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Diffuse Pulmonary Lymphangiomatosis

Last updated Aug. 29, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Diffuse Pulmonary Lymphangiomatosis (DPL) is a rare and aggressive condition of the lungs observed at birth (congenital presentation) or during childhood.

What are the other Names for this Condition? (Also known as/Symptoms)

  • DPL (Diffuse Pulmonary Lymphangiomatosis)
  • Lymphangiomatosis of Lung
  • Pulmonary Lymphatic Dysplasia

What is Diffuse Pulmonary Lymphangiomatosis? (Definition/Background Information)

  • Diffuse Pulmonary Lymphangiomatosis (DPL) is a rare and aggressive condition of the lungs observed at birth (congenital presentation) or during childhood
  • In this condition, an abnormal overgrowth of lymphatic blood vessels are observed along the lymphatic system of the mediastinal and pulmonary region (involving the lungs and pleura)
  • The cause of development of Diffuse Pulmonary Lymphangiomatosis is unknown, and presently, no risk factors have been established
  • Diffuse Pulmonary Lymphangiomatosis is often present as an abnormal thickening of the bronchial or pleural walls along the lymphatic vessels. It can cause severe respiratory symptoms and respiratory failure
  • There is no established treatment for Diffuse Pulmonary Lymphangiomatosis and the prognosis of the condition is typically poor; death often results from severe breathing difficulties

Who gets Diffuse Pulmonary Lymphangiomatosis? (Age and Sex Distribution)

  • Diffuse Pulmonary Lymphangiomatosis is a rare condition that is seen to primarily affect newborn children
  • It may be diagnosed after birth or into childhood. In rare cases, adults have also been diagnosed with this condition
  • Both males and females are affected in equal numbers
  • No specific racial or ethnic group predilection is noted

What are the Risk Factors for Diffuse Pulmonary Lymphangiomatosis? (Predisposing Factors)

  • Currently, no risk factors have been identified for Diffuse Pulmonary Lymphangiomatosis
  • In some cases, the condition is associated with Gorham’s disease

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Diffuse Pulmonary Lymphangiomatosis? (Etiology)

The cause of development of Diffuse Pulmonary Lymphangiomatosis is generally unknown.

What are the Signs and Symptoms of Diffuse Pulmonary Lymphangiomatosis?

The signs and symptoms of Diffuse Pulmonary Lymphangiomatosis, which is a progressive disorder, may be mild or severe and can include the following:

  • Imaging studies may show thickened pleural walls and lung airways (bronchioles). The condition is not identified as a tumor mass, cyst, or a nodular bundle
  • In most cases, the mediastinum (chest cavity) is involved; but the lungs and pleura are always affected
  • Children may present the following aggressive signs and symptoms:
    • Severe respiratory system associated symptoms
    • Respiratory failure
  • Adults may present the following ‘milder’ signs and symptoms:
    • Cough without sputum
    • Wheezing
    • Respiratory failure
  • Pleural effusion or fluid in the chest that may be recurrent and consisting of chyle (milk-white lymphatic fluid)
  • The condition can be associated with lymphangiomatosis at other body parts, resulting in varying signs and symptoms

How is Diffuse Pulmonary Lymphangiomatosis Diagnosed?

There are a variety of tests the healthcare provider may employ to diagnose Diffuse Pulmonary Lymphangiomatosis, which may include:

  • Physical examination and complete medical history screening: During the physical exam, the healthcare provider may listen to the lung  with a stethoscope, to detect the presence of any abnormal lung sounds
  • Imaging studies that may include a chest X-ray, MRI or CT scan of the lungs
  • Arterial blood gases
  • Lung function test
  • Sputum cytology: This procedure involves the collection of mucus (sputum), coughed-up by the patient, which is then examined in a laboratory by a pathologist
  • Prenatal ultrasound scan

A tissue biopsy refers to a medical procedure that involves the removal of cells or tissues, which are then examined by a pathologist. This can help establish a definitive diagnosis. The different biopsy procedures may include: 

  • Bronchoscopy: During bronchoscopy, a special medical instrument called a bronchoscope is inserted through the nose and into the lungs to collect small tissue samples. These samples are then examined by a pathologist, after the tissues are processed, in an anatomic pathology laboratory
  • Thoracoscopy: During thoracoscopy, a surgical scalpel is used to make very tiny incisions into the chest wall. A medical instrument called a thoracoscope is then inserted into the chest, in order to examine and remove tissue from the chest wall, which are then examined further
  • Thoracotomy: Thoracotomy is a surgical invasive procedure with special medical instruments to open-up the chest. This allows a physician to remove tissue from the chest wall or the surrounding lymph nodes of the lungs. A pathologist will then examine these samples under a microscope after processing the tissue in a laboratory
  • Fine needle aspiration biopsy (FNAB): During fine needle aspiration biopsy, a device called a cannula is used to extract tissue or fluid from the lungs, or surrounding lymph nodes. These are then examined in an anatomic pathology laboratory, in order to determine any signs of abnormality. Nevertheless, FNAB is not a preferred method for the biopsy of lung tumors
  • Autofluorescence bronchoscopy: It is a bronchoscopic procedure in which a bronchoscope is inserted through the nose and into the lungs and measure light from abnormal precancerous tissue. Samples are collected for further examination by a pathologist

Tissue biopsy from the affected lung:

  • A biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, flow cytometric analysis and very rarely, electron microscopic studies, to assist in the diagnosis

Note: The diagnosis of DPL is usually based on the clinical signs and symptoms and assessment by the healthcare provider. A tissue may be performed to confirm the diagnosis.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Diffuse Pulmonary Lymphangiomatosis?

The complications of Diffuse Pulmonary Lymphangiomatosis may include the following:

  • In general, lymphangiomatosis can affect any part of the body
  • Severe breathing difficulties leading to respiratory failure resulting in death
  • Severe chest pain
  • Frequent lung infections

How is Diffuse Pulmonary Lymphangiomatosis Treated?

  • The treatment of Diffuse Pulmonary Lymphangiomatosis is often symptomatic
  • Breathing assistance may be provided for severe conditions
  • Presently, there is no treatment to completely cure the condition

How can Diffuse Pulmonary Lymphangiomatosis be Prevented?

Currently, there are no known methods to prevent the development of Diffuse Pulmonary Lymphangiomatosis.

What is the Prognosis of Diffuse Pulmonary Lymphangiomatosis? (Outcome/Resolutions)

  • The prognosis of Diffuse Pulmonary Lymphangiomatosis is generally poor despite symptomatic treatment
  • Children are affected more severely than adults; the disease course is progressive and aggressive

Additional and Relevant Useful Information for Diffuse Pulmonary Lymphangiomatosis:

Diffuse Pulmonary Lymphangiomatosis should not be confused with lymphangioleiomyomatosis (LAM) lung disease. LAM is predominantly-to-exclusively seen in females (mostly adult women), whereas DPL is seen in both males and females.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 1, 2017
Last updated: Aug. 29, 2018