Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B

Denys Gibbons, Michael Camilleri, Alfred D. Nelson, Deborah Eckert

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Background: Gastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon. Objective: The objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon. Methods: We used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon. From these patients’ records, three others with paper medical records were identified through familial association. We used a standard data sheet to identify features of the disease with particular emphasis on megacolon. Results: Of the 11 patients identified with MEN 2B, seven (63%) had megacolon, typically presenting with constipation in infancy or megacolon in childhood. In addition, three patients had esophageal manifestations (two achalasia and one Zenker’s diverticulum). Megacolon often required surgical intervention for intractable constipation, abdominal distension and discomfort. Histopathological features of resected colon revealed enteric and extrinsic nerve hyperplasia and ganglioneuromas of the submucosal and myenteric plexuses. Conclusions: Among patients with MEN 2B, 63% had megacolon. Significant esophageal motor disorders in MEN 2B may affect ∼25% of patients. Any presentation with megacolon should trigger a search for MEN 2B in order to identify the potentially fatal endocrine tumors.

Original languageEnglish (US)
Pages (from-to)449-454
Number of pages6
JournalUnited European Gastroenterology Journal
Volume4
Issue number3
DOIs
StatePublished - Jun 1 2016

Fingerprint

Multiple Endocrine Neoplasia Type 2b
Megacolon
Multiple Endocrine Neoplasia
Constipation
Zenker Diverticulum
Natural Language Processing
Submucous Plexus
Ganglioneuroma
Myenteric Plexus
Esophageal Achalasia
Electronic Health Records
Hyperplasia
Medical Records
Colon

Keywords

  • Achalasia
  • M918T mutation
  • Zenker’s diverticulum

ASJC Scopus subject areas

  • Oncology
  • Gastroenterology

Cite this

Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. / Gibbons, Denys; Camilleri, Michael; Nelson, Alfred D.; Eckert, Deborah.

In: United European Gastroenterology Journal, Vol. 4, No. 3, 01.06.2016, p. 449-454.

Research output: Contribution to journalArticle

@article{2ce58e85498d43febf9c3e05a074274b,
title = "Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B",
abstract = "Background: Gastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon. Objective: The objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon. Methods: We used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon. From these patients’ records, three others with paper medical records were identified through familial association. We used a standard data sheet to identify features of the disease with particular emphasis on megacolon. Results: Of the 11 patients identified with MEN 2B, seven (63{\%}) had megacolon, typically presenting with constipation in infancy or megacolon in childhood. In addition, three patients had esophageal manifestations (two achalasia and one Zenker’s diverticulum). Megacolon often required surgical intervention for intractable constipation, abdominal distension and discomfort. Histopathological features of resected colon revealed enteric and extrinsic nerve hyperplasia and ganglioneuromas of the submucosal and myenteric plexuses. Conclusions: Among patients with MEN 2B, 63{\%} had megacolon. Significant esophageal motor disorders in MEN 2B may affect ∼25{\%} of patients. Any presentation with megacolon should trigger a search for MEN 2B in order to identify the potentially fatal endocrine tumors.",
keywords = "Achalasia, M918T mutation, Zenker’s diverticulum",
author = "Denys Gibbons and Michael Camilleri and Nelson, {Alfred D.} and Deborah Eckert",
year = "2016",
month = "6",
day = "1",
doi = "10.1177/2050640615611630",
language = "English (US)",
volume = "4",
pages = "449--454",
journal = "United European Gastroenterology Journal",
issn = "2050-6406",
publisher = "SAGE Publications Inc.",
number = "3",

}

TY - JOUR

T1 - Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B

AU - Gibbons, Denys

AU - Camilleri, Michael

AU - Nelson, Alfred D.

AU - Eckert, Deborah

PY - 2016/6/1

Y1 - 2016/6/1

N2 - Background: Gastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon. Objective: The objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon. Methods: We used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon. From these patients’ records, three others with paper medical records were identified through familial association. We used a standard data sheet to identify features of the disease with particular emphasis on megacolon. Results: Of the 11 patients identified with MEN 2B, seven (63%) had megacolon, typically presenting with constipation in infancy or megacolon in childhood. In addition, three patients had esophageal manifestations (two achalasia and one Zenker’s diverticulum). Megacolon often required surgical intervention for intractable constipation, abdominal distension and discomfort. Histopathological features of resected colon revealed enteric and extrinsic nerve hyperplasia and ganglioneuromas of the submucosal and myenteric plexuses. Conclusions: Among patients with MEN 2B, 63% had megacolon. Significant esophageal motor disorders in MEN 2B may affect ∼25% of patients. Any presentation with megacolon should trigger a search for MEN 2B in order to identify the potentially fatal endocrine tumors.

AB - Background: Gastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon. Objective: The objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon. Methods: We used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon. From these patients’ records, three others with paper medical records were identified through familial association. We used a standard data sheet to identify features of the disease with particular emphasis on megacolon. Results: Of the 11 patients identified with MEN 2B, seven (63%) had megacolon, typically presenting with constipation in infancy or megacolon in childhood. In addition, three patients had esophageal manifestations (two achalasia and one Zenker’s diverticulum). Megacolon often required surgical intervention for intractable constipation, abdominal distension and discomfort. Histopathological features of resected colon revealed enteric and extrinsic nerve hyperplasia and ganglioneuromas of the submucosal and myenteric plexuses. Conclusions: Among patients with MEN 2B, 63% had megacolon. Significant esophageal motor disorders in MEN 2B may affect ∼25% of patients. Any presentation with megacolon should trigger a search for MEN 2B in order to identify the potentially fatal endocrine tumors.

KW - Achalasia

KW - M918T mutation

KW - Zenker’s diverticulum

UR - http://www.scopus.com/inward/record.url?scp=85006186624&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85006186624&partnerID=8YFLogxK

U2 - 10.1177/2050640615611630

DO - 10.1177/2050640615611630

M3 - Article

AN - SCOPUS:85006186624

VL - 4

SP - 449

EP - 454

JO - United European Gastroenterology Journal

JF - United European Gastroenterology Journal

SN - 2050-6406

IS - 3

ER -