Published online Feb 6, 2024. doi: 10.12998/wjcc.v12.i4.746
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
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.
The research seeks to fill gaps in knowledge, offering insights for more effective management of adult PIL patients.
The study aims to enhance understanding by investigating clinical presentation, diagnosis, treatment, complications, and prognoses in adult PIL cases.
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.
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.
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.
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.