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 .
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 .
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]
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]
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]
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]
,, 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]
Prognosis of these patients is variable and is influenced by the course of any underlying systemic disease [ 73 ]. [err.ersjournals.com]
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]
The DCLDs can be broadly classified according to underlying etiology as those caused by low-grade or high-grade metastasizing neoplasms, polyclonal or monoclonal lymphoproliferative disorders, infections, interstitial lung diseases, smoking, and congenital [ncbi.nlm.nih.gov]
The diverse range of possible etiologies can usually be differentiated based on the clinical setting and radiologic features. [scholars.northwestern.edu]
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]
Etiology Primary pulmonary disease where diffuse cysts are the predominant feature: pulmonary Langerhans cell histiocytosis : can be irregular in outline lymphocytic interstitial pneumonitis (LIP) lymphangioleiomyomatosis 3 with or without tuberous sclerosis [radiopaedia.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]
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]
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]. Available online at through . [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]
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]
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]
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]
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