Endocrine Abstracts

Multiple parathyroid tumors causing hyperparathyroidism are the most common manifestation of multiple endocrine neoplasia type 1 (MEN1), displaying almost 100 percent penetrance by age 40–50 years. In most cases, it is the initial manifestation of MEN1.

We report a case of young lady presented to hospital with diarrhoea and vomiting and diagnosed to have multiple peptic ulcers with severe oesophagitis. Her other biochemistry was consistent with primary hyperparathyroidism. The possibility of MEN1 was considered. On taking detailed family history, she had a strong family history of primary hyperparathyroidism with complications. She underwent genetic testing which confirmed MEN1 mutation. Her family members were screened for familial MEN-1 and two of her siblings revealed mutation in MEN1 gene. Patient later had three parathyroid glands removed along with unremarkable thymic tissue and small lymph nodes. Histology confirmed parathyroid hyperplasia with no evidence of malignancy. She was later referred to tertiary care hospital where she was further investigated for possibility of neuroendocrine tumor. CT pancreas revealed multiple foci of hypervascularity in tail of pancreas consistent with neuroendocrine tumor. She had surgery done for neuroendocrine tumor.

Histology confirmed well-differentiated neuroendocrine tumor.

We concluded that it is important to take a detailed family history in patients with hyperparathyroidism as it may indicate the possibility of a familial disorder like MEN1. It is also important to consider the possibility of MEN1 in a patient presenting with primary hyperparathyroidism if presenting at a younger age, multiple gland disease and recurrence after successful subtotal parathyroidectomy.