ABSTRACT
Multiple endocrine neoplasia type 1 (MEN 1) syndrome is a rare autosomal dominant endocrine tumour syndrome, which can be diagnosed clinically based on family history and the existence of MEN 1-associated tumours or molecularly based on genetic testing. We described the case of a Hispanic 55-year-old male presenting with dysphagia, chest pain and diarrhoea for three months with a family history of hypercalcaemia and nephrolithiasis in first-degree relatives. Primary hyperparathyroidism was suggested by hypercalcaemia, elevated parathyroid hormone level, hypercalciuria, nephrolithiasis on abdominal computed tomography scan and enlarged parathyroid gland on computed tomography pulmonary angiogram. Also, patient had hypergastrinemia and a hypodense lesion in the pancreas on computed tomography scan of abdomen. These findings suggested MEN 1 syndrome with high suspicion of associated Zollinger Ellison syndrome. Our case highlights the importance of family history and high clinical suspicion in patients presenting with primary hyperparathyroidism and hypergastrinemia.
