Multiple endocrine neoplasia type 1 laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [3]
Overview
The initial goal in diagnosing MEN 1 is to confirm the presence or absence of the three main MEN 1-related endocrine tumors. The order of tests should be determined by the patient's current symptoms. If necessary, genetic testing should be performed. Laboratory findings consistent with the diagnosis of multiple endocrine neoplasia type 1 include increased parathyroid hormone, increased gastrin concentration, and increased cortisol concentration.
Laboratory Findings
The initial goal in diagnosing MEN1 is to confirm the presence or absence of the three main MEN1-related endocrine tumors. The order of tests should be determined by the patient's current symptoms. If necessary, genetic testing should be performed.[1][2][3][4]
- For hyperparathyroidism caused by parathyroid tumors, serum calcium and intact parathyroid hormone (PTH) assay are the chief diagnostic tests and can distinguish primary hyperparathyroidism from secondary hyperparathyroidism.
- In patients with primary hyperparathyroidism, high levels of calcium and PTH are observed, whereas in patients with secondary hyperparathyroidism, calcium levels are either low or within the reference range, and PTH levels are high. However, occasionally, the total serum calcium level will be normal or only mildly elevated.
- In pituitary adenomas, the diagnosis of prolactinoma is based on demonstration of sustained elevation of serum prolactin levels
- Fasting gastrin measurement, with or without secretin stimulation and measurement of gastric acid, is the primary test for diagnosis of gastrinoma.
- Measurement of gastric acid secretion is necessary for patients with elevated gastrin levels.
- Measurement of other hormones, including insulin, glucagon, and chromogranin A, may be useful for identifying hormone-secreting tumors.
- Somatostatin receptor scintigraphy is useful for visualizing enteropancreatic neuroendocrine tumors and duodenal gastrinomas.
- Laboratory tests may be performed periodically to screen for multiple endocrine neoplasia type 1 tumors.
Blood Tests
Urine Tests
Urinary calcium to detect the results of excess hormone production.
References
- ↑ [1] MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 NCI
- ↑ Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML (2012). "Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)". J. Clin. Endocrinol. Metab. 97 (9): 2990–3011. doi:10.1210/jc.2012-1230. PMID 22723327.
- ↑ Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM (2009). "Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop". J. Clin. Endocrinol. Metab. 94 (2): 340–50. doi:10.1210/jc.2008-1758. PMID 19193909.
- ↑ Skandarajah A, Barlier A, Morlet-Barlat N, Sebag F, Enjalbert A, Conte-Devolx B, Henry JF, Makar AB, McMartin KE, Palese M, Tephly TR, Roskoski R, Lim CT, Roskoski LM, Warth J, Desforges JF, Chow YW, Pietranico R, Mukerji A, Kienia AI, Moroi K, Sato T, Schwabbauer ML, Skandarajah A, Barlier A, Morlet-Barlat N, Sebag F, Enjalbert A, Conte-Devolx B, Henry JF, Schmoldt A, Benthe HF, Haberland G, Mills GC, Alperin JB, Trimmer KB, Moore G, Burford G, Lederis K, Marniemi J, Parkki MG, Nilsson SF, Peterson PA, Hendrickson WA, Ward KB (2010). "Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?". World J Surg. 34 (6): 1294–8. doi:10.1007/s00268-009-0388-5. PMID 20058152.