Case report of primary intestinal lymphangiectasia diagnosed in an octogenarian by ileal intubation and by push enteroscopy after missed diagnosis by standard colonoscopy and EGD

Abstract

Rationale:Primary intestinal lymphangiectasia (PIL) is a rare, presumably congenital lesion that is usually diagnosed in patients < 3 years old, is rarely first diagnosed in adulthood, and when first diagnosed in adulthood typically presents with symptoms for many years. Although PIL is often identified by endoscopic abnormalities, it must be emphasized that the jejunoileum/distal duodenum must be intubated for diagnosis because the lesions are present in these regions. This work demonstrates that 1)-PIL can occur in an octogenarian; 2)-shows that the characteristic endoscopic findings are not found at colonoscopy without terminal ileal intubation; and 3)-may be missed at standard EGD without distal duodenal intubation.Diagnoses:A patient initially presented at age 83 with symptoms of watery diarrhea, abdominal distention, 5-Kg-weight-gain, and weakness for one month, and had typical clinical findings of PIL including chylous ascites, pleural effusions, bilateral pitting leg edema, hypoalbuminemia, borderline lymphopenia, hypovitaminosis-D, and hypocalcemia. Protein-losing-enteropathy was demonstrated by positive stool tests for alpha-1-antitrypsin. Standard colonoscopy revealed no significant lesions, but terminal ileal intubation during colonoscopy demonstrated creamy-white, punctate, mucosal lesions in terminal ileum, characteristic of lymphangiectasia. EGD with intubation to mid-descending duodenum revealed no significant lesions, but subsequent enteroscopy demonstrated lesions in distal duodenum/proximal jejunum similar to those in terminal ileum characteristic of lymphangiectasia. Histopathologic analysis of lesions of terminal ileum/distal duodenum demonstrated dilated mucosal vessels, confirmed as lymphatic vessels by immunohistochemistry. PIL was diagnosed after excluding secondary causes of intestinal lymphangiectasia.Interventions/Outcomes:Patient placed on standard PIL diet: oral supplements of medium-chain triglycerides, a high protein diet, supplements of fat-soluble vitamins, and avoiding long-chain fatty acids, with marked clinical improvement.Lessons:This work shows that: 1)-standard EGD and colonoscopy may miss characteristic lesions of PIL, 2)-enteroscopy or terminal ileal intubation at colonoscopy may be required for the diagnosis because lesions are typically located in distal duodenum/jejunoileum; and 3)-PIL can first present in the very elderly even with symptoms of short duration.

Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia

“…Abnormalities in the entire small intestine are always ignored. In some cases, it is possible that typical findings could not be visible in EGD and random biopsies might be negative [ 4 , 27 ]. In a systematic review [ 4 ], the missing rate of routine endoscopy diagnosis was 14% (9/64).…”

Novel Case Report: A Previously Reported, but Pathophysiologically Unexplained, Association Between Collagenous Colitis and Protein-Losing Enteropathy May Be Explained by an Undetected Link with Collagenous Duodenitis

“…Etiologies of PLE include erosive GI mucosal diseases such as Crohn’s disease or GI malignancies; diseases causing intestinal lymphatic fluid loss from lymphatic obstruction, such as primary intestinal lymphangiectasia, or lymphoma; and diseases increasing intestinal mucosal permeability such as Ménétrier's disease [ 25 , 26 ]. CC is a reported cause of PLE but lacks a pathophysiologic basis.…”

Experience of primary intestinal lymphangiectasia in adults: Twelve case series from a tertiary referral hospital

“…Although PIL has been reported in children[ 5 , 6 ], its mechanisms and prevalence remain poorly understood, with some reports suggesting possible genetic alterations. Moreover, several cases with detailed PIL occurrences in adults have also been documented[ 4 , 7 - 11 ].…”