Symptomatic Management of MEN Type 1 at a Community Hospital

Introduction

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder characterized by tumors in the parathyroid glands, pancreas, and pituitary gland. These tumors can lead to a wide range of symptoms, making it difficult to identify which aspects of the disease are primarily manifesting. Gastrointestinal (GI) complaints are a common, but nonspecific presentation of MEN1 that could be attributed to any of the three affected glands. Pancreatic neuroendocrine tumors produce excessive hormones causing acid reflux, peptic ulcers, diarrhea, and abdominal pain. A classic example is Zollinger-Ellison syndrome, associated with gastrin-producing tumors. Other functional pancreatic tumors in MEN1 include insulinomas and glucagonomas, the latter of which causes abdominal cramping and diarrhea. Parathyroid hormone (PTH) secretion from parathyroid adenomas can indirectly cause nausea, abdominal pain, and constipation due to hypercalcemia. Pituitary tumors can also be indirect culprits due to altered appetite and digestion.

Diagnosis can involve imaging, biopsies, or endocrine-specific labs that may not be routinely performed at smaller hospitals. Once diagnosis is established, standard of care for MEN1 includes monitoring hormone levels and tumor progression. Medical management may include proton pump inhibitors (PPIs), somatostatin analogs, dopamine agonists, or calcium binders to manage hormone-related symptoms. The definitive solution can be surgical tumor resection, often requiring otolaryngologists or endocrine surgeons. In settings without these resources, it can be challenging for clinicians to manage this disease. Our case examines GI manifestations of MEN1, demonstrating a multimodal approach with the resource limitations of a small community hospital.

Methods

Our case describes a 40-year-old male with MEN1 with intractable nausea/vomiting, heartburn, abdominal pain, and diarrhea. Although imaging did not demonstrate clear pancreatic or pituitary masses, initial lab results showed primary hyperparathyroidism with hypercalcemia, prolactinemia, and dramatically elevated gastrin levels, raising concern for multiple functional tumors. Identifying the extent of disease was complicated by the nonspecific presentation, paucity of medical records, and logistic constraints. Our facility lacked the capability for more specialized studies, such as positron emission tomography, parathyroid sestamibi scans, or MRIs with dynamic pituitary protocol. Otolaryngology and endocrine surgery were not available to definitely address any underlying masses. Meanwhile, the patient remained severely symptomatic. It required a multidisciplinary team and multiple medications for adequate symptomatic control to facilitate discharge.

Results

Ultimately, symptomatic control was achieved by combining PPIs and sucralfate to target effects of a likely gastrinoma, metoclopramide for a suspected component of gastroparesis from MEN1-related insulin resistance, as well as cinacalcet and fluid resuscitation for hypercalcemia. With this multimodal approach, we were able to stabilize our patient for discharge to pursue further outpatient tests and treatment.

Discussion

When a patient presents with a rare and complex condition in a setting with limited resources, it can pose a significant clinical challenge. Although our patient had common GI complaints, the tangle of multisystem dysfunction caused by his uncommon disease meant that there were several possible etiologies to investigate and address. However, despite logistic constraints on diagnostic testing and treatment, this case demonstrates that a methodical, multimodal approach can still help clinicians achieve symptomatic control for these patients.