With the expanding use of advanced genetic sequencing studies for patients with unique clinical phenotypes, several monogenic disorders causing intestinal lymphangiectasia and PLE have been identified in recent years, resulting from mutations in diacylglycerol acyltransferases 1 (DGAT1) [26,27], Plasmalemma Vesicle Associated Protein (PLVAP) [28,29], CD55 [30,31], collagen and calcium binding EGF domains 1 (CCBE1) [32], among others. The gene discussed is CCBE1; the disease is intestinal lymphangiectasia.