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Gastrointestinal manifestations of multiple endocrine neoplasia type 2
Mark S Cohen1, John E Phay, Charlotte Albinson
1Department of Surgery, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Objective:
To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes.
Summary Background Data:
The MEN 2 syndromes are characterized by medullary thyroid carcinoma and other endocrinopathies. In addition, some patients with MEN 2A develop Hirschsprung's disease (HD), and all patients with MEN 2B have intestinal neuromas and megacolon that can cause significant gastrointestinal problems.
Methods:
From 83 families with MEN 2A, eight patients with HD were identified (MEN 2A-HD). These and all patients with MEN 2B followed at the authors' institution (n = 53) were sent questionnaires to describe the onset and type of gastrointestinal symptoms and treatment they had before the diagnosis of MEN 2. Records of all patients responding were reviewed, including radiographic imaging, histology, surgical records, and genetic testing.
Results:
Thirty-six of the 61 patients (59%) responded (MEN 2A = 8, MEN 2B = 28) to the questionnaires. All patients with MEN 2A-HD were operated on for HD 2 to 63 years before being diagnosed with MEN 2. All patients responding were underweight as infants and had symptoms of abdominal pain, distention, and constipation. Eighty-eight percent had hematochezia, 63% had emesis, and 33% had intermittent diarrhea before surgery. All patients with MEN 2A-HD had rectal biopsies with a diverting colostomy as the initial surgical procedure. This was followed by a colostomy takedown and pull-through procedure at a later interval. Ninety-three percent of patients with MEN 2B had gastrointestinal symptoms 1 to 24 years before the diagnosis of MEN 2. Symptoms included flatulence (86%), abdominal distention or being underweight as a child (64%), abdominal pain (54%), constipation or diarrhea (43%), difficulty swallowing (39%), and vomiting (14%). Seventy-one percent of patients with MEN-2B with gastrointestinal symptoms had radiographic imaging, 32% were admitted to the hospital, and 29% underwent surgery.
Conclusions:
Patients with MEN 2A-HD had a typical HD presentation and always required surgery. Patients with MEN 2B have significant gastrointestinal symptoms, but less than a third had surgical intervention. Understanding the clinical course and differences in these patients will improve clinical management.
Insights
Patients with MEN 2A-HD require surgery for Hirschsprung's disease, while MEN 2B patients experience significant gastrointestinal issues but less surgical intervention. Understanding these differences aids clinical management.
Area of Science:
- Gastroenterology
- Endocrinology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 2 (MEN 2) syndromes involve medullary thyroid carcinoma and other endocrinopathies.
- MEN 2A can be associated with Hirschsprung's disease (HD), while MEN 2B presents with intestinal neuromas and megacolon, causing gastrointestinal problems.
Purpose of the Study:
- To investigate the clinical features, natural history, and surgical management of gastrointestinal manifestations in MEN 2 syndromes.
- To differentiate the gastrointestinal presentations and treatment pathways between MEN 2A-HD and MEN 2B.
Main Methods:
- Retrospective review of patients with MEN 2A-HD (n=8) and MEN 2B (n=53) diagnosed and followed at the institution.
- Questionnaires were sent to patients to gather information on gastrointestinal symptom onset and prior treatments.
- Medical records, including imaging, histology, surgical reports, and genetic testing, were analyzed.
Main Results:
- All MEN 2A-HD patients underwent surgery for HD prior to MEN 2 diagnosis, presenting with typical HD symptoms and requiring diverting colostomy and pull-through procedures.
- MEN 2B patients exhibited a range of gastrointestinal symptoms, including flatulence, abdominal distention, pain, constipation/diarrhea, dysphagia, and emesis, often preceding MEN 2 diagnosis by years.
- While 93% of MEN 2B patients had gastrointestinal symptoms, less than a third (29%) underwent surgical intervention.
Conclusions:
- Patients with MEN 2A-HD present with classic Hirschsprung's disease requiring surgical correction.
- MEN 2B patients experience substantial gastrointestinal morbidity, though surgical intervention is less common compared to MEN 2A-HD.
- Differentiating the gastrointestinal clinical course between MEN 2A-HD and MEN 2B is crucial for optimizing patient management.