Abstract Background DiGeorge syndrome is associated with congenital heart disease which may elevate central venous pressures driving enteric chyle leak and protein-losing enteropathy. The highly variable phenotype is expanding to include rare lymphatic manifestations providing alternate aetiologies for enteric protein loss. Case summary We report a patient with DiGeorge syndrome and severe protein-losing enteropathy secondary to intestinal lymphangiectasia. An 11-year-old girl with DiGeorge syndrome and repaired interrupted aortic arch presented with progressive generalized oedema, marked hypoalbuminaemia and elevated faecal alpha-1 antitrypsin. Widespread duodenal and colonic oedema on endoscopy supported the diagnosis of protein-losing enteropathy and she was established on a low-fat diet and regular albumin and frusemide infusions. After several non-diagnostic biopsies, capsule endoscopy showed long segment jejunal and ileal lymphangiectasia. Intractable protein loss complicated by gastrointestinal haemorrhage made her albumin and blood transfusion dependent despite escalation of therapy to regular subcutaneous immunoglobulin, oral rituximab, and intravenous rituximab. After failed mesenteric embolization, she required a laparotomy where duodenal oversewing was performed. Within a week her blood counts stabilized and transfusion dependence resolved. Discussion In DiGeorge syndrome, intestinal lymphangiectasia may drive severe protein losing enteropathy and gastrointestinal haemorrhage and can respond to targeted surgical disruption of peri-duodenal lymphatics.
Carrigan et al. (Thu,) studied this question.
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