Patient’s Age, Family History Offer Clues to Rare Diagnosis
A 39-year-old woman experiencing recurrent abdominal pain was referred to an endocrinologist by her primary care physician after she reported a family history of neuroendocrine tumors. The patient’s father had undergone surgery to remove neuroendocrine tumors, so the patient was aware of a potential genetic condition.
Laboratory tests revealed elevated calcium and parathyroid hormone levels. She was immediately referred to Julie Ann Sosa, MD, chief of endocrine surgery and leader of the Endocrine Neoplasia Diseases Group at the Duke Cancer Institute and the Duke Clinical Research Institute.
Questions: What actions did Sosa and her team take to reach a diagnosis? What treatment strategies were recommended?