Retrospective Study
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2024; 12(4): 746-757
Published online Feb 6, 2024. doi: 10.12998/wjcc.v12.i4.746
Experience of primary intestinal lymphangiectasia in adults: Twelve case series from a tertiary referral hospital
Ji Eun Na, Ji Eun Kim, Sujin Park, Eun Ran Kim, Sung Noh Hong, Young-Ho Kim, Dong Kyung Chang
Ji Eun Na, Department of Internal Medicine, Inje University Haeundae Paik Hospital, Busan 48108, South Korea
Ji Eun Kim, Eun Ran Kim, Sung Noh Hong, Young-Ho Kim, Dong Kyung Chang, Department of Medicine, Samsung Medical Center, Seoul 06351, South Korea
Sujin Park, Department of Pathology, Samsung Medical Center, Seoul 06351, South Korea
Author contributions: Na JE and Kim JE contributed study concept and design; Na JE and Kim JE contributed acquisition, analysis, or interpretation of the data; Na JE and Kim JE contributed writing and drafting of the manuscript; Kim JE, Hong SN, Kim ER, Kim YH, Chang DK and Park S contributed critical revision of the manuscript for important intellectual content; Na JE contributed statistical analysis; all authors approved the final submission.
Institutional review board statement: The study was reviewed and approved by the Institutional Review Board of Samsung Medical Center (SMC IRB No. 2023-02-093-001).
Informed consent statement: The requirement for informed consent was waived due to the retrospective nature of the study and its observational design.
Conflict-of-interest statement: The authors have no conflicts of interest relevant to this study to disclose.
Data sharing statement: Data underlying this article are available from the corresponding author upon reasonable request.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ji Eun Kim, MD, PhD, Department of Medicine, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul 06351, South Korea.happyjinny0706@gmail.com
Received: October 11, 2023
Peer-review started: October 11, 2023
First decision: December 8, 2023
Revised: December 17, 2023
Accepted: January 8, 2024
Article in press: January 8, 2024
Published online: February 6, 2024
Processing time: 106 Days and 1.3 Hours
ARTICLE HIGHLIGHTS
Research background

This thesis explores Primary Intestinal Lymphangiectasia (PIL), a rare disorder affecting the gastrointestinal tract. PIL involves the dilation or rupture of the gut's lymphatic system, leading to lymph leakage, lymphopenia, hypogammaglobulinemia, and other symptoms like peripheral edema and abdominal pain. Despite its rarity, PIL has been reported in both children and adults, with unclear mechanisms and prevalence.

Research motivation

The research seeks to fill gaps in knowledge, offering insights for more effective management of adult PIL patients.

Research objectives

The study aims to enhance understanding by investigating clinical presentation, diagnosis, treatment, complications, and prognoses in adult PIL cases.

Research methods

The research employed a retrospective screening of adult patients diagnosed with PIL from March 2016 to September 2021. Utilizing the specific disease code for extremely rare diseases in South Korea, medical records were examined, excluding those with insufficient treatment history or follow-up less than six months. Diagnosis criteria involved clinical symptoms, imaging tests, and histological confirmation. Various tests, including blood, radiological, and endoscopic examinations, were conducted to confirm the diagnosis. Data collected included demographic information, diagnostic findings, treatment details, and outcomes. Treatment options ranged from medical therapies (diet, albumin administration, octreotide, etc.) to interventions (magnetic resonance imaging, lymphangiography, embolization). Complications and prognoses were tracked through annual hospitalization frequency, infections, thromboembolism, and mortality. Patients were followed from diagnosis to the last outpatient visit or date of death.

Research results

In this study, 12 out of 18 adult patients diagnosed with PIL were included in the case series. The patients, aged 28 yr to 76 yr, exhibited a well-balanced gender distribution, with prevalent comorbidities such as cerebrovascular disease, diabetes mellitus, and cancer. Diagnostic findings revealed common symptoms of PIL, including peripheral edema in all patients, diarrhea in 75%, and abdominal pain in 33%. Lymphocytopenia was observed in 42% of patients. Radiological and endoscopic examinations consistently confirmed features of PIL, such as bowel wall thickening, ascites, pleural effusion, and a distinctive snowflake appearance. Treatment involved dietary education focusing on a low-fat, high-protein diet with medium-chain triglycerides, along with periodic albumin replacement. Medications like octreotide, tranexamic acid, steroids, sirolimus, and everolimus were employed, with individualized sequences and durations. Eight patients continued long-term treatment, while some achieved symptom improvement and discontinued medication. Complications included infections in six patients, thromboembolism in three cases, and mortality in two patients. Pleural effusion cases underwent lung mediastinal magnetic resonance imaging and lymphangiography, with one patient undergoing embolization. The study contributes valuable insights into the clinical presentation, treatment, and outcomes of adult PIL cases, highlighting the challenges and complexities associated with the management of this rare disorder. Remaining issues include optimizing treatment strategies, addressing complications, and improving long-term prognoses.

Research conclusions

The study enhances our understanding of adult PIL, emphasizing the need for personalized treatment approaches and proactive management strategies. The findings contribute valuable knowledge to the limited existing literature on this rare condition, offering insights that can guide clinicians in the diagnosis and treatment of adult patients with PIL.

Research perspectives

Future research in PIL should focus on refining treatment protocols, exploring combination therapies, conducting larger multi-center studies, investigating the role of diet, and addressing immune system changes. These efforts will contribute to improving the management and outcomes of adult PIL patients.