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Congenital Pulmonary Lymphangiectasia

Abstract

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NORD is very grateful to Eugenio Bonioli, MD, and Carlo Bellini, MD, PhD, Department of Pediatric Science, University of Genoa, Italy, for assistance in the preparation of this report.

Synonyms of Congenital Pulmonary Lymphangiectasia

  • CPL
  • PPL
  • primary pulmonary lymphangiectasia
  • pulmonary cystic lymphangiectasis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that is present at birth (congenital). Affected infants have abnormally widened (dilated) lymphatic vessels within the lungs. The lymphatic system helps the immune system in protecting the body against infection and disease. It consists of a network of tubular channels (lymph vessels) that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph accumulates in the tiny spaces between tissue cells and contains proteins, fats, and certain white blood cells known as lymphocytes.

Infants with CPL often develop severe, potentially life-threatening, respiratory distress shortly after birth. Affected infants may also develop cyanosis, a condition marked by abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. The exact cause of CPL is unknown.

CPL can occur as a primary or secondary disorder. Primary pulmonary lymphangiectasia can occur as isolated congenital defect within the lungs or as part of a generalized form of lymphatic vessel malformation (lymphangiectasia) that affects the entire body, usually associated with generalized lymphedema. Secondary CPL occurs secondary to a variety of heart (cardiac) abnormalities, and/or lymphatic obstructive forms.

Congenital Pulmonary Lymphangiectasia Resources

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