Pheochromocytoma associated with primary hyperparathyroidism and type 1 neurofibromatosis

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Difficulties of diagnosing a clinically silent pheochromocytoma. Russian Journal of Preventive Medicine. 2025;(3):107-111

Neurofibromatosis type 1 (NF-1) is a predominantly inherited genetic disease with prevalence of 1 per 2500—3000 newborns and based on clear clinical criteria. In addition to common neurofibromas and gliomas of the visual pathways, these patients have a higher risk of various benign and malignant tumors throughout their lives including tumors of the central nervous system, membranes of peripheral nerves, gastrointestinal stromal tumors and leukemia. Endocrine diseases and neoplasms also occur in patients with NF-1 and can include extrarenal paraganglioma, primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumors, thyroid tumors and other adrenal neoplasms. We demonstrate multiple neuroendocrine neoplasia (MEN 2A) of neurofibromatosis type 1 combined with pheochromocytoma and primary hyperparathyroidism in a woman with a long history of palpitations, paroxysmal hypertension and osteoporosis. Biochemical analysis revealed severe hypercalcemia with elevated parathyroid hormone indicating primary hyperparathyroidism, as well as high fractionated normetanephrine and metanephrine in the urine as a sign of catecholamine-releasing pheochromocytoma/paraganglioma. Further scintigraphy revealed signs of solitary parathyroid adenoma causing primary hyperparathyroidism and right-sided pheochromocytoma. Clinical diagnosis of MEN-2 syndrome is based on combination of at least two major MEN-2-associated endocrine tumors. Resection of parathyroid adenoma and pheochromocytoma normalized biochemical parameters and blood pressure. Combination of pheochromocytoma with primary hyperparathyroidism and type 1 neurofibromatosis is discussed.

Keywords:

neurofibromatosis type 1

pheochromocytoma

hyperparathyroidism

parathyroid adenoma

primary paraganglioma

Authors:

Ryabchenko E.V.

Regional Clinical Hospital No. 2

ORCID: 0000-0003-4045-5053

Dremlyuga N.V.

Regional Clinical Hospital No. 2

ORCID: 0000-0002-4514-4302

Mezhinskaya E.M.

Regional Clinical Hospital No. 2

ORCID: 0009-0005-4887-2531

Polyansky E.A.

Regional Clinical Hospital No. 2

ORCID: 0000-0001-7772-9965

Received:

22.11.2022

Accepted:

08.12.2022

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