Predictors of Mortality in Patients With Multiple Endocrine Neoplasia Type 1

Objective

Multiple Endocrine Neoplasia Type 1 (MEN 1) is an autosomal dominant disease predisposing to hyperplasia and neoplasia in diverse endocrine tissues. Patients typically present with endocrine abnormalities before the age of 30 years and have reduced life expectancy. Our objective was to determine predictors of premature mortality in MEN 1.

Design

Tertiary hospital based retrospective cohort study.

Patients

One hundred and thirty patients with a common MEN1 genotype.

Measurements

Kaplan-Meier survival analysis of median life expectancy (MLE).

Results

The overall cohort MLE was 70.8 years. Sex and year of birth were not predictive of survival. A diagnosis before age 45 years of adrenal nodularity (MLE 51.8 years), hypergastrinaemia (MLE 66.2 years), or liver lesions (MLE 38.6) were associated with a significant reduction in survival (26.2 years, p < 0.01, 6.4 years, p = 0.03, and 30.3 years, p < 0.01 respectively) compared to being diagnosed with these conditions later in life. In contrast, diagnosis before age 45 years of pancreatic nodularity (MLE 68.9 years) and primary hyperparathyroidism (MLE 68.9 years) were not predictive of survival.

Conclusion

Patients with MEN 1 diagnosed before age 45 with adrenal nodularity, hypergastrinaemia or liver lesions had significantly reduced survival. The explanation for non-secretory and benign adrenal macronodular hyperplasia being associated with diminished life expectancy is unclear.