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Congenital Lymphangiectasia

Last updated Aug. 14, 2018

Approved by: Maulik P. Purohit MD, MPH

Congenital Lymphangiectasia may be associated with genetic disorders. It can affect any part of the body and may be localized, or it may appear diffused (widespread across the body).

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

  • Congenital Lymphangiectases
  • Primary Lymphangiectasia

What is Congenital Lymphangiectasia? (Definition/Background Information)

  • Lymphangiectasia is referred to as an abnormal dilatation of the lymphatic blood vessels. The condition may be congenital or acquired
  • Congenital Lymphangiectasia may be associated with genetic disorders. It can affect any part of the body and may be localized, or it may appear diffused (widespread across the body)
  • The signs and symptoms and complications of Congenital Lymphangiectasia depend upon a variety of factors, including if it is localized or diffused
  • Generally, not all individuals with congenital forms may need treatment. Also, it is easier to treat localized type than generalized type of lymphangiectasia
  • The treatment of the condition may involve symptomatic and systemic treatment depending on the sites involved. The prognosis of Congenital Lymphangiectasia is based on several factors and is normally evaluated on a case-by-case basis

Who gets Congenital Lymphangiectasia? (Age and Sex Distribution)

  • Congenital Lymphangiectasia is a rare disorder that may be manifested at birth; it may affect newborn babies, infants, and young children
  • Both males and females are affected and no gender preference is generally observed
  • All racial and ethnic groups may be affected and no predilection is seen

What are the Risk Factors for Congenital Lymphangiectasia? (Predisposing Factors)

  • The risk factor for Congenital Lymphangiectasia is the formation of an abnormal lymphatic system during fetal development 

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 Congenital Lymphangiectasia? (Etiology)

  • Lymphangiectasia is a disorder wherein the lymphatic vessels are enlarged or dilated
  • Primary Lymphangiectasia, also known as Congenital Lymphangiectasia, is present from birth. It is caused by abnormal formation of lymphatic vessels, during fetal growth and development

What are the Signs and Symptoms of Congenital Lymphangiectasia?

The signs and symptoms of Congenital Lymphangiectasia depend upon whether it is diffused or localized, and location of the condition or the organ that is involved. It may be varied and may include the following:

  • Skin signs and symptoms that include:
    • The presence of skin lesions that may be fluid-filled or bright red in appearance
    • When subjected to minor trauma, the tiny skin papules tend to bleed or ooze a clear or milky fluid; the skin condition can be painful
    • Thickening of skin due to lymph accumulation may take place
  • Chronic diarrhea that can result in weight loss
  • Associated bone lesions
  • Pleural effusion
  • Ascites (fluid buildup in the abdominal cavity)
  • Soft tissue edema; in some cases, generalized edema all over the body may be observed (trunk and limbs)
  • The sites involved may include the lungs and mediastinum (chest/thoracic cavity), intestine, liver and spleen, etc.
  • Signs and symptoms of the associated syndrome may be observed

How is Congenital Lymphangiectasia Diagnosed?

A diagnosis of Congenital Lymphangiectasia may involve the following tests and exams:

  • A thorough physical exam with evaluation of complete family medical history
  • Blood tests including lipid profile, cholesterol levels, serum protein, etc.
  • Radiological imaging studies of the affected region to study the dilated lymphatic vessels
  • Genetic tests and analysis to confirm certain congenital forms of lymphangiectasia
  • Angiographic studies such as lymphangiograms of the affected regions
  • Upper GI endoscopy for individuals with gastrointestinal symptoms
  • Tissue biopsy of the affected region: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The 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

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 Congenital Lymphangiectasia?

The complications due to Congenital Lymphangiectasia depend upon the location of the condition, the organs involved, and if the condition is specific to a location, or is widespread in the region/body. Sometimes, the complications can be severe and may include the following:

  • Malnutrition, if the gastrointestinal tract is affected and it leads to chronic diarrhea. The condition is generally known as intestinal lymphangiectasia
  • If the lungs are involved, it can cause severe breathlessness and respiratory distress (particularly in newborn babies). In newborn children, the condition is known as congenital pulmonary lymphangiectasia

How is Congenital Lymphangiectasia Treated?

The treatment of lymphangiectasia depends upon a variety of factors that include the following:

  • The underlying cause of the condition
  • The location of lymphangiectasia; sites of involvement
  • Severity of the signs and symptoms
  • Age of the individual (child or adult)

The following treatment measures may be considered for Congenital Lymphangiectasia:

  • Surgical removal of the dilated lymphatic vessels for localized lymphangiectasia
  • Sclerotherapy to inject medications into the tumor may cause them to collapse. If this is successful, then a surgery can be avoided
  • Laser surgical excision
  • Cryotherapy, where liquid nitrogen is used to freeze the skin lesion. This results in the formation of a blister on the skin, which then sloughs-off as the blister heals
  • Treatment of superimposed infections
  • Symptomatic treatment depending on the region/organ that is affected
  • Individuals with diarrhea may be recommended a low-fat high protein diet
  • Treatment of vitamin deficiencies
  • In case of generalized lymphangiectasia, it may be difficult to treat the patient

Follow-up care with regular screening and check-ups are important, to watch-out for any relapses.

How can Congenital Lymphangiectasia be Prevented?

Current medical research has not established a method of preventing Congenital Lymphangiectasia.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Congenital Lymphangiectasia

What is the Prognosis of Congenital Lymphangiectasia? (Outcomes/Resolutions)

  • The prognosis of Congenital Lymphangiectasia depends upon a variety of factors including on the underlying cause, location of the condition, and severity of the signs and symptoms
  • It is difficult to establish a prognosis, but the condition may be assessed on a case-by-case basis
    • Also, localized forms may have better outcomes than generalized forms
    • Lymphangiectasia that responds to treatment have better outcomes than those that do not respond well to treatment
  • Generalized forms of Congenital Lymphangiectasia, especially congenital pulmonary lymphangiectasia, has a poor prognosis in newborn children due to severe respiratory problems
  • An early detection and proper treatment of the condition can yield better prognosis than a late detection and inadequate treatment

Additional and Relevant Useful Information for Congenital Lymphangiectasia:

The lymph vessels carry lymph in the body. Lymph results from filtration of blood, as it travels to and from the tissues. It is a colorless because it lacks red blood cells; instead, it contains lymphocytes. It is central to the immune system. Lymphocytes are the main white blood cells found in the lymph, which is the fluid of the lymphatic system.

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. 3, 2017
Last updated: Aug. 14, 2018