Lymphangioleiomyomatosis Imaging and Diagnosis 

Updated: Jan 04, 2021
  • Author: Ali Islam, MD; Chief Editor: Eugene C Lin, MD  more...
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Practice Essentials

Lymphangioleiomyomatosis (LAM) is a rare idiopathic disease that affects women and is characterized by nonneoplastic peribronchial, perivascular, and perilymphatic proliferation of atypical smooth muscle resulting in vascular and airway obstruction, cyst formation, and a progressive decline in lung function. In the World Health Organization (WHO classification), [1] LAM was classified as 1 of 3 forms of PEComataous tumor (arising from perivascular epithelioid cells), along with benign PEComas (including clear cell tumor) and malignant PEComas. Although historically LAM has been considered an interstitial lung disease, it is now considered to be a low-grade destructive metastasizing neoplasm. Typical radiographic findings of reticular interstitial lung disease, recurrent pneumothoraces, and recurrent chylous effusions have been described. [2, 3, 4, 5, 6, 7]

There are 2 main types of LAM: sporadic and that associated with the tuberous sclerosis complex (TSC), which is caused by TSC1 and TSC2 mutations. Because dyspnea is a common finding in a number of respiratory conditions, LAM is often initially diagnosed as asthma, emphysema, or chronic obstructive pulmonary disease (COPD). [8]

A high index of clinical suspicion for lymphangioleiomyomatosis should be maintained in women of childbearing age who present with recurrent pneumothoraces, when chylous effusion or an interstitial pattern on chest radiograph is not identified.

(See the image below.)

Lymphangioleiomyomatosis. Subtle interstitial reti Lymphangioleiomyomatosis. Subtle interstitial reticular pattern in a female patient with slightly increased lung volumes.

An association with renal angiomyolipomas is observed in as many as 50% of patients. The disease may occur sporadically or as part of the tuberous sclerosis complex (TSC), which includes mental retardation, seizures, and skin abnormalities. [2] However, less than 5% of patients with TSC have pulmonary disease. When pulmonary features of LAM are identified in males, a diagnosis of TSC should be considered. [9, 3, 10, 11, 12]

(Angiomyolipomas are shown in the images below.)

Lymphangioleiomyomatosis. Sagittal view of left ki Lymphangioleiomyomatosis. Sagittal view of left kidney showing large fat-containing angiomyolipoma (arrows) arising from lower pole.
Lymphangioleiomyomatosis. Large angiomyolipoma of Lymphangioleiomyomatosis. Large angiomyolipoma of left kidney with recent hemorrhage.

Imaging modalities

When there is clinical suspicion of lymphangioleiomyomatosis, it has been diagnosed on the basis of compatible chest radiographs, pulmonary function tests (PFTs), and computed tomography (CT) findings. CT scanning is the most specific imaging test for diagnosing LAM. [13, 14, 15]  Chest radiography and PFT findings, while suggestive of LAM, can be nonspecific and may be normal despite the presence of symptoms. Plain radiography may not detect the thin-walled cysts identified on CT and may underestimate the extent of the disease. PFT results vary depending on the extent of disease. CT scanning, especially high-resolution CT (HRCT), may reveal distinct findings that obviate the need for biopsy; however, diseases such as emphysema occasionally must be excluded. CT detection of a renal angiomyolipoma or chylous ascites further supports the diagnosis. [8, 16, 17, 18, 19, 20]

In most patients with LAM, aerosol ventilation-perfusion scintigraphy reveals a speckled pattern of uptake on ventilation images. This appears distinct from the central clumping seen with poor aerosolization. The speckled pattern is believed to result from focal areas of activity on cyst walls by adherent aerosolized particles. The extent of the speckling seems to correlate to disease extent as determined by chest radiographs, PFTs, and CT scans. [13]  Specificity is unknown, although it is possible that a severe pattern of speckling is specific for LAM. Other lung diseases that produce cysts also may produce a speckled pattern.

Ultrasonography has not been proven useful for the diagnosis of LAM or of any other interstitial lung disease. [14]

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Radiography

An initial radiograph is abnormal in more than 95% of patients with lymphangioleiomyomatosis. A symmetrical, diffuse, reticular interstitial pattern (shown in the image below), caused by summation of multiple cyst walls, is typical.

If Kerley B lines are present, they may be the result of interstitial edema related to lymphatic obstruction. Multiple cysts become visible as they enlarge. Occasionally, patients may present with pneumothorax or chylous pleural effusion.

LAM is one of the few interstitial diseases in which lung volumes are maintained or increased. Cystic fibrosis and Langerhans cell histiocytosis (eosinophilic granuloma) share this feature.

A high index of clinical suspicion for lymphangioleiomyomatosis (LAM) should be maintained in women of childbearing age who present with recurrent pneumothoraces, when chylous effusion or an interstitial pattern on chest radiograph is not identified.

Large lung volumes and interstitial disease on plain film also can be seen with Langerhans cell histiocytosis, sarcoidosis, and extrinsic allergic alveolitis. Occasionally, emphysema presents with a similar pattern as a result of summation of widespread small bullae.

Lymphangioleiomyomatosis. Subtle interstitial reti Lymphangioleiomyomatosis. Subtle interstitial reticular pattern in a female patient with slightly increased lung volumes.

 

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Computed Tomography

Initial CT scan findings are almost always abnormal despite a normal chest radiograph.

The typical appearance of LAM on HRCT is of thin-walled, air-containing cysts ranging from 2 to 50 mm in a diffuse symmetrical pattern. The cyst walls range from 2 mm to an almost imperceptible thickness, and the cysts usually are round, but they may be polygonal. Intervening lung tissue appears normal.

(LAM cysts are shown in the image below.)

Lymphangioleiomyomatosis. A high-resolution CT in Lymphangioleiomyomatosis. A high-resolution CT in a female patient showing numerous well-defined, thin-walled cysts evenly distributed throughout both lungs.

CT scanning also may reveal lymphadenopathy, small pneumothoraces, alveolar hemorrhages, and septal lines. Ground-glass opacity, if seen, may result from hemosiderosis or proliferation of smooth muscle.

CT scan of the abdomen may detect lymphadenopathy or renal angiomyolipoma. The kidneys should be included in the initial imaging if LAM or tuberous sclerosis complex (TSC) is suggested.

In Langerhans cell histiocytosis and in neurofibromatosis, cysts are seen predominantly in the upper lung zones. In addition, most patients with Langerhans cell histiocytosis have small pulmonary nodules initially, and cyst walls are not entirely uniform.

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