P1338 - The Significance of Gastrointestinal Histiocytosis: Case Series and Literature Review

Paige Gurizzian, MD, Erna Forgo, MD, Sudipto Mukherjee, MD, PhD, MPH, Pauline Funchain, MD, Brian Baggott, MD
Cleveland Clinic Foundation, Cleveland, OH

Introduction: Gastrointestinal histiocytosis can be a diagnostic challenge as there are many possible etiologies and the incidence of most of these diseases is quite rare. We sought to review the causes of GI histiocytosis and evaluate the significance of this finding.

Methods: A search of Cleveland Clinic Foundation (CCF) adult patients was conducted for pathology of histiocytes in the GI tract over the last 15 years. This search collected patient demographics (e.g., age, sex, race), presenting symptom(s), indication for endoscopy, site(s) of GI involvement, and endoscopic findings. This search also included related medical conditions such Langerhans cell histiocytosis, Erdheim-Chester disease, or Rosai-Dorfman disease as well as BRAF, MAP kinase, and ALK gene mutations. A literature review was also performed by searching the keywords “gastrointestinal,” “histiocyte,” and “histiocytosis,” for articles published in the last 20 years. The same data was collected for the literature review as the CCF patients.

Results: The search for CCF patients with GI histiocytosis yielded 108 cases, while the literature review yielded 26 cases. Demographic data is available in Table 1. Most patients were asymptomatic, including 38 (35.19%) CCF patients and 10 (38.46%) literature review patients. The leading symptom was abdominal pain, affecting 26 (24.07%) CCF patients and four (15.38%) literature review patients. The top reason endoscopy was performed was due to signs and symptoms, as was the case for 70 patients (61.95%) at the Cleveland Clinic and 14 patients (53.85%) from the literature review. The most common site of involvement for CCF patients was the stomach in 62 cases (54.39%). However, the most common site of involvement for literature review patients was the large intestine in 15 cases (51.72%).

Discussion: The most common etiology for CCF cases was xanthomas or xanthelasma, occurring in 32 (29.63%) patients. In 53 (49.07%) of the cases, the etiology was unknown and could not be determined based on the information available. This was in stark contrast to the literature review, with 21 of the 26 cases (80.77%) due to Langerhans cell histiocytosis. This study demonstrates that careful review of the history as well as detailed workup including endoscopy and genetic testing can help diagnose the cause of gastrointestinal histiocytosis.



Disclosures:


Paige Gurizzian, MD, Erna Forgo, MD, Sudipto Mukherjee, MD, PhD, MPH, Pauline Funchain, MD, Brian Baggott, MD. P1338 - The Significance of Gastrointestinal Histiocytosis: Case Series and Literature Review, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.