Acknowledgement of Congenital Pulmonary Lymphangiectasia has not been added yet.

Congenital Pulmonary Lymphangiectasia is an ultra-rare disorder with an estimated incidence of less than 1 per 1,000,000 live births. Due to its rarity and early mortality in many cases, exact prevalence figures are difficult to establish. The condition is often diagnosed in neonates or infants, although milder forms may not be recognized until later in childhood. A slight male predominance has been observed in some studies.

Name	Abbreviation
Pulmonary Lymphangiectasia
Congenital Pulmonary Cystic Lymphangiectasia
Primary Pulmonary Lymphangiectasia	PPL
Lymphatic Pulmonary Edema
Chylous Pulmonary Disease

The cause of CPL is thought to be related to developmental defects in the formation of the lymphatic system in the lungs. The lymphatic vessels in the lungs fail to develop properly during fetal life, leading to abnormal dilation and impaired drainage. Potential contributing factors include:

• Genetic mutations: Abnormalities in genes related to lymphatic development, such as VEGFR3 (vascular endothelial growth factor receptor 3), FLT4 (fms-related tyrosine kinase 4), and PROX1 (prospero homeobox 1), have been implicated in some cases of CPL.

• Fetal developmental anomalies: Defects in the early development of the lymphatic system around 20 weeks gestation, possibly from environmental factors, can lead to the malformation of the lung's lymphatic vessels.

Genetic syndromes: CPL can be associated with congenital syndromes, such as Turner syndrome, Noonan syndrome and other chromosomal abnormalities, which can lead to lymphatic malformations.

Symptoms of congenital pulmonary lymphangiectasia range from mild to life-threatening, with the most severe forms appearing soon after birth, and milder forms appearing after the first few months of life. 

Neonatal Presentation:

• Severe respiratory distress (immediate after birth)

• Cyanosis (bluish skin due to low oxygen)

• Tachypnea (rapid breathing)

• Pleural effusions (accumulation of fluid in the pleural cavity)

• Pulmonary edema (fluid buildup in lung tissues)

Later Manifestations:

• Recurrent respiratory infections

• Chronic wheezing and coughing

• Failure to thrive (poor growth and weight gain due to respiratory compromise)

• Recurrent pleural effusions (increased accumulation of lymph in the pleural space)

• Chylothorax (presence of chyle lymphatic fluid in the pleural cavity)

• Pulmonary hypertension (increased blood pressure in the lungs' blood vessels)

• Chronic hypoxemia (long-term low blood oxygen levels)

Diagnosis of CPL typically involves a combination of clinical evaluation, imaging studies, and sometimes genetic testing:

1. Clinical Evaluation:

   • A detailed history, including prenatal and postnatal factors, can be helpful.

   • Physical examination reveals signs of respiratory distress, cyanosis, and possible edema or pleural effusion.

2. Imaging Studies:

   • Chest X-ray: Can reveal bilateral lung infiltrates, pleural effusions and pulmonary edema.

   • CT scan: Shows dilated lymphatic vessels in the lungs and pleura, confirming the presence of CPL.

   • MRI: Provides detailed images of the lung and lymphatic system, helping to assess the extent of the malformation.

   • Ultrasound: Useful in detecting fluid accumulations such as pleural effusion or chylothorax.

   • Lymphoscintigraphy: A specialized imaging technique that evaluates the function of lymphatic vessels and identifies any blockages or abnormalities.

3. Genetic Testing:

   • This can help identify any genetic mutations associated with CPL, especially in syndromic cases or familial patterns.

4. Lung Biopsy:

   • In some cases, a lung biopsy may be performed to confirm the diagnosis and examine tissue for dilated lymphatic vessels.

Diagnostic tests of Congenital Pulmonary Lymphangiectasia has not been added yet

Management of Congenital Pulmonary Lymphangiectasia is supportive, focusing on alleviating symptoms and preventing complications:

• Respiratory Support:

  • Mechanical ventilation or CPAP (Continuous Positive Airway Pressure) for infants in respiratory distress.

  • Oxygen therapy to address hypoxemia.

  • Pleural drainage: Removal of excess fluid from the pleural space in cases of chylothorax or pleural effusion.

• Nutritional Support:

  • Infants with feeding difficulties may require specialized feeding techniques or medium-chain triglyceride (MCT) diets to aid in nutrient absorption.

  • Nutritional supplementation may be necessary for infants with failure to thrive.

• Pharmacologic Treatment:

  • Diuretics to manage fluid overload and edema.

  • Antibiotics to treat respiratory infections.

  • Bronchodilators to relieve wheezing in some cases.

• Surgical and Interventional Procedures:

  • Pleurodesis (obliteration of the pleural space) may be considered for recurrent chylothorax.

  • Lymphatic embolization or surgery to remove or reroute dilated lymphatic vessels may be performed in severe cases.

Treatment is highly individualized, often requiring a multidisciplinary approach with continual monitoring, involving pediatric pulmonologists, physical therapists, neonatologists, geneticists and surgeons.

 

The prognosis for CPL varies significantly depending on the severity of the disease and the timing of diagnosis:

• Severe cases with significant chylothorax or hydrops fetalis tend to have a poor prognosis, with many infants not surviving beyond the neonatal period without aggressive intervention.

• Milder forms of CPL may allow for long-term survival, though affected individuals often experience chronic respiratory issues, recurrent infections and possible growth delays.

• Pulmonary hypertension and chronic respiratory insufficiency can complicate the long-term prognosis, leading to progressive health issues in survivors.

• Early diagnosis and timely intervention (such as oxygen therapy, nutritional support, and surgical management) can improve outcomes and increase the chances of survival.

Tips or Suggestions of Congenital Pulmonary Lymphangiectasia has not been added yet.

1. Esther Jr, C. R., & Barker, P. M. (2004). “Pulmonary lymphangiectasia: Diagnosis and clinical course.” Pediatric Pulmonology, 38(4), 308-313.

2. Bellini, C., et al. (2006). “Congenital pulmonary lymphangiectasia.” Orphanet Journal of Rare Diseases, 1, 43.

3. Faul, J. L., et al. (2000). “Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome.” American Journal of Respiratory and Critical Care Medicine, 161(3), 1037-1046.

4. Congenital pulmonary lymphangiectasia. (n.d.) NORD (National Organization for Rare Disorders). Congenital pulmonary lymphangiectasia