Presentation
Sporadic cases are more common, but the disease also presents in an inherited familial form. The greatest number of reported cases is from Europe and especially Turkey. We present a 43-year-old female with complaints of dyspnea for many years. [ncbi.nlm.nih.gov]
This gives the radiographic typical presentation of a “white lung” appearance, which was the presentation of our patient. [cureus.com]
Respiratoric
- Cough
A 23-year-old female presented with a history of cough, wheeze, chest pain, and episodic wheeze for five months. [ncbi.nlm.nih.gov]
- Dry Cough
The patient had persistent dry cough, and gradually progressive dyspnea on exertion. The diagnosis was established on the basis of roentgenography and confirmed by the sputum and transbronchial biopsy findings. [ncbi.nlm.nih.gov]
We report a case of a 20-year-old man with a history of shortness of breath on exertion and dry cough. Physical examination was altered only for crackles at auscultation. [pjcm.net]
- Hemoptysis
There was no history of expectoration, hemoptysis, chest pain, or tuberculosis. General physical examination showed no evidence of clubbing of the nails or lymphadenopathy. [ncbi.nlm.nih.gov]
There was no history of fever, hemoptysis or chest pain. Patient was a non-smoker. There was no history of tuberculosis within the family members or any known history of pulmonary disease. [ijcasereportsandimages.com]
The most common symptoms include the following: dyspnea dry cough chest pain sporadic hemoptysis asthenia pneumothoraces PAM is hereditary and another involved family member can be identified in 36% to 61% of cases. [en.wikipedia.org]
However, a certain degree of dyspnea with a productive cough may occur together with a sporadic hemoptysis and thoracic pains. [scienceopen.com]
- Pulmonary Disorder
[…] is a rare pulmonary disorder of unknown etiology characterized by intra-alveolar development and deposition of microliths or calcispherytes consisting of calcium phosphate. [thieme-connect.com]
- Sneezing
Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths. Pulmonary alveolar microlithiasis is usually diagnosed before age 40. [ghr.nlm.nih.gov]
Cardiovascular
- Systolic Murmur
Apart from a systolic murmur, the clinical examination was normal. 1 Pulmonary function tests showed a mild restrictive pattern. [wasog.org]
Apart from a systolic murmur, the clinical examination was normal. Echocardiography showed bicuspid aortic valve with discrete degenerative changes. Pulmonary function tests showed a mild restrictive pattern ( table 1 ). [err.ersjournals.com]
Musculoskeletal
- Back Pain
We report a case of 35-year-old woman who presented post-motor vehicle accident with back pain and with minimal dyspnea on exertion. The final diagnosis was made after computed tomography and lung biopsy. [cureus.com]
Neurologic
- Cerebellar Ataxia
• Scar carcinoma Docsity.com NIEMANN-PICK DISEASE • Hepatosplenomegaly • Hemostatic defects • Platelet dysfunction • cerebellar ataxia: occasionally • ILD: appears as diffuse nodular infiltrates on CXR: usually asymptomatic Docsity.com [docsity.com]
Workup
X-Ray
- X-Ray Abnormal
A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. [ncbi.nlm.nih.gov]
- Chest X-Ray Abnormal
A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. [ncbi.nlm.nih.gov]
Pulmonary Function Test
- Restrictive Pulmonary Function
Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies. [ncbi.nlm.nih.gov]
Many patients have no clinical symptoms, and most of the cases either have normal pulmonary function or a mild restrictive pattern [ 11, 19 ]. [err.ersjournals.com]
Treatment
Hui-Ying Wang, Update on diagnosis and treatment of pulmonary alveolar microlithiasis, World Journal of Respirology, 4, 3, (26), (2014). [doi.org]
The recent development of a laboratory animal model has revealed several promising treatment approaches for future trials. Published by Elsevier Inc. [ncbi.nlm.nih.gov]
The lack of efficacy in our patients might be due to an insufficient duration of treatment, the maximum duration of treatment being 2 yrs in case two. [err.ersjournals.com]
Prognosis
The long-term prognosis is poor and no treatment has been discovered to date. The aim of this review is to describe the main pathological, clinical, and imaging aspects of PAM, ranging from its genetic basis to treatment. [ncbi.nlm.nih.gov]
Treatment and prognosis No known treatment is available. Overall prognosis is good but occasionally slow progression can result in end-stage lung fibrosis requiring lung transplantation. [radiopaedia.org]
Scrutiny of the long-term follow-up data of PAM patients reveals that the prognosis for PAM is poor. The establishment of an effective treatment, which is not yet available, is mandatory. [doi.org]
Differential Diagnosis Same "crazy-paving" described with alveolar proteinosis may be seen in microlithiasis Silicosis Metastatic calcification in renal disease Treatment None Complications Respiratory insufficiency Cyanosis Clubbing Pulmonary hypertension Prognosis [learningradiology.com]
Etiology
Pulmonary alveolar microlithiasis is an inherited disorder of unknown etiology. It is a rare disease characterized by calcified intraalveolar microgranules. [ncbi.nlm.nih.gov]
Epidemiology
@article{Mariotta1997PulmonaryAM, title={Pulmonary alveolar microlithiasis: Review of Italian reports}, author={Salvatore Mariotta and Laura Guidi and Maria Rosaria Papale and Alessandro Ricci and Alberto Bisetti}, journal={European Journal of Epidemiology [semanticscholar.org]
The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December [ncbi.nlm.nih.gov]
Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models [books.google.com]
Pathophysiology
We suspect that the markedly enhanced pulmonary FDG uptake may have some relation to the pathophysiology of PAM. [ncbi.nlm.nih.gov]
Pathophysiology The alveoli in pulmonary alveolar proteinosis (PAP) are filled with proteinaceous material, which has been analyzed extensively and determined to be normal surfactant composed of lipids and surfactant-associated proteins A, B, C, and D [emedicine.medscape.com]
Prevention
There are still no proven treatments, but earlier diagnosis may allow for evaluation of preventative strategies that could improve outcome. [ncbi.nlm.nih.gov]
To date, no treatment has been proven to effectively reverse or prevent the progression of PAM. [en.wikipedia.org]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]
NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications [doctor.am]
\" A low-phosphate diet was found to prevent stone development and to even reverse lung calcification. However low phosphate levels can cause other medical problems and this approach will need to be tested in clinical trials first. [oxygenworldwide.com]