From Overlooked to Unveiled: A Rare Case of Focal Jejunal Lymphangiectasia Presenting as Obscure Gastrointestinal Bleeding

Abstract

Intestinal lymphangiectasia (IL) is a rare disorder characterized by dilated lymphatic vessels within the small bowel wall. Focal IL is exceptionally uncommon, with gastrointestinal (GI) bleeding being a rare presentation. We report a case of a 50-year-old man presenting with recurrent melena and chronic iron deficiency anemia, in whom multiple endoscopic and radiological evaluations were initially inconclusive. Capsule endoscopy identified white punctate and plaque-like mucosal changes in the mid-jejunum, prompting a retrospective review of prior computed tomographic images, which uncovered a previously overlooked focal eccentric septate hypodense jejunal lesion. Surgical resection confirmed focal IL histologically. This case highlights the importance of a multidisciplinary approach and a high index of clinical suspicion in the evaluation of obscure GI bleeding, as focal IL is rare and may present with subtle imaging findings that are easily missed.

Keywords

intestinal lymphangiectasia - focal jejunal lymphangiectasia - obscure gastrointestinal bleeding - CT imaging - capsule endoscopy

Introduction

Intestinal lymphangiectasia (IL) is a rare disorder characterized by dilated lymphatic vessels in the intestinal wall. It can be primary, due to congenital lymphatic abnormalities, or secondary, resulting from lymphatic obstruction. Depending on the site of blockage of mesenteric lymphatic drainage, IL may be generalized or localized.[1] Focal IL is a rare entity with only a limited number of cases reported globally. While IL often presents with malabsorption and protein-losing enteropathy, gastrointestinal (GI) bleeding is an uncommon manifestation, particularly in focal IL. Here, we describe a case of focal jejunal lymphangiectasia presenting as obscure GI bleeding.

Case Report

A 50-year-old man of Cameroonian origin presented to the hematology department with a long-standing history of iron deficiency anemia and recurrent melena necessitating multiple blood transfusions. He had undergone multiple evaluations in the past, including upper and lower GI endoscopies, bone marrow studies, and computed tomography (CT), all of which were noncontributory. He was admitted for further evaluation and management.

The patient had no comorbidities and was hemodynamically stable. Blood investigations revealed hemoglobin of 8.2 g/dL, mean corpuscular volume of 66 fL, and iron profile with serum iron of 19 µg/dL, and transferrin saturation of 5%. Peripheral smear showed microcytic hypochromic anemia. Bone marrow studies showed hypercellular marrow, trilineage hematopoiesis with erythroid hyperplasia consistent with iron-deficiency anemia. The patient underwent a PET-CT scan, which showed mildly hypermetabolic splenomegaly and diffuse skeletal hypermetabolic activity without definite corresponding CT scan abnormalities, likely representing a hematopoietic response. No other abnormal focal lesions were detected. The patient was conservatively managed with intravenous and oral iron supplementation and was discharged with advice for a gastroenterology review.

Two months later, the patient re-presented with recurrent melena and was admitted to the gastroenterology department for further evaluation. Colonoscopy and upper GI endoscopy were repeated; however, they failed to provide any additional diagnostic information. A contrast-enhanced CT angiography was performed, which came out as normal except for mild hepatosplenomegaly. No evidence of active bleeding, bowel thickening, or focal lesions was identified.

Subsequently, capsule endoscopy was performed, which revealed a localized segment of white punctate and plaque-like areas in mid-jejunum ([Fig. 1]) extending approximately for a length of 6 to 8 cm with few areas of active ooze, suggestive of focal lymphangiectasia. A retrospective review of the prior imaging revealed an eccentric focal non-enhancing septate fluid density lesion in mid-jejunum seen persistently in both PET-CT and CT angiography studies ([Figs. 2] and [3]). The lesion was previously overlooked as normal jejunal mucosal folds with fluid-filled lumen. The rest of the bowel was normal with no other focal lesions. No associated mesenteric changes or ascites were seen. Other secondary causes of lymphangiectasis were also ruled out.

Fig. 1 (A and B) Capsule endoscopy images show punctate and plaque-like white areas in mid-jejunum, giving a “snowflake-like appearance.” Few areas of active ooze are seen (white arrows in B).

Fig. 2 Plain (A), arterial phase (B), and venous phase (C) CT images from PET-CT study done at initial admission show an eccentric fluid density non-enhancing lesion (white arrows) in mid-jejunum with intact serosal surface.

Fig. 3 Arterial phase (A) and venous phase (B—axial, C—coronal, D—sagittal) images of the CECT done 2 months later at second admission show persistent eccentric septate non-enhancing low attenuation lesion (white arrows) in mid-jejunum.

The patient underwent diagnostic laparoscopy followed by laparoscopic-assisted small bowel resection. The gross specimen ([Fig. 4]) of the resected small bowel showed a short segment of grey-white granular mucosa with prominent mucosal folds and focal polypoidal areas with intact serosa. Histopathological analysis revealed multiple polypoid lesions with moderately to severely dilated mucosal and submucosal lymphatics, filled with edematous fluid and occasional blood, confirming small bowel lymphangiectasia ([Fig. 5]).

Fig. 4 (A and B) Gross specimen of the resected mid-jejunum showing a short segment of grey-white granular mucosa with prominent mucosal folds and focal polypoidal areas with intact serosa (B).

Fig. 5 Hematoxylin and eosin stain: (A) Whole mount view of jejunal tissue. (B) 10× magnification view showing dilated mucosal lymphatics with loss of crypts. (C) 5× magnification view showing moderately to severely dilated submucosal lymphatics. (D) Dilated lymphatics lined by a single layer of flattened endothelial cells filled with edema fluid and blood.

The postoperative course was uneventful. The patient remained hemodynamically stable, tolerated soft oral diet, melena resolved, and was discharged with dietary recommendations and follow-up advice.

Discussion

Intestinal lymphangiectasia is an uncommon disorder characterized by dilated mucosal and submucosal lymphatic vessels within the intestinal wall, leading to lymph leakage into the GI tract. Primary IL generally occurs in children and adolescents due to a congenital abnormality of the lymphatic system. In contrast, secondary IL is more commonly seen in adults and results from lymphatic obstruction and increased lymphatic pressure arising from various conditions, including lymphoma, systemic lupus erythematosus, inflammatory bowel disease, malignancies, constrictive pericarditis, and following abdominal surgeries and radiotherapy.[2] According to the distribution, IL can be either generalized or focal. Most reported cases of IL are of the generalized form. Focal or localized IL is extremely rare with only a limited number of cases documented globally, and is considered secondary to a localized developmental abnormality of lymphatic vessels.[3]

The clinical manifestations of IL are diverse, most often presenting with symptoms related to protein-losing enteropathy, including edema, diarrhea, and malabsorption. However, GI bleeding as seen in our case is a rare presentation, especially in focal IL. The pathophysiology behind bleeding in IL is not entirely understood. One proposed mechanism involves the obstruction of normal lymphatic drainage, leading to increased pressure and the subsequent formation of abnormal connections between the lymphatic and vascular systems. This can result in the rupture of these vessels into the intestinal lumen, causing bleeding. Poirier and Alfidi reported a case of IL presenting with severe GI bleeding in which lymphangiography demonstrated the passage of contrast medium from abnormal intra-abdominal lymphatics into the GI tract. They postulated that abnormal vascular–lymphatic communications could be the source of bleeding in their case.[4]

Diagnostic approaches for IL include imaging studies such as contrast-enhanced computed tomography (CECT) and magnetic resonance imaging (MRI), endoscopic imaging, and histopathological confirmation. CECT in generalized forms of IL may reveal characteristic findings such as diffuse nodular thickening of the small bowel or linear hypodense streaks representing dilated lymphatic channels. Associated findings can include mesenteric fat stranding, ascites, pleural effusion, and other edematous changes.[1] Non-enhanced, fluid-sensitive MR sequences may show bright signal intensity corresponding to lymphangiectasia in the mucosa.[5] However, being a rare entity, limited documentation exists on the imaging characteristics of focal IL. Reported cases describe focal areas of concentric bowel wall thickening with low attenuation on CT, reflecting the presence of lipid-rich chylous fluid within the dilated lymphatics.[1] A “halo sign” has also been described, consisting of a thickened, low-attenuation inner ring representing dilated lymphatics and a higher-attenuation outer ring of muscularis propria and serosa.[5] [6] In contrast to the previously reported concentric low-attenuation bowel wall thickening in focal IL, our case demonstrated an eccentric, low-attenuation lesion. In the absence of high clinical suspicion and knowledge, these imaging findings may be misinterpreted as focal fluid-distended bowel loops due to water meal administered prior to CT/MR enterography or may mimic other pathologies such as bowel ischemia, inflammatory bowel disease, lymphoma, or neoplastic mucinous deposits.

The term “obscure GI bleeding” is used for recurrent or persistent GI bleeding from a source that cannot be identified using upper or lower GI endoscopy, as seen in our case.[7] In such situations, capsule endoscopy has emerged as a valuable tool, as it allows for direct visualization of the small bowel mucosa.[7] [8] Endoscopy demonstrates scattered white spots overlying the small intestinal mucosa, a finding commonly referred to as “snowflake appearance.”[5]

Therapeutic strategies for IL depend on the extent and severity of the disease. Conservative management includes dietary modifications, such as a low-fat, high-protein diet supplemented with medium-chain triglycerides, aiming to reduce lymphatic pressure and protein loss.[9] In cases where IL is localized and symptomatic, surgical resection of the affected bowel segment can be curative.[3]

Conclusion

Localized IL is a rare cause of GI bleeding. A keen eye and strong clinical suspicion are crucial for identifying focal IL on contrast-enhanced CT, as the findings are often subtle and easily missed. A multidisciplinary approach is crucial for diagnosis and management in challenging cases of obscure GI bleeding. This case underscores the importance of considering focal IL in the differential diagnosis of obscure GI bleeding.

Teaching Points

• IL is an uncommon disorder characterized by dilated lymphatic vessels within the intestinal wall.

• IL can be either focal or generalized, with focal/localized IL being an extremely rare entity.

• IL most often presents with symptoms related to protein-losing enteropathy, including edema, diarrhea, and malabsorption. Obscure GI bleeding is an uncommon presentation, particularly in the focal type.

• Focal IL on CT may present as a focal eccentric septate fluid density lesion, contrasting with the more commonly described concentric pattern.

Conflict of Interest

None declared.

• References

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Publication History

Article published online:
17 June 2025