Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy

Abstract

Author contributions: Oh TG designed the case report as a main author; Chung JW and Kim HM contributed to provide background knowledge; Han SJ provided many informations about the patient; Lee JS provided genetic information and accessment; Park JY participated in endoscopic evaluation and accessment; Song SY supervised and checked up the manuscript finally as a corresponding author; all authors reviewed and approved the final manuscript. AbstractPrimary 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.

Novel Magnified Single-Balloon Enteroscopy Enables Observation of Jejunal White Spots Associated with Lymphangiectasia

“…Although, in the patient, capsule endoscopy provides a complete examination of the small intestinal mucosa, and thus, can evaluate the extent of lymphangiectasia, it is limited by an inability to obtain biopsies [5]. Currently, the diagnosis of intestinal lymphangiectasia is made based on characteristic findings on balloon enteroscopy, with further confirmation by histopathological examination of the corresponding biopsy specimens [6,7]. However, there are a few studies reporting the use of endoscopic observation for small bowel lesions.…”

An unusual case of chylous ascites: A case report

“…This makes a true estimate of the incidence difficult to assess [10] . However, IL is now more often discovered incidentally in patients examined for other causes, and it seems to be more common than previously assumed [1,13] .…”

“…The changes are most often observed in the duodenum and can be either segmental, multifocal or diffuse [1,16] . Studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to primary IL [1,13] .…”

Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC)

“…Increased pressure in the vessels results in dilation and rupture, with leakage of lymph fluid into the intestinal lumen [Vignes and Bellanger, ; Wen et al, ; Xinias et al, ]. This loss of lymph fluid leads to the hypoproteinemia, hypoalbuminemia, lymphocytopenia, and hypogammaglobulinemia characteristic of PIL [Vignes and Bellanger, ; Wen et al, ; Oh et al, ; Xinias et al, ]. Symptoms can include diarrhea, edema, ascites, abdominal pain, fatigue, and less commonly, lymphedema [Vignes and Bellanger, ; Wen et al, ; Oh et al, ; Xinias et al, ].…”

“…This loss of lymph fluid leads to the hypoproteinemia, hypoalbuminemia, lymphocytopenia, and hypogammaglobulinemia characteristic of PIL [Vignes and Bellanger, ; Wen et al, ; Oh et al, ; Xinias et al, ]. Symptoms can include diarrhea, edema, ascites, abdominal pain, fatigue, and less commonly, lymphedema [Vignes and Bellanger, ; Wen et al, ; Oh et al, ; Xinias et al, ]. While there have been no reports of concurrent PIL and TSC, the lymphatic system has been implicated in TSC in both lymphangioleiomyomatosis (LAM) [Kwiatkowski et al, ; McCormack et al, ] and lymphedema [Prato et al, 2013; Geffrey and Shinnick et al, 2014].…”