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.

Figure 1

Abdominopelvic CT on admission shows a homogeneous, 10.1 × 4.9 cm right adnexal mass, which has an attenuation of 60 Haunsfield units, characteristic of clotted blood from a hematoma. The patient had been administered warfarin until 1 week earlier for atrial fibrillation, but had no history of abdominal trauma and had no abdominal ecchymoses on physical examination. Follow-up abdominopelvic CT performed 1 month after admission revealed marked shrinkage of adnexal mass to 5.4 × 2.9 cm, highly consistent with resorption of a hematoma.

Figure 2

Endoscopic findings in a female octogenarian with primary intestinal lymphangiectasia. (A) Close-up view with ileal intubation during colonoscopy demonstrates numerous, small, creamy white, punctae consisting of dilated lymphatic vessels filled with lymphatic fluid throughout the terminal ileum. (B and C) Far-away (B) and close-up (C) views at push enteroscopy demonstrate numerous, small, creamy white, punctae consisting of dilated lymphatic vessels filled with lymphatic fluid throughout distal duodenum and proximal jejunum.

Figure 3

Histopathology and immunohistochemistry of lymphangiectasia. (A) Conventional hematoxylin and eosin stain. Medium-power photomicrograph of terminal ileal biopsy taken during ileal intubation at colonoscopy demonstrating a single villus on the mucosal surface containing an extremely dilated vascular space lined by uninflamed epithelium, with histology highly consistent with a lacteal vessel. (B and C) Immunohistochemistry of lymphangiectasia. High-power photomicrographs of terminal ileal biopsy taken during ileal intubation shows immunohistochemical staining with antibodies to D2–40 (podoplanin) avidly binding in cytoplasm of lymphatic endothelium (B), and immunohistochemical staining with antibodies to ERG avidly binding to the nucleus of lymphatic endothelium (C), demonstrating that the vessels are lacteals. Neither antibody demonstrates affinity to ileal epithelial glands.

Figure 4

Electron microscopy of lymphangiectasia. Electron microscopic photograph (×4400) of one intact, dilated lymphatic channel spaces (seen in Fig. 3) lined by lymphatic endothelial cells containing prominent nuclei (labeled N). This space is confirmed to be a lymphatic lumen on electron microscopy due to presence of multiple chylomicrons (arrows) and absence of erythrocytes in the lumen. Inset shows high power (×11,000) of rounded structures with the size, shape, and internal structure compatible with chylomicrons.