Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?

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=58) who were treated at the University Medical Centre Utrecht, The Netherlands, during the period 1975-2003, and their affected relatives (n=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=12: pancreatic islet cell tumours n=6 and carcinoid tumours n=6), the Zollinger-Ellison syndrome (n=4) and Cushing's disease (n=1). The remaining patients died of causes probably related to MEN-1 (n=3), unrelated to MEN-1 (n=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.