Cystic lung disease is an uncommon phenomenon that is seen in various conditions of autoimmune, genetic, neoplastic, and inflammatory origin. As a result, its signs and symptoms may considerably vary. Imaging studies mainly computed tomography, is the gold standard for diagnosis. Biopsy and subsequent histopathological evaluation, are also required to determine the underlying cause of the condition.
The clinical presentation of patients who develop cystic lung disease is diverse since numerous conditions have been described as potential causes. The following disorders should be noted     :
- Pulmonary Langerhans cell histiocytosis (PLCH) - Primarily diagnosed in younger adults who are smokers, PLCH is caused by peribronchial infiltration of Langerhans dendritic cells and subsequent formation of cavitating nodules that turn into cysts . Symptoms may be absent in up to 25% of patients, but a dry cough, dyspnea on exertion, fever, weight loss and night sweats are most important complaints . Chest pain, occurring due to a spontaneous pneumothorax, is an important diagnostic hallmark of PLCH, whereas extrapulmonary manifestations (diabetes insipidus presenting as polyuria and polydipsia, as well as bone and skin lesions) are rare .
- Lymphangioleiomyomatosis (LAM) - Dyspnea, recurrent pneumothoraces, and hemoptysis are the main symptoms of this disease characterized by infiltration of smooth muscle cells into the bronchial tree and the nodal systems of the thorax and abdomen . LAM is seen exclusively in women of childbearing age .
- Lymphoid interstitial pneumonia (LIP) - A benign lymphoproliferative disease affecting middle-aged women is also one of the causes of cystic lung disease, and its association with Sjögren syndrome, acquired immunodeficiency syndrome (AIDS), Castleman disease, systemic lupus erythematosus (SLE) as several other autoimmune diseases is well-established  . Dyspnea, cough, fever, weight loss and recurrent pneumothoraces are important clinical features .
- Pulmonary infections - Echinococcosis granulosus (alveolar hydatid disease), pneumocystis jirovecii pneumonia (PCP), and coccidiomycosis are important infectious causes of cystic lung disease  . PCP is an acquired immunodeficiency syndrome (AIDS)-defining illness and often presents with rapidly deteriorating respiratory failure in the absence of appropriate therapy.
- Light-chain deposition disease - Most frequently identified in patients who suffer from multiple myeloma, B-cell lymphoma or Waldenström macroglobulinemia, accumulation of immunoglobulin light chain in the lungs rarely causes symptoms, but can be responsible for respiratory failure and the need for lung transplantation in some cases .
- Birt-Hogg-Dubé syndrome (Folliculin gene-associated syndrome) - Distinguished by the presence of facial papules (known as fibrofolliculomas), acrochordae (skin tags) on the thorax and the head and neck region, colonic polyps, renal tumors, and thin-walled cysts, this autosomal-dominant genetic disease most frequently presents with a spontaneous pneumothorax .
- Metastatic disease - Sarcomas, mesenchymal tumors, and adenocarcinomas can present with cystic lung disease .
