Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy

Abstract

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy. Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and hypogammaglobulinemia, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea. Endoscopy reveals diffusely elongated, circumferential and polypoid mucosae covered with whitish enlarged villi, all of which indicate intestinal lymphangiectasia. Diagnosis is confirmed by characteristic tissue pathology, which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi. The prevalence of PIL has increased since the introduction of capsule endoscopy. The etiology and prevalence of PIL remain unknown. Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL. We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25. The relationship between this deletion on chromosome 4 and PIL remains to be investigated.

Keywords: Capsule endoscopy; Chromosome 4q25; Chromosome deletion; Double balloon enteroscopy; Primary intestinal lymphangiectasia.

Figure 1

Capsule endoscopy shows diffuse edematous mucosae covered with enlarged and swollen villi in the jejunum (A), and diffuse finger-like elongated mucosa covered with enlarged whitish villi in the ileum (B).

Figure 2

Capsule endoscopic findings in the duodenum (A), jejunum (B) and ileum (C).

Figure 3

Double balloon enteroscopy was performed with biopsy forceps to obtain a small bowel specimen of polypoid mucosa covered with enlarged whitish villi (A); and additional double balloon enteroscopic findings (B, C).

Figure 4

Histology of mucosal tissue in the jejunum shows multiple dilated lymphatics. A: HE, × 40; B: HE, × 100.

Figure 5

The deletion on chromosome 4q25.