What is the role of lab tests in the diagnosis of multiple endocrine neoplasia type 1 (MEN1)?

Updated: Sep 14, 2018
  • Author: Thomas N Darling, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

The observation of multiple facial angiofibromas, collagenomas, and lipomas does not establish the diagnosis of multiple endocrine neoplasia type 1 (MEN1). These cutaneous findings indicate the need for further testing for MEN1 (and/or tuberous sclerosis, depending on the overall clinical picture), including both blood studies to examine for evidence of hormone hypersecretion and imaging studies to look for the presence of tumors.

DNA testing is available, but it identifies a mutation in only about 80% of patients with familial MEN1. [1]  Mutation analysis may be used to confirm the clinical diagnosis, provide a genetic diagnosis in difficult cases, and screen asymptomatic family members. [26]

Also see a clinical guideline summary from the National Academy of Clinical Biochemistry, Intraoperative parathyroid hormone. Laboratory medicine practice guidelines: evidence-based practice for point-of-care testing


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