Congenital pulmonary lymphangiectasia

Other Names: CPL; Lymphangiomatosis pulmonary; Pulmonary cystic lymphangiectasis; Lymphangiectasia pulmonary congenital

Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure. It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung).Infants with CPL often develop severe, potentially life-threatening, respiratory distress shortly after birth.They may also develop cyanosis caused by low oxygen levels in the blood, which causes the skin to have a bluish tint.

Cause

The underlying cause of CPL is unknown. It can occur as a primary or secondary disorder (due to another underlying condition). Primary CPL occurs as an isolated defect or as part of a generalized form of lymphatic disease affecting the whole body. Secondary CPL can occur due to a variety of heart abnormalities or lymphatic obstruction. Some cases of CPL have been associated with genetic disorders.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Cyanosis(Blue discoloration of the skin)
• Pleural effusion(Fluid around lungs)
• Respiratory distress(Breathing difficulties)

30%-79% of people have these symptoms

• Ascites(Accumulation of fluid in the abdomen)
• Chronic pulmonary obstruction
• Chylopericardium
• Congestive heart failure(Cardiac failure)
• Cough(Coughing)
• Gastroesophageal reflux(Acid reflux)
• Growth delay(Delayed growth)
• Hydrops fetalis

5%-29% of people have these symptoms

• Hepatomegaly(Enlarged liver)
• Pulmonary arterial hypertension(Increased blood pressure in blood vessels of lungs)
• Pulmonic stenosis(Narrowing of pulmonic valve)
• Splenomegaly(Increased spleen size)
• Tricuspid regurgitation

Diagnosis

The diagnostic approach includes the following: complete family and obstetric history; ultrasound examination and magnetic resonance (MR) studies searching for twin gestation, anatomic abnormalities, heart fetal echo and doppler blood flow assessment; maternal evaluation including blood type, Rhesus factor (Rh), antibody screening, Kleihauer-Betke stain, TORCHES-CLAP titer (Toxoplasma gondii; Rubella virus; Cytomegalovirus; Herpes simplex virus; Enterovirus; Syphilis; Chickenpox [varicella-zoster] virus; Lyme disease [borrelia burgdoferi]; Aids; Parvovirus B19), metabolic studies, and hemoglobin (Hb) electrophoresis; invasive fetal assessment involving amniocentesis (karyotype, cultures, TORCHES-CLAP, and restriction endonuclease and fetal blood sampling: blood type, Hb) electrophoresis, blood gas, cultures, TORCHES-CLAP, and DNA analysis, and fetal effusion sampling (TORCHES-CLAP, protein content, and cell count) The postnatal diagnostic approach includes a laboratory and instrumental evaluation that is needed to rule out various conditions possibly related to PL, and to establish whether PL is primary or secondary.

Treatment

Treatment aims to relieve the symptoms of the disorder and may include CPAP, intubation, and/or fluid drainage. While much of the older literature suggests a very high mortality rate, recent studies suggest that CPL does not have as poor an outlook. Treatment is generally supportive. At birth, in the presence of severe respiratory distress associated with pleural effusion, delivery room management could be a challenge and multiple procedures might be required.

Tracheal intubation and assisted ventilation are usually necessary. When effective gas exchange is not achieved, sterile thoracentesis and/or paracentesis should be considered. Fluid replacement, inotropic support and, in case of persistent pulmonary hypertension, ventilatory management with high frequency oscillatory ventilation and/or nitric oxide may be necessary.

Airway, chest wall, and pulmonary edema, pleural effusion, pulmonary hypoplasia with associated respiratory distress syndrome, perinatal depression, hypoxia, and acidosis are the main problems that occur during delivery room resuscitation, and then during birth stabilization.

The immediate, at birth evacuation of the pleural effusion with assisted ventilation may lead to a favorable outcome of respiratory distress.

In patients with rapidly expanding pleural effusion that requires placing unilateral or bilateral chest tube(s), the large amount of fluid (that is drained over days and weeks) leads to the loss of great quantities of albumin, immunoglobulin, and many other plasma factors that must be replaced, in some cases even on a daily basis. Gastroesophageal reflux requires standard treatment.

Octreotide and antiplasmin have been used in PL and in intestinal lymphangiectasia. When the chyle leakage persists (intractable chylothorax), pleurodesis by instillation of sclerosing agents (talc, fibrin glue, povidone-iodine) or parietal pleurectomy appear to be effective.

Prognosis

Conflicting data have been reported regarding the outcome for children with congenital pulmonary lymphangiectasia (CPL). The prognosis has previously been reported to be very poor, with mortality at about 100% before the 1990s. However, more recent reports suggest that CPL is not a uniformly fatal condition, and that in survivors, the condition improves. This might be due to advances in modern intensive care therapy and also to the fact that severity can vary among affected children. It has been suggested that children with generalized lymphangiectasia who have pulmonary involvement may have less severe CPL and a better prognosis; having a primary developmental defect of the pulmonary lymphatic vessels tends to be associated with a higher mortality.[6] Those with CPL who do survive infancy often continue to have medical problems that are characteristic of chronic lung disease. Gastroesophageal reflux and poor growth are also not uncommon during the first year of life, especially between six and twelve months of age, and are closely related to chronic lung disease.

NIH genetic and rare disease info

• NIH info on Congenital pulmonary lymphangiectasia

Congenital pulmonary lymphangiectasia is a rare disease.

Congenital pulmonary lymphangiectasia Resources
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