Rare Lung Disease

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General Information

Rare Lung Disease Week

Multiple complex lymphatic anomalies exist that can include General Lymphatic Anomalies (GLA-formerly known as lymphangiomatosis) and Gorham-Stout Disease.  GLA generally occurs with multifocal lymphatic proliferation of dilated lymphatic vessels.  This can occur in multiple locations often including bone, liver, spleen, mediastinum, lungs and other soft tissues.  A patient’s particular presentation depends heavily on the location of the malformation/s.  Often, GLA presents in infants/children but has also been reported in adults.

Gorham-Stout disease (GSD) is diagnosed when this lymphatic proliferation occurs within one or multiple bones.  This ultimately results in bony destruction of the affected site.  These bones can include the ribs, cranium, clavicle, limbs, pelvis and cervical spine.  Additionally, with GSD, other internal organs aside from bones can be involved.  While there is significant overlap between GLA and GSD, some studies have suggested patterns of bony involvement that are specific to GLA versus GSD.

The clinical presentation of these disorders will depend on the location of the lymphatic proliferation as noted above.  Thoracic lesions will generally result in symptoms including cough, shortness of breath and wheezing.  Often, these patients are misdiagnosed with asthma for a period of time and may not be diagnosed with their lymphatic malformation until late in the course. Fluid accumulations in the pleural, pericardial, abdominal and mediastinal cavities are not uncommon.

Therapy for these conditions has varied greatly over the years.  Treatments have included surgery, radiotherapy and various forms of medical therapy such as corticosteroids, interferon-alpha, propranolol and bisphosphonates.  Surgical resection can help to debulk lesions but generally does not result in cure.  Newer therapies have included mTOR inhibitors (rapamycin), tyrosine kinese inhibitors (sunitinib and sorafenib) and taxol.  Case reports have described success in individual patients with these therapies.

As is evident, GLA and GSD are complex diseases with extremely variable presentations in multiple individuals.  For these reasons, it is beneficial, when possible, for patients to be evaluated by an experienced vascular anomaly center. These centers have both the medical and surgical experience to devise the optimal treatment plan for each individual patient.  The Lymphangiomatosis and Gorham’s Disease Alliance (LGDA) can be extremely helpful in connecting individual patients with these centers.

References


Four Facts About Lymphangiomatosis & Gorham's Disease

  1. Lymphangiomatosis, recently classified as generalized lymphatic anomaly (GLA), and Gorham-Stout disease (GSD) are thought to be a spectrum of disease, one aspect of which may affect the lungs and other organs of the thorax.  Another related complex lymphatic anomaly that has features of GLA and GSD, along with hemorrhagic effusions, called Kaposiform lymphangiomatosis (KLA), was described in 2014.

  2. Pulmonary disease in GLA, GSD, and KLA is often most aggressive in younger patients and is separate and distinct from lymphangiectasia, lymphangioleiomyomatosis (LAM), pulmonary capillary hemangiomatosis, Kaposi’s sarcoma, and kaposiform hemangioendothelioma.

  3. GLA, GSD, or KLA affecting the lung may be misdiagnosed as asthma, and can be confused with lymphangiolieomyomatosis (LAM). 

  4. Thoracic disease in GLA, GSD, or KLA may cause chylothorax, chylopericardium, or interstitial disease that result in chronic respiratory failure.