title: Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1).
abstract: The recent identification of MEN1 gene mutations as the molecular cause of familial multiple endocrine neoplasia type 1 syndrome (MEN1) has had a significant impact on clinical patient care. In the following consensus statement we will present recommendations for clinical screening and follow-up in patients and relatives with suspected or established MEN1 syndrome. MEN1 mutational analysis should be performed in individuals with newly diagnosed MEN1-typical endocrine neoplasia (e.g., primary hyperparathyroidism, gastroenteropancreatic tumor, pituitary adenoma) if additional diagnostic criteria are met (e.g., age <40 years; positive family history; multifocal or recurrent neoplasia; two or more organ systems affected). Genetic family screening is advisable in first degree relatives of MEN1 patients during early adolescence to reliably assess future MEN1 disease risk. In symptomatic individuals carrying MEN1 germ line mutations, annual clinical and biochemical (calcium, PTH, gastrin, prolactin) follow-up as well as routine pancreatic and pituitary imaging may be complemented as individually needed. In contrast, relatives without family-specific MEN1 mutation do not require routine follow-up. Diagnostic procedures and treatment in symptomatic MEN1 mutation carriers and patients may differ from that in sporadic endocrine neoplasia, calling for individual management. Genetic counselling and dedicated endocrine surgery should be integral parts of current medical care in MEN1 syndrome.
authors.affiliation: Department of Internal Medicine, University of Ulm, München, Germany. wolfram.karges@medizin.uni-ulm.de
authors.forename: W
authors.initials: W
authors.lastname: Karges
authors.forename: L
authors.initials: L
authors.lastname: Schaaf
authors.forename: H
authors.initials: H
authors.lastname: Dralle
authors.forename: B O
authors.initials: BO
authors.lastname: Boehm
mesh_terms: D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation