Rare diseases of the thoracic cavity

Congenital pulmonary arteriovenous malformation (AVM)

The AVM is a malformed connection between the pulmonal-arterial and the pulmonal-venous system and is in most cases congenitally. In 70 to 90 percent of the cases the patients suffer also from a so-called hereditary hemorrhagic teleangiectasia (HHT Osler-Weber-Rendu disease).

Often epistaxis is due to the HHT an early symptom, years before the AVM is manifested. Exertional dyspnea is often present and not rarely this disease leads to hemoptysis.

Computer tomography is generally sufficient. MRI or perfusion scintigraphy can also help with the diagnosis. The classical angiography has its importance in particular because of the simultaneous therapy possibilities.

A therapy is required for all symptomatic and asymptomatic AVM of a certain size.
By means of angiographic procedures with coils or embolization multiple AVM can be treated sufficiently. Complex or large AVM or if the angiography is not expedient, the therapy is performed with resectioning procedures.

Congenital cystic adenomatoid malformation (CCAM)

A CCAM is a congenital hamartomatous lesion of the lung with excessive proliferation of the bronchial structures including alveoli. Depending on the size and participation of adenomatoid tissue different types are differentiated. Most CCAM are diagnosed prenatally and antenatally or treated in the newborn age. The therapy of choice is a resection of the affected lung area.

Pulmonary sequestration

The lung sequestra is a non-functioning lung tissue, which has no connection to the tracheobronchial tree. The lung sequestra receives its blood supply from an artery of the greater circulation. The intralobular sequestration is located in between healthy tissue and has no visceral pleura. Typically the artery is from the aorta. This type of sequester occurs more often in patients over 20 years. In most cases the intralobular lung sequestra is congenital, rarely it develops over time; as for example after recurring infections. The extralobular sequestra is always congenital and is most likely found in early childhood; in this case the abnormal tissue has its own visceral pleura. The arterial supply comes most likely also from aorta.

Often sequestras cause no symptoms and are diagnosed by coincidence. Cough, pleuritic pains, recurring pneumonias or hemoptysis can occur. The extralobular sequestra often occurs with other associated congenital anomalies, among others a diaphragmatic hernia and is diagnosed in newborn age accordingly.

The conventional X-ray imaging of the thorax and the computer tomography show a mass, in most cases it is localized in the lower lobes. CT often shows (not always") also the arterial inflow.

Generally the resection is recommended in cases of intralobular sequestra. In case of symptomatic illness with hemoptysis and recurring infections a surgery is the therapy of choice. Also asymptomatic patients should undergo a surgery for the prophylaxis of the mentioned symptoms.
The extralobular sequestra as incidental finding can preliminarily be monitored if no symptoms occur.


Bronchogenic cyst

The bronchogenic cyst consists usually of congenital abnormal tissue without connection to the actual lung. Histological muscle cells, cartilages and glands can be found. The cyst is in most cases localized in mediastinum, the lung hilus or even in the abdomen.

The patients present in all age groups. Depending on the compression of the surrounding structures dyspnea or dysphagia can be prevailing. Also infections might occur due to abnormal mucus production.

The conventional X-ray image shows in general already cystic structures and the computer tomography confirms the diagnosis.

The resection of the cyst is the therapy of choice. Often the surgery can be performed minimally invasive. br>


Congenital lobular emphysema

The congenital lobular emohysema describes the hyperinflation of a lung lobe. In this way the healthy rest of the lung is compressed or atelectatic. An insufficient cartilage growth of the affected bronchus lobaris might be the cause, why the respiratory passages are collapsing and the air remains trapped as in a valve mechanism.

The disease shows in most cases already in childhood with cough, cyanosis, tachypnea and a lack of growth. Often cardiac deformities are associated.
In young years the patients often present a pneumothorax.

The diagnosis is often made prenatally by means of ultrasound examination. Later primarily a computer tomography is performed after the conventional X-ray. A perfusion scintigraphy is rarely used for better diagnosis.

The therapy of choice is the resection, whereas in newborns often a lebectomy needs to be performed. Adolescents often need a partial resection in the sense of a lung volume reduction.

Rare pleural tumors

The most frequent pleural tumor is the malignant mesothelioma. Among the other malignant tumors metastases are often found, whereas the most come from lung cancer. Also sarcomas and lymphomas count to the malignant pleural tumors, but these are rare.
Benign pleural tumors consist most like of lipomas or the solitary fibrous pleural tumor. The latter exist in a benign and a malignant variant and are described below in more detail.

Solitary fibrous pleural tumor

Solitary fibrous pleural tumors (SFT) are relatively rare. There is no genetic predisposition and until now no connection with the risk factors asbestos, smoking or other environmental influences was found.

Solitärer fibröser Pleuratumor ohne Rand_Text Caviezel.jpg 

Intraoperative visualization of a solitary fibrous tumors at extraction

More than half of the tumors are asymptomatic. The symptomatic tumors often cause thoracic pain, dyspnea and chronic cough. Up to 22% of all SFT cause a hypertrophic osteoartropathy as paraneoplastic syndrome. Some patients have a so-called «clubbing» of the distal phalanges. Rarely hypoglycemia galactorrhea are described. These paraneoplastic syndromes disappear quickly after extraction of the tumor.

Conventional-radiological it is hard to differentiate the lesion from the lung tissue. Computer tomography is the examination of choice, but often only little additional information can be obtained. Pedunculated SFT show often a changing intrathoracic position in position changes of the patient. The density of the tumors is very heterogeneous and the larger lesions can also lack the indications of a pleural tumor.

The therapy is the resection in the healthy tissue, depending in the size either toracoscopic or via thoracotomy. 80% of SFT are benign. Most tumors originate in the visceral pleura and have a defined peduncle. Tumors which are growing into the lung or originate from the parietal pleura at mediastinum or diaphragm are often malignant.


Tracheal tumors

Squamous cell carcinomas and adenocystic carcinomas constitute the significant part of the malignant tracheal tumors. Also here applies that tobacco consumption is the risk factor number one. Benign tracheal tumors are rare and reach in their entity from fibromas over hemangiomas to chondromas.

Often patients present a prolonged cough. Sometimes the patient are already under treatment for asthma or a COPD.
Blood in the sputum is a frequent symptom. At increasing growth of the tumor a rhonchus and later stridor develop. Patients with these symptoms who don't respond to bronchodilators, require special care concerning further diagnosis.

Computer tomography usually shows the tracheal mass, the bronchoscopy shows the endoluminal finding and assures the histological diagnosis. It generally applies to exclude or rather diagnose other malignant diseases (pathologies of lung, thyroid, esophagus, from the throat, nose, ear region etc.).

Usually a primary surgery is pursued. Thereby the affected tracheal segment is resected and an end-to-end anastomosis is performed. In malignant processes often an adjuvant radiotherapy is recommended. For palliation of inoperable tumors a bronchoscopic laser application can often help to relieve the symptoms short- to medium-term. Also bronchoscopically inserted stents play an important role in palliative settings.


Tracheal stenosis

A tracheal stenosis is a benign stricture of the trachea. The cause might be a trauma, intubation or long-term ventilation or an inhalation injury. Also previous tracheal resections with anastomosis might be responsible. Also an idiopathic form of the tracheal stenosis exists. Also external reasons such as a struma, tumors of the mediastinum, infectious diseases such as tuberculosis or sarcoidosis or even a post-pneumonectomy syndrome have to be considered.

The symptoms are the same as with tracheal tumors. Also here a long anamnesis with chronic cough is present, depending on the size of the affected tracheal section rhonchus or stridor exist.

Whereas the computer tomography often already shows the narrowing and possible external reasons are excluded or confirmed, the bronchoscopy is essential for the diagnosis.

The therapy of choice is the primary resection with end-to-end anastomosis. Depending on the size and type of the stenosis also laser or stents can be used.


Esophagotracheal fistulas

The causes for esophagotracheal fistulas are iatrogenic (because of anastomosis insufficiency after esophagus resection, after laryngectomy, after esophagus stenting, after local radiotherapy etc.), infectious (in case of tuberculosis or after severe necrotising inflammations), malignant (direct infiltration by esophagus carcinoma, lung cancer or lymphoma), mechanical (prolonged ventilation, foreign bodies) or traumatic.

The symptoms are versatile and vary depending on the cause. In ventilated patients among others the massive increase of pulmonary secretion, increased pulmonary infiltrates or pneumonia up to overinflated abdomen and gastrointestinal content in the respiratory tract are impressing.
In non-ventilated patients coughing fits after eating, partially accompanied by coughed up food are attracting attention. Also here fever and other symptoms of a pneumonia can be the first signs. The clinical distinction between a fistula and an aspiration can often be difficult.

A conventional-radiological esophagus passage with contrast medium often shows the fistula. Computer tomography offers no real contribution for the diagnosis of a fistula, but is still an examination of choice for clarification and staging in suspected tumors. Endoscopically the fistulas are usually diagnosed. In particular bronchoscopies have proved their efficiency. A simultaneous esophagoscopy might be helpful.
Both procedures are additionally used for  tissue asservation in case of suspected malignity and also for germ asservation.

The therapy is fundamentally different depending on the type of the fistula and the underlying disease. In non-ventilated patients without malignant disease as cause of the fistula initially the correct nutrition and treatment of the pulmonary complications are focused on. In most cases an unilateral  surgeryis the therapy of choice. The fistula is resected, the defect is closed and secured with a transplant (e.g. muscle flaps).

An esophagotracheal fistula after intubation also often only needs one surgery, whereas her not rarely partial tracheal resections are necessary.
Traumatic fistulas are often accompanied by severe infections, which influence the management accordingly. Basically the indication of esophagostomy should be confirmed generously. Whereas in the case of postoperative fistulas after esophagus resections often a temporary esophagostemy is necessary, in cases of severe necrotising inflammations not rarely a complete esophagectomy is recommended.
In case of malignant diseases palliative stents are the therapy of choice, as a surgery is rarely expediently, due to the ppor prognosis of the underlying disease and the high mortality during surgeries.


Swyer-James syndrome

The Swyer-James-MacLeod syndrome describes a lung appearing hyper-lucent on X-ray images due to an obliteration of bronchioli, a destruction of lung tissue and death of vessels. Infections of the lungs, in particular caused by adenovirus, measles, pertussis and mycoplasma, are the causes therefore. Also a bronchiolitis in newborns can cause this tissue death.

Exertional dyspnea, chronic cough, hemoptysis and recurring infections are frequent.

The conventional X-ray image and the computer tomography show the hyper-lucent lung section. Usually one side is completely affected. The congenital lobular emphysema counts as an important differential diagnosis.

Medical measures such as bronchodilators and steroids and the treatment of any infections are the main focus besides an active pulmonary rehabilitation. The surgical resection is rarely performed, mainly as a treatment of possible complications. Depending on the findings a lung volume reduction surgery can take place.

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