Objective: To determine the benefit of periodical clinical screening of carriers of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because any useful discussion requires more concrete data. Design and methods: Our study population consisted of all the patients with MEN-1 (n ¼ 58) who were treated at the University Medical Centre Utrecht, The Netherlands, during the period 1975 -2003, and their affected relatives (n ¼ 29). Records of affected individuals who died were analysed for morbidity, cause of death and age at death. We discuss our results in the light of the literature on MEN-1 regarding the benefit of screening. Results: Over a period of 28 years, we identified 87 individuals affected with MEN-1, from 16 families. A mutation in the MEN-1 gene was detected in 57%, 18% were obligate carriers, and in 24% the diagnosis was only clinically confirmed. Thirty individuals died, 17 from MEN-1-related causes, including malignancies (n ¼ 12: pancreatic islet cell tumours n ¼ 6 and carcinoid tumours n ¼ 6), the Zollinger-Ellison syndrome (n ¼ 4) and Cushing's disease (n ¼ 1). The remaining patients died of causes probably related to MEN-1 (n ¼ 3), unrelated to MEN-1 (n ¼ 7) or of unknown causes. Mean ages at death from MEN-1 were 55.4 years for men and 46.8 years for women, in both cases significantly lower than the mean age at death in the average Dutch population (P , 0.05). Conclusions: We feel that the significantly increased risk of premature death found in patients with MEN-1 justifies the periodical clinical screening of carriers of the MEN-1 gene mutation. Early detection and treatment of abnormalities will probably reduce this risk.

Hair samples can provide a historical timeline that corresponds with clinical course in patients with (cyclic) CS. This new diagnostic tool can contribute significantly to early recognition of patients suffering from cyclic CS.