Entire Body System
Three years after treatment of the lymphoma, asymptomatic progression of the Sjögren 's syndrome was observed with pulmonary involvement--predominantly bullous or cystic lung disease. [ncbi.nlm.nih.gov]
Patients with cystic lung disease may be asymptomatic or present with nonspecific symptoms, such as chronic cough or shortness of breath. They are at increased risk for spontaneous pneumothorax. [panafrican-med-journal.com]
[…] in which case it is considered (thin), but cysts of greater thickness (more than 4 mm) may be a useful diagnostic feature, and together with the distribution, number, and size, as well as presence of other lung pathologies (nodules, pleural effusion, lymphadenopathy [symptoma.com]
Lymphangioleiomyomatosis (LAM) HRCT Morphology Thin-walled cysts (2mm - 5cm) Uniform in size / rarely confluent Homogeneous distribution Chylous pleural effusion Lymphadenopathy in young women 9. Lymphangioleiomyomatosis (LAM) 10. [slideshare.net]
Other CT findings include interlobular septal thickening, honeycombing, ground-glass opacities, circumferential thickening of the tracheal wall and lymphadenopathy [ 84, 87 ]. [err.ersjournals.com]
Hilar lymphadenopathy is visible in 50% and usually there is a history of malignancy. [radiologyassistant.nl]
Hilar and mediastinal lymphadenopathy may occur. Additional imaging findings include widening of the pulmonary artery due to increased pressure. [jbsr.be]
They may also present with manifestations of lymphatic obstruction, including chylothorax, chylous ascites, and chyluria. Symptoms are thought to worsen during pregnancy. [merckmanuals.com]
If muscle cells migrate to areas outside the lungs, LAM can cause other symptoms: Chylous ascites: The flow of lymph is blocked by errant muscle cells. Chyle (milky lymph fluid) builds up in the belly. [webmd.com]
It may demonstrate evidence of hydrops - eg, ascites or pleural effusions. Type I lesions appear as multiple large cystic areas in the lung. Type II lesions appear as multiple small cysts. [patient.info]
Occlusion of lymphatics by LAM cells can lead to chylous pleural effusions or chylous ascites. In patients with advanced pulmonary disease hypoxaemia may develop. Pulmonary hypertension secondary to hypoxaemia is usually mild. [thoracickey.com]
Individuals with CF become vulnerable to bacterial lung infections when there is a build-up of mucus in the lungs, which causes inflammation and swelling. [medicalnewstoday.com]
[…] in drawing air into your lungs or breathing out A cough lasting more than a month, regardless of your age Chronic mucus or sputum production lasting a month or more Wheezing or noisy breathing due to blockage of airways of the lungs Coughing up blood Swelling [johnmuirhealth.com]
The air sacs in the lung also swell and form small pockets called cysts. As the cysts develop throughout the lungs, LAM causes breathing problems similar to emphysema. [webmd.com]
- Recurrent Infection
Recurrent infection: children in whom the CCAM has not been resected are at risk of recurrent pulmonary infections due to bronchial compression, air trapping and inability to clear secretions. [patient.info]
Recurrent infections, especially Pneumocystis jiroveci, have been associated with emphysematous changes and bronchiectasis in patients with HIV infection [ 2 ]. [jmedicalcasereports.com]
Recurrent skin abscesses and pneumonia result mainly from Staphylococcus aureus infection. [thoracickey.com]
CONCLUSIONS: A history of recurrent pneumonia, often with hemoptysis and subsequent dyspnea, should raise the suspicion of CCLD. [ncbi.nlm.nih.gov]
They may be completely asymptomatic, when they develop symptoms; the most common is hemoptysis due to affection of vessels [ 19, 20 ]. [jbsr.be]
Lymphangioleiomyomatosis (LAM) - Dyspnea, recurrent pneumothoraces, and hemoptysis are the main symptoms of this disease characterized by infiltration of smooth muscle cells into the bronchial tree and the nodal systems of the thorax and abdomen. [symptoma.com]
Symptoms are dyspnea, cough, chest pain, and hemoptysis; spontaneous pneumothorax is common. Diagnosis is suspected on the basis of symptoms and chest x-ray findings and is confirmed by high-resolution CT. [merckmanuals.com]
Coughing up blood (hemoptysis). Over time, cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood. Pneumothorax. [mayoclinic.org]
Sputum smear examination was negative for acid fast stain, gram stain showed epithelial cells, polynuclear cells, yeast buds, and Candida albicans growth in sputum culture. Amoxicillin, quinine, fluconazole and multivitamin were prescribed. [jmedicalcasereports.com]
In terms of secondary outcomes of the review ( pulmonary exacerbations, hospitalisations, symptoms, sputum microbiology), evidence provided by the included studies was more limited. [cochrane.org]
Is it coughing up mucus when you don’t have a sputum cup nearby? (I’ll let you fill in the unappetizing blanks on that one.) [cysticfibrosisnewstoday.com]
[…] breath after little or no exertion, or that persists after brief rest following normal exercise Labored breathing; difficulty in drawing air into your lungs or breathing out A cough lasting more than a month, regardless of your age Chronic mucus or sputum [johnmuirhealth.com]
This can cause signs and symptoms such as: A persistent cough that produces thick mucus (sputum) Wheezing Breathlessness Exercise intolerance Repeated lung infections Inflamed nasal passages or a stuffy nose Digestive signs and symptoms The thick mucus [mayoclinic.org]
This review will focus on advancements and current practice in the diagnosis and management of CPAM and BPS, identifying aspects of the literature that are confusing or controversial. [ncbi.nlm.nih.gov]
Pitfalls Emphysematous changes present pitfalls that can lead to confusion about cysts. In contrast to true cysts, however, cyst-like lucencies caused by the destruction of lung parenchyma in emphysema do not have walls [ 108 ]. [err.ersjournals.com]
The diagnosis of cystic lung disease solely relies on imaging studies, and high-resolution computed tomography (HRCT) is considered to be the gold standard    . Observation of a circular, circumscribed space lined by an epithelial or fibrous layer of variable thickness is diagnostic of a cyst, and in most cases, it contains air, but fluid may be located in the parenchyma as well . Thickness of the cyst wall is around 2 mm, in which case it is considered (thin), but cysts of greater thickness (more than 4 mm) may be a useful diagnostic feature, and together with the distribution, number, and size, as well as presence of other lung pathologies (nodules, pleural effusion, lymphadenopathy, pneumothorax) and extrapulmonary symptoms, are criteria used to make a presumptive diagnosis  . For e.g. multiple, thin-walled and diffusely distributed cysts are typical of LAM, whereas a combination of nodules and cysts (that appear in the later stages of the disease) in the upper lobes are characteristic for PLCH . On the other hand, up to 100 cysts of variable sizes and shapes are diagnostic for Birt-Hogg-Dubé syndrome . In addition to imaging studies, biopsy of the cyst (usually through bronchoscopy) and subsequent histopathological examination is often necessary to confirm the findings from CT, and thus confirm the etiology of cystic lesions .
(signet-ring sign) bronchial wall thickening lack of normal tapering with visibility of airways in the peripheral lung mucus retention in the broncial lumen associated atelectasis and sometimes air trapping 53. [slideshare.net]
It characteristically presents with the findings of central bronchiectasis, mucoid impaction and atelectasis. Honeycombing Honeycombing is defined by the presence of small cystic spaces with irregularly thickened walls composed of fibrous tissue. [radiologyassistant.nl]
In bronchiectasis, findings may be nonspecific and include focal pneumonitis, scattered irregular opacities, linear or plate-like atelectasis, or specifically dilated and thickened airways that appear as ring-like shadows or tram lines [ 4 ]. [jmedicalcasereports.com]
Duration of treatment in the included studies ranged from 12 days to six months, with open-label treatment for an additional six months in two of the studies. [cochrane.org]
This doctor would be equipped to detect and diagnose your specific condition so you can get the treatment you need. Many treatments for many conditions For cystic lung diseases, there’s no one-size-fits-all approach. [health.clevelandclinic.org]
Learn more Diagnosing and Treating Cystic Fibrosis In the last 2 decades, there have been many advances in the treatment of CF. [lung.org]
The diagnosis and treatment of pneumothorax in patients with complex cystic lung disease may be difficult when relying on plain chest radiography alone. [ncbi.nlm.nih.gov]
However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Our knowledge on these two rare conditions is rapidly expanding. [ncbi.nlm.nih.gov]
Prognosis CCAM is a rare fetal lung disease with an excellent prognosis in the absence of fetal hydrops. Resection of the CCAM generally leads to full recovery. [patient.info]
Prognosis of lymphangioleiomyomatosis is unclear because the disorder is so rare and because the clinical course of patients with LAM is variable. [merckmanuals.com]
USA., ,, Source Chest 132:2 2007 Aug pg 679-84 MeSH Biopsy Cystic Fibrosis DNA Diagnosis, Differential Disease Progression Female Follow-Up Studies Forced Expiratory Volume Hamartoma Syndrome, Multiple Humans Male Middle Aged Mutation Plethysmography Prognosis [unboundmedicine.com]
Unique imaging features, genetic tests, serum studies, and clinical features provide invaluable clues that help clinicians distinguish among the various etiologies, but biopsy is often required for definitive diagnosis. [ncbi.nlm.nih.gov]
It is important to distinguish cysts from cavities because they each have distinct etiologies and associated clinical disorders. Conditions such as emphysema, and cystic bronchiectasis may also mimic cystic disease. [mayoclinic.pure.elsevier.com]
The diverse range of possible etiologies can usually be differentiated based on the clinical setting and radiologic features. [scholars.northwestern.edu]
Evidence of an autoimmune etiology includes its frequent association with Sjögren syndrome (25% of cases of LIP) and other disorders (eg, SLE, RA, Hashimoto thyroiditis —14% of cases). [msdmanuals.com]
The Epidemiology of LAM Lymphangioleiomyomatosis is a rare disease that occurs almost exclusively in women. It is estimated that for every million women, three - five will have LAM. [thelamfoundation.org]
No other epidemiological factor associated with PLCH has been identified [ 46 ], and no genetic risk factor for PLCH development has been recognised [ 7 ]. [err.ersjournals.com]
Epidemiology No data are available regarding the frequency of this lesion but it is a rare condition. [patient.info]
Cancer Epidemiology, Biomarkers & Prevention. doi: 10.1158/1055-9965.EPI-08-0422. Fonti utilizzate nelle precedenti revisioni (2006 November). Cystic Fibrosis Fact Sheet. American Lung Association [On-line information]. [labtestsonline.it]
Recurrent chest infections may be a feature later in life.  A risk of malignant transformation in later years is noted.  Prenatal regression and complete prenatal resolution have also been described. [6, 7, 8] Epidemiology Frequency United States [emedicine.medscape.com]
Birt-Hogg-Dubé syndrome has been described more recently and still awaits deeper understanding of its pathophysiology. © 2017 S. Karger AG, Basel. [ncbi.nlm.nih.gov]
In this article, we also classify pulmonary cystic disease with an emphasis on the pathophysiology behind cyst formation in an attempt to elucidate the characteristics of similar cystic appearances seen in various disease entities. [scholars.northwestern.edu]
Pathophysiology The pathophysiologic effects of CCAM may be divided into prenatal and postnatal effects. Large lesions may be associated with the development of hydrops fetalis in as many as 40% cases and is a poor prognostic sign. [emedicine.medscape.com]
Surgeons remove the affected lobe to prevent further damage to the lung. Most doctors recommend waiting until your child is between 6 months and 1 year old before surgery. [childrens.com]
Surgical treatment of multiple cystic lung disease plays a crucial role in the prevention of pneumothorax. Figure 1: multiple cystic lung disease. [panafrican-med-journal.com]
A previous report indicated that researchers were able to prevent cystic fibrosis lung disease in a mouse model by spraying amiloride into the animal's lungs. [medicalnewstoday.com]
To date, no treatment has been proven to effectively reverse or prevent the progression of PAM. [rarediseasesnetwork.org]
Management of cystic lung disease with HFOV in our patient required a modified low volume strategy where HFOV was delivered with low mean airway pressure of 8 cm H 2 O for a prolonged duration to prevent air leak syndrome. [rc.rcjournal.com]
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