolar microlithiasis: A case report from Morocco with review of literature

Background: Pulmonary alveolar microlithiasis (PAM) is a rare infiltrative chronic lung disease characterized by deposition of spherical calcium phosphate microliths called calcospherites within the alveoli with predominance in lower and mid zones. Etiology and pathogenesis is not fully understood. Case presentation: We report a case of 58 year old female patient presenting with progressive shortness of breath and chronic bronchitis over a period of 4 years. Physical examination revealed she had signs of chronic respiratory failure. Chest radiograph showed dense micronodular opacities giving classical sandstorm appearance. High resolution computed tomography showed diffuse microcalcifications, bilateral ground glass attenuation and septal thickening with calcification along the interlobar septa and subpleural regions. Conclusion: According to our research this is the 15th case of PAM that has been declared in Morocco. Given the rarity of this entity, the purpose of this study was to increase knowledge of this disease among pulmonologists, in order to provide timely diagnosis.

PULMONARY ROCKS! A CASE OF PULMONARY ALVEOLAR MICROLITHIASIS

TOPIC: Diffuse Lung Disease TYPE: Fellow Case Reports INTRODUCTION: Pulmonary alveolar microlithiasis (PAM) is an extremely rare lung disease characterized by the development of calcium phosphate deposits (microliths) within the alveolar spaces. Genetic mutations in the SLC34A2 gene (solute carrier family 34 member 2 gene), which encodes for a sodium-phosphate co-transporter, have been described as the cause of the disease. This co-transporter is located on type II alveolar pneumocytes and is responsible for removing phosphate ions from the alveolar space. Without effective transport, phosphate ions bind to calcium ions leading to calcium phosphate deposits within the alveoli. Over time this often leads to pulmonary fibrosis and progressive respiratory failure. Here, we present a case of pulmonary alveolar microlithiasis that was initially suspected to be metastatic endometrial carcinoma. CASE PRESENTATION: A 37-year-old female presented to gynecology clinic for evaluation of abnormal uterine bleeding. Endometrial biopsy showed endometrioid adenocarcinoma of the uterus. Staging CT scans revealed bilateral adnexal masses, metastatic disease in the liver, peritoneal carcinomatosis, and concern for lymphangitic carcinomatosis in the lungs due to calcification of the pleura and diaphragm. Liver biopsy confirmed metastatic disease of ovarian primary consistent with synchronous stage IV ovarian cancer. She underwent chemotherapy with carboplatin and paclitaxel as well as abdominal hysterectomy and debulking surgery with good response; however, repeat CT chest showed persistent pulmonary disease with innumerable calcified micronodules and extensive pleural, fissural, and interlobular calcifications. Transbronchial biopsies were obtained and revealed diffuse intra-alveolar laminated concentric deposits consistent with microliths and diagnostic of pulmonary alveolar microlithiasis. At the time of diagnosis her pulmonary function testing showed mild restriction. She has no family history of pulmonary disease and had no pulmonary symptoms. Calcium supplements were discontinued, and she was treated with a low phosphorus diet. She continues to undergo monitoring for the development of symptoms as well as monitoring of her pulmonary function. DISCUSSION: PAM is an extremely rare genetic disease caused by a defective sodium-phosphate co-transporter that leads to the accumulation of microliths within the alveolar spaces. Pulmonary fibrosis and progressive respiratory failure is the typical cause of death, although the rate of progression is variable. There is no known effective treatment except for lung transplant. A low phosphorus diet, bisphosphonates, and repeated bronchoalveolar lavage have been studied without clear clinical benefit. CONCLUSIONS: (See Discussion) REFERENCE #1: Castellana G, Castellana G, Gentile M, Castellana R, Resta O. Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide. Eur Respir Rev. 2015 Dec;24(138):607-20. REFERENCE #2: Saito A, McCormack FX. Pulmonary Alveolar Microlithiasis. Clin Chest Med. 2016;37(3):441-448. doi:10.1016/j.ccm.2016.04.007. DISCLOSURES: No relevant relationships by Carlos Cardenas, source=Web Response No relevant relationships by Sakda Sathirareuangchai, source=Web Response No relevant relationships by Andrew Tomlinson, source=Web Response

Pulmonary Alveolar Microlithiasis - Report of Two New Cases and Review of the Literature

INTRODUCTION: Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the intra-alveolar accumulation of spherical calcified microliths, of a phospho-calcium nature, in the absence of any problem of phosphocalcium metabolism. The majority of patients are asymptomatic. The disease is often diagnosed on routine radiological examination.CASE REPORTS: We report two cases of PAM; A 17-year-old girl with three generations of consanguinity, who consulted for bronchial syndrome. Auscultation revealed very fine diffuse ronchi. The X-ray showed a bilateral alveolar syndrome, especially on the right, a bilateral bronchointerstitial syndrome, and diffuse bilateral calcifications. The thoracic CT scan showed calcified micro and macronodules with thickening of the septa, middle section involvement with fibrosing remodeling, fibrosis, and tractional bronchiectasis of the bases, pleural and pericardial calcifications. Respiratory function tests showed a restrictive syndrome with a vital capacity of 70% and normal GDS. This radiological and scanographic picture made us think of PAM. We then decided to carry out a family investigation with chest radiographs. All family members had normal radiographs, except for a sister who was three years old, with no particular history, no functional respiratory signs, and no particular complaints. Her chest radiograph showed the famous sandstorm appearance of microcalcifications, with pulmonary distension at the apexes and retractions at the bases. Spirometry and blood gases were normal. Chest CT found microcalcifications, with bilaterally distributed and diffuse ground-glass aspects, with a slight right-hand predominance.CONCLUSION: MLA is known to be radio-clinically dissociative. The diagnosis can be made by radiology alone in typical cases; sometimes, Transbronchial or surgical lung biopsies are needed. The prognosis is compromised in the long term. The only effective treatment nowadays is lung transplantation.

Comprehensive Imaging-Guided Optimization of the Surgical Management of Patients with Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease with poor prognosis. The only effective treatment to date, is lung transplantation in the severest cases. However, the etiology of PAM has been recently deciphered, and the treatment paradigm is shifting. We report a case of PAM and propose an optimized imaging-guided management based on the current state of the art.

PROGRESSION OF PULMONARY ALVEOLAR MICROLITHIASIS TO PULMONARY HYPERTENSION AND COR PULMONALE

SESSION TITLE: Wednesday Fellows Case Report Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/23/2019 09:45 AM - 10:45 AM INTRODUCTION: Pulmonary alveolar microlithiasis (PAM) is a rare disease with less than 600 cases described in the literature. It is characterized by accumulation of calcium phosphate in the alveolar space. (1) Radiographic features are pathognomonic but clinical manifestations are non-specific. We present a case of PAM with progressive deterioration over 20 years leading to pulmonary hypertension (pHTN) and cor pulmonale. CASE PRESENTATION: A Caucasian female presented in her late 20s with pleurisy and based on imaging was diagnosed with sarcoidosis. She was relatively asymptomatic and went without treatment until her 40’s when she developed worsening dyspnea on exertion. PFTs showed mild restrictive lung disease (TLC 3.86L, 78% predicted) with a DLCO of 44%. CT Chest showed diffuse micronodular calcifications, consistent with PAM, not sarcoidosis. Her symptoms progressed over the next 10 years as lung function worsened, showing progressive restriction (TLC 2.97L, 57% predicted) with a DLCO of 4%. Her serial TTEs showed gradual development of right ventricular enlargement, right ventricular hypokinesis, and interventricular septum flattening. Patient underwent right heart catheterization, showing right atrial pressure 10 mmHg, pulmonary artery pressure 66/28 with mPAP 43 mmHg, LVEDP 13 mmHg and cardiac index 3.12 L/m/m2. A trial of tadalafil was attempted without improvement in symptoms and was discontinued. At age 68, the patient presented with acute on chronic hypoxemic respiratory failure with RV failure. CT Chest done demonstrated diffuse calcifications of the lung parenchyma, right ventricular septal bowing, and reflux of contrast into the hepatic veins. Despite aggressive diuresis and supportive care, the patient died from cardiopulmonary failure. DISCUSSION: This case illustrates the progression of PAM with clinical symptoms and radiographic features correlating with decline of pulmonary function, particularly restriction and diffusion capacity. Etiology of PAM remains unclear but has been linked to genetic mutations in SLC34A2 (1). Radiographic characteristics of fine sand-like micronodular calcifications, known as sandstorm, is pathognomonic. We captured the structural effect and strain on the right heart with development of pHTN, likely secondary to chronic hypoxia. Additionally, microliths can irritate alveolar walls, leading to destruction of alveolar capillaries and cause of pHTN. (2) PAM associated pHTN is rarely described as PAM is a rare entity and patients often die from respiratory failure prior to development of pHTN. Treatment is limited to case reports and is not defined (3). CONCLUSIONS: PAM associated with pHTN is infrequently described. Currently, there is still no effective treatment for PAM aside from lung transplant. The treatment of PAM associated pHTN is even more unclear and use of PAH-targeted therapy requires further studies. Reference #1: Lina M. Jönsson Å, Simonsen U, Hilberg O, Bendstrup E. Pulmonary alveolar microlithiasis: two case reports and review of the literature. European Respiratory Review. 2012;21(125):249. Reference #2: Ferreira Francisco FA, Pereira e Silva JL, Hochhegger B, Zanetti G, Marchiori E. Pulmonary alveolar microlithiasis. State-of-the-art review. Respiratory Medicine. 2013;107(1):1-9. Reference #3: Synetos A, Dilaveris P, Gialafos E, Giannopoulos G, Stefanadis C. Severe pulmonary hypertension due to pulmonary alveolar microlithiasis. International Journal of Cardiology. 2006;106(3):396-7. DISCLOSURES: No relevant relationships by Alexandra Haw, source=Web Response No relevant relationships by Ronak Shah, source=Web Response Speaker/Speaker's Bureau relationship with Bayer Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Speaker/Speaker's Bureau relationship with United Therapeutics Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Speaker/Speaker's Bureau relationship with Gilead Please note: $1001 - $5000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Speaker/Speaker's Bureau relationship with Genentech Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Speaker/Speaker's Bureau relationship with Boehringer Ingelhein Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Stock Ownership relationship with Pfizer Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=nothing, I purchased stock Speaker/Speaker's Bureau relationship with Portola Please note: $1001 - $5000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Honoraria Stock Ownership relationship with Portola Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=nothing, I purchased stock Stock Ownership relationship with La Jolla Pharmaceuticals Please note: $1001 - $5000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=nothing, I purchased stock Stock Ownership relationship with Seatle Genetics Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=nothing, I purchased stock PI relationship with United Therapeutics Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Grant/Research Support PI relationship with Actelion Please note: $5001 - $20000 Added 03/13/2019 by Paul Strachan, source=Web Response, value=Grant/Research Support

A Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy.

Pulmonary alveolar microlithiasis is a rare infiltrative pulmonary disease, in which intraalveolar accumulation of small stones (microliths) consisting of calcium phosphatite occurs. It is an autosomal recessive disorder. The disease occurs as a result of the disruption of type IIb sodium phosphate cotransporter in type II alveolar cells after the mutation of SLC34A2. Majority of patients are diagnosed between age 20 and 40. Here, we present a case of alveolar microlithiasis that was diagnosed with transbronchial biopsy.

A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in SLC34A2 (c.1390 G>C [G464R] in exon 12).

Pulmonary alveolar microlithiasis: imaging characteristics of planar and SPECT/CT bone scan versus 18F-FDG and 18F-sodium fluoride PET/CT scanning

Pulmonary alveolar microlithiasis (PAM) is a very rare disease in which multiple microscopic calcium phosphate microliths are deposited within the alveoli of both lungs. A lung biopsy is considered to be definitive for final diagnosis; however, non-invasive imaging modalities such as chest X-ray, HRCT scan and (99m)Tc-MDP bone scan suggest the diagnosis in the vast majority of patients. Although (18)F-FDG PET/CT has been tried to characterize the disease, (18)F-sodium fluoride PET/CT as a 'proof-of-principle' was tried for the first time in a known case of PAM in order to characterize the lung lesions. Interestingly, we noted that (18)F-sodium fluoride PET/CT is a superior modality in characterization and assessment of the extent of disease in PAM compared to all other non-invasive imaging modalities. Thus, we recommend that (18)F-sodium fluoride PET/CT should be the investigation of choice in PAM.

Pulmonary Alveolar Microlithiasis

A 59-year-old Middle Eastern female with a history of pulmonary alveolar microlithiasis (PAM) was referred to our clinic for second opinion. The patient had been diagnosed in her childhood but was asymptomatic until she developed exertional dyspnea at the age of 54 years. Chest examination revealed bibasilar crackles. Pulmonary function tests revealed mild restriction and reduced diffusing capacity. Six-minute-walk test revealed normal exercise capacity (distance walked, 1,800 ft) with mild exertional desaturation to 88%. Chest X-ray (Figure 1) showed remarkable, fine nodular lower lung zone opacities, and computed tomography of the chest (Figures 2–4) showed symmetrical lower lobe predominant micronodular calcifications along bronchovascular bundles and interlobular septal thickening, findings pathognomonic for PAM (1). PAM is caused by inactivating mutations in the SCL34A2 gene (2, 3). The mutation leads to reduced phosphate reuptake by type IIb sodium phosphate transporter in the apical membrane of type II alveolar cells, resulting in calcium phosphate chelation and microlith formation in alveolar air spaces. PAM is associated with consanguinity, and the incidence is higher in Turkey, Japan, India, and Italy. PAM can be diagnosed on the basis of characteristic radiological findings (4), and biopsy is not usually required. The clinical course of PAM is highly variable, with some patients developing pulmonary fibrosis and others remaining asymptomatic for decades. Etidronate, a bisphosphonate, reduces the formation of calcium hydroxyapatite crystals and has led to clinical and radiological improvement in few cases of PAM (5). The patient was started on treatment with etidronate.

Sjögren sendromunun eşlik ettiği pulmoner alveoler mikrolitiazis olgusu

Sjögren sendromunun eşlik ettiği pulmoner alveoler mikrolitiazis olgusu

Two Cases of Pulmonary Alveolar Microlithiasis in a Family

Pulmonary alveolar microlithiasis is a disease of unknown etiology. The disorder affects people at every age beginning from the early childhood. It usually occurs in a sporadic form, but an autosomal recessive form has been described, especially in patients from the Mediterranean countries. Our cases were in one family. A 44 years old man and his younger(35 years old) sister. Both of them complaint of dyspnea, bluish discolouration of face and extremities (acrocyanosis), clubbing, and coughing We evaluate both of them. These are findings in the male patient, and his sister had very similar findings. CXR and CT scan findings imply that we had 2 case of pulmonary alveolar microlithiasis (PAM). DOI: http://dx.doi.org/10.3329/jom.v14i1.14583 J MEDICINE 2013; 14 : 80-82

Pulmonary alveolar microlithiasis

Introduction: Pulmonary alveolar microlithiasis is an important cause of diffuse parenchymal lung disease and is characterised by calculospherites in the alveolar spaces. Usually occurring in the 4th to 6th decade. Sex distribution is roughly equal. Clinical course is progressive and fatal. About 300 cases of pulmonary alveolar microlithiasis have been reported in literature. Case Report: Here we report a case of a 56­year­old male who presented with progressively increasing breathlessness. Imaging revealed characteristic “sandstorm” appearance on X­ray. A transbronchial lung biopsy confirmed the diagnosis of pulmonary alveolar microlithiasis. Conclusion: The etiology of pulmonary alveolar microlithiasis is unknown and there is no definite medical treatment. Hence, therapy is mostly empirical.

Pulmonary alveolar microlithiasis: two case reports and review of the literature

Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterised by deposition of calcium phosphate within the alveolar airspaces. The disease is usually discovered from birth up to 40 yrs of age and is often diagnosed incidentally during radiography of the chest for other reasons. Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies. While it remains static in some patients, it progresses into pulmonary fibrosis, respiratory failure and cor pulmonale in others. With the exception of lung transplantation, there is no known effective treatment for the disease. Although the aetiology remains unclear, mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium/phosphate co-transporter, are considered to be the cause of the disease. We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described, and a review of the literature.

A case of pulmonary alveolar microlithiasis with Cor Pulmonale.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the formation and deposition of microliths within the alveoli and a paucity of symptoms in contrast to the imaging findings. It has familial tendency and is thought to be an autosomal recessive disorder with the mutation in the SLC34A2 gene. We describe a case of PAM with Cor Pulmonale. Ultrasonic cardiogram showed pulmonary hypertension (82 mmHg). Chest radiography revealed diffuse, bilateral sandstorm-like micronodules with greater density in the lower lung fields. HRCT scans demonstrated diffuse ground-grass opacities, thickening and calcification of interlobular septa and confluent calcified nodules. A diagnosis of PAM was suggested and confirmed by transbronchial lung biopsy (TBLB).

Images- Pulmonary Alveolar Microlithiasis (PAM)

Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown origin in which calcific concretions collect in alveolar spaces. No known cause for the disease had been identified and there appears to be no systemic disorder of calcium metabolism. Plain chest X-ray shows a white lung consisting of fine sandlike micro calcification diffusely scattered throughout both lungs with high density at lung basis. CT reveals ground glass haze with inter and intra lobular septal thickening suggestive of crazy paving pattern. We here report the typical X-ray and HRCT images of a case of PAM: a rare disease characterized by wide spread sand like intra alveolar calcifications.

A Case of Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease with unknown etiology and pathogenesis. It is characterized by diffuse, innumerable, and minute calculi, called microlithiasis in the alveoli. More than half of reported cases are asymptomatic at the time of diagnosis. We describe the first case of PAM in Korea. A 19-yr-old man without respiratory symptoms presented with interstitial thickening on the chest radiograph. His chest high resolution CT scan showed diffusely scattered, ill defined tiny micronodules and interstitial thickening. Open lung biopsy confirmed the diagnosis of PAM. He was followed up for 6 months without treatment, and no progression was noticed.