Screening
Relatives of index cases
Genetic testing helps determine which relatives are carriers, indicating who must be followed for tumor development. If MEN1 gene mutations are absent and haplotype analysis is not informative in the index case, carrier status cannot be confirmed. However, first-degree relatives (50% genetically identical) without suspicious features (such as skin lesions) require measurements of parathyroid hormone, calcium, and prolactin levels every 3 years.[3][7]
Genetic carriers
MEN1 and MEN2 are autosomal-dominant conditions and genetic carriers require follow up for tumor development.
MEN1 carriers may be asymptomatic, meaning annual assessment for hyperparathyroidism, neuroendocrine hormone excess, and pituitary hormone excess is important, along with brain and abdominal imaging every 3 years.
MEN2 carriers require prophylactic thyroidectomies, and those at risk require annual screening for pheochromocytoma with plasma and urine collections.
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