Primary Intestinal Lymphangiectasia Presenting as Recurrent Chylous Ascites: A Rare Case

Area of Science:

• Gastroenterology
• Rare Diseases
• Diagnostic Challenges

Background:

• Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy, predominantly diagnosed in childhood.
• Adult-onset PIL is exceptionally rare, presenting significant diagnostic hurdles and often misdiagnosed as other gastrointestinal disorders.

Purpose of the Study:

• To report a unique case of adult-onset PIL in a 28-year-old female presenting with recurrent chylous ascites and hypoalbuminemia.
• To emphasize the diagnostic challenges and management strategies for adult-onset PIL, particularly when initially misdiagnosed.

Main Methods:

• Comprehensive evaluation including exclusion of hepatic, malignant, and infectious etiologies.
• Diagnostic procedures involved imaging, ascitic fluid analysis, upper endoscopy, and terminal ileal biopsies.
• Treatment involved dietary modification, budesonide, and subsequently octreotide therapy.

Main Results:

• The patient presented with chylous ascites and hypoalbuminemia, initially suspected as Crohn's disease.
• Histopathology confirmed lymphatic dilation, leading to a diagnosis of PIL.
• Dietary management and budesonide showed partial response, while octreotide therapy resulted in gradual resolution of ascites.

Conclusions:

• Adult-onset PIL requires high clinical suspicion and thorough investigation, including histopathology, to differentiate from inflammatory bowel disease.
• Dietary therapy is the cornerstone of management, with pharmacologic options like octreotide beneficial in refractory cases.
• This case contributes to the limited literature on adult-onset PIL and underscores the need for increased awareness